Rhabdomyosarcoma differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Rhabdomyosarcoma}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Rhabdomyosarcoma]]
{{CMG}};{{AE}} {{PSK}}
{{CMG}};{{AE}} {{S.M}}


==Overview==
==Overview==
Rhabdomyosarcoma must be differentiated from [[Ewing sarcoma]], [[Lymphadenopathy]], [[Neuroblastoma]], [[Liposarcoma]] [[Osteosarcoma]], Lymphoprofilerative disorders. Rhabdomyosarcoma of the orbit must be differentiated from other causes of orbital masses such as orbital pseudotumor, orbital tumors, orbital abscess, and vascular lesions.
Rhabdomyosarcoma must be differentiated from [[wilms tumor]], [[ewing sarcoma]], [[neuroblastoma]], [[pheochromocytoma]], [[liposarcoma]], [[osteosarcoma]], [[acute myelocytic leukemia]], [[acute lymphoblastic leukemia]], and [[Non-Hodgkin lymphoma|non-hodgkin]] [[lymphoma]]. They mostly differentiated by their [[signs]], [[symptoms]], and [[imaging]] findings. The [[Gold standard (test)|gold standard]] of [[diagnosis]] is usually [[tissue]] [[biopsy]].


==Differential Diagnosis==
==Differential Diagnosis==
*Rhabdomyosarcoma must be differentiated from following diseases:
*[[Rhabdomyosarcoma]] must be differentiated from following [[diseases]]:


{| class="wikitable"
{| class="wikitable"
Line 14: Line 14:
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diagnosis
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diagnosis
|-
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Palpable mass
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Palpable mass
Line 22: Line 22:
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Others
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Others
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histology
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histology
|-
|-
|Rhabdomyosarcoma<ref name="pmid24966711">{{cite journal| author=Egas-Bejar D, Huh WW| title=Rhabdomyosarcoma in adolescent and young adult patients: current perspectives. | journal=Adolesc Health Med Ther | year= 2014 | volume= 5 | issue=  | pages= 115-25 | pmid=24966711 | doi=10.2147/AHMT.S44582 | pmc=4069040 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24966711  }}</ref><ref name="pmid27955730">{{cite journal| author=Dasgupta R, Fuchs J, Rodeberg D| title=Rhabdomyosarcoma. | journal=Semin Pediatr Surg | year= 2016 | volume= 25 | issue= 5 | pages= 276-283 | pmid=27955730 | doi=10.1053/j.sempedsurg.2016.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27955730  }}</ref><ref name="pmid18442956">{{cite journal| author=Park K, van Rijn R, McHugh K| title=The role of radiology in paediatric soft tissue sarcomas. | journal=Cancer Imaging | year= 2008 | volume= 8 | issue=  | pages= 102-15 | pmid=18442956 | doi=10.1102/1470-7330.2008.0014 | pmc=2365455 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18442956  }}</ref><ref name="pmid26349418">{{cite journal| author=Shern JF, Yohe ME, Khan J| title=Pediatric Rhabdomyosarcoma. | journal=Crit Rev Oncog | year= 2015 | volume= 20 | issue= 3-4 | pages= 227-43 | pmid=26349418 | doi= | pmc=5486973 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26349418  }}</ref>
! style="background:#DCDCDC;" align="center" |[[Rhabdomyosarcoma]]<ref name="pmid24966711">{{cite journal| author=Egas-Bejar D, Huh WW| title=Rhabdomyosarcoma in adolescent and young adult patients: current perspectives. | journal=Adolesc Health Med Ther | year= 2014 | volume= 5 | issue=  | pages= 115-25 | pmid=24966711 | doi=10.2147/AHMT.S44582 | pmc=4069040 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24966711  }}</ref><ref name="pmid27955730">{{cite journal| author=Dasgupta R, Fuchs J, Rodeberg D| title=Rhabdomyosarcoma. | journal=Semin Pediatr Surg | year= 2016 | volume= 25 | issue= 5 | pages= 276-283 | pmid=27955730 | doi=10.1053/j.sempedsurg.2016.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27955730  }}</ref><ref name="pmid18442956">{{cite journal| author=Park K, van Rijn R, McHugh K| title=The role of radiology in paediatric soft tissue sarcomas. | journal=Cancer Imaging | year= 2008 | volume= 8 | issue=  | pages= 102-15 | pmid=18442956 | doi=10.1102/1470-7330.2008.0014 | pmc=2365455 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18442956  }}</ref><ref name="pmid26349418">{{cite journal| author=Shern JF, Yohe ME, Khan J| title=Pediatric Rhabdomyosarcoma. | journal=Crit Rev Oncog | year= 2015 | volume= 20 | issue= 3-4 | pages= 227-43 | pmid=26349418 | doi= | pmc=5486973 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26349418  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
* Most common soft tissue cancer among children and adolescents
* Most common [[soft tissue]] [[cancer]] among children and adolescents
* The third most common extracranial solid tumors  
* The third most common extracranial [[solid]] tumors  
* Two-third of all cases happen under 6 years old
* Two-third of all cases happen under 6 years old
| +
| style="background:#F5F5F5;" align="left" | +
| +
| style="background:#F5F5F5;" align="left" | +
|
| style="background:#F5F5F5;" align="left" |
* Skin changes
* [[Skin]] changes
* Respiratory difficulties
* [[Respiratory]] difficulties
* Vomitting
* Vomitting
* Hematuria
* [[Hematuria]]
| +/-
| style="background:#F5F5F5;" align="left" | +/-
|
| style="background:#F5F5F5;" align="left" |
* Fever
* [[Fever]]
* Erythmatous skin
* Erythmatous [[skin]]
 
* [[Proptosis]]
* Proptosis
* Ophtalmoplasia
* Ophtalmoplasia
* Dysconjugate gaze
* Dysconjugate gaze
|
| style="background:#F5F5F5;" align="left" |
* [[Loss of heterozygosity]] of 11p15.
* [[Loss of heterozygosity]] of 11p15.
[[Mutations]] in:
[[Mutations]] in:
* [[TP53]]
* [[TP53]]
* [[NRAS]]
* [[NRAS]]
* [[KRAS]]
* [[KRAS]]
Line 56: Line 54:
* CTNNB1
* CTNNB1
* FGFR4
* FGFR4
* [[Translocations]] in [[PAX3]] or [[PAX7]] genes with [[FOXO1]]
* [[Translocations]] in [[PAX3]] or [[PAX7]] [[genes]] with [[FOXO1]]
| colspan="2" |CT scan:
| style="background:#F5F5F5;" align="left" |[[CT scan]]:
* Soft tissue density
* [[Soft tissue]] [[density]]
* Enhancement with contrast
* Enhancement with [[contrast]]
* Bone destruction
* [[Bone]] destruction
Ultrasound:
[[Ultrasound]]:
* Well-defined and irregular mass
* Well-defined and irregular mass
* Low to medium echogenicity
* Low to medium [[echogenicity]]
MRI:
[[MRI]]:
* T1:
* [[T1]]:
** Low to intermediate intensity
** Low to intermediate intensity
** Hemorrhage areas are poresent in alveolar rhabdomyosarcoma
** [[Hemorrhage]] areas are present in [[alveolar]] [[rhabdomyosarcoma]]
* T2:
* [[MRI|T2]]:
** Hyperintense
** Hyperintense
** Prominent flow voids are present in extremity lesions of rhabdomyosarcoma
** Prominent flow voids are present in extremity [[lesions]] of [[rhabdomyosarcoma]]
* T1 C+ (Gd):
* T1 C+(Gd):
** Considerable enhancement
** Enhancement
{| class="wikitable"
{| class="wikitable"
|
|
|}
|}
|
| style="background:#F5F5F5;" align="left" |
* An appearance of round blue cell tumors  
* An [[appearance]] of round [[blue]] [[cell]] [[tumors]]
* Myogenesis pathway has various types of differentiation
* [[Myogenesis]] pathway has various types of [[differentiation]]
* Positive immunohistochemical results for:  
* [[Positive]] [[Immunohistochemistry|immunohistochemical]] results for:  
** myoglobin  
** [[myoglobin]]
** actin
** [[actin]]
** desmin
** [[desmin]]
** Myogenin
** [[Myogenin]]
|-
|-
|[[Wilms' tumor|Wilms tumor]]<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><ref name="pmid10985142">{{cite journal| author=Coppes MJ, Pritchard-Jones K| title=Principles of Wilms' tumor biology. | journal=Urol Clin North Am | year= 2000 | volume= 27 | issue= 3 | pages= 423-33, viii | pmid=10985142 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10985142  }}</ref><ref name="pmid22789581">{{cite journal| author=Davidoff AM| title=Wilms tumor. | journal=Adv Pediatr | year= 2012 | volume= 59 | issue= 1 | pages= 247-67 | pmid=22789581 | doi=10.1016/j.yapd.2012.04.001 | pmc=3589819 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22789581  }}</ref>
! style="background:#DCDCDC;" align="center" |[[Wilms' tumor|Wilms tumor]]<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><ref name="pmid10985142">{{cite journal| author=Coppes MJ, Pritchard-Jones K| title=Principles of Wilms' tumor biology. | journal=Urol Clin North Am | year= 2000 | volume= 27 | issue= 3 | pages= 423-33, viii | pmid=10985142 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10985142  }}</ref><ref name="pmid22789581">{{cite journal| author=Davidoff AM| title=Wilms tumor. | journal=Adv Pediatr | year= 2012 | volume= 59 | issue= 1 | pages= 247-67 | pmid=22789581 | doi=10.1016/j.yapd.2012.04.001 | pmc=3589819 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22789581  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
* Also called nephroblastoma
* Also called [[nephroblastoma]]
* The most common childhood abdominal malignancy
* The most common childhood [[abdominal]] [[malignancy]]
* Average age of 3.5 years old
* [[Average]] [[age]] of 3.5 years old
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
| +
| +
|
| style="background:#F5F5F5;" align="left" |
* Hematuria
* [[Hematuria]]
* Respiratory symptoms ( due to lung metastases)
* [[Respiratory]] [[symptoms]] ( due to [[lung]] [[metastases]])
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
| style="background:#F5F5F5;" align="left" |
* Fever
* [[Fever]]
* Hypertension/ hypotension
* [[Hypertension]]/ [[hypotension]]
|Present mutations of:
| style="background:#F5F5F5;" align="left" |Present [[mutations]] of:
* WT1
* [[WT1]]
* P53
* [[P53]]
* FWT1
* FWT1
* FWT2 11p15.5 loci
* FWT2 11p15.5 [[loci]]
| colspan="2" |Ultrasound:
| style="background:#F5F5F5;" align="left" |[[Ultrasound]]:
*The best initial diagnostic study.
*The best initial [[Diagnostic study of choice|diagnostic study]].
*Distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]].
*Distinguish [[tumor]] [[mass]] from other causes of renal [[swelling]] like [[hydronephrosis]].
*[[Doppler ultrasonography]] can help to detect invasion of [[renal vein]] and [[Inferior vena cava|IVC]] by the tumor.
*[[Doppler ultrasonography]] can help to detect [[invasion]] of [[renal vein]] and [[Inferior vena cava|IVC]] by the [[tumor]].
CT scan:
[[CT scan]]:
* Heterogeneous soft-tissue density masses
* [[Heterogeneous]] [[soft-tissue]] [[density]] [[mass]]
* Areas of [[calcification]] and fat-density regions
* Areas of [[calcification]] and [[fat]] [[density]] regions
 
*[[Lymph node]] [[metastasis]]
*[[Lymph node]] metastasis
*Surrounding [[organs]] [[invasion]]
*Surrounding organs invasion  
*[[Thrombus]] in [[renal vein]] or [[inferior vena cava]]
*[[Thrombus]] in [[renal vein]] or [[inferior vena cava]]
|
| style="background:#F5F5F5;" align="left" |
*Arises from mesodermal precursors of the renal parenchyma  
*Arises from mesodermal [[precursors]] of the [[renal]] [[parenchyma]]
*Well-circumscribed/ macrolobulated lesion
*Well-circumscribed/ macrolobulated [[lesion]]
*Hemorrhage/ central necrosis may be present
*[[Hemorrhage]]/ [[central]] [[necrosis]] may be present
*It is comprised of 3 types of cells:
*It is comprised of 3 types of [[Cells (biology)|cells]]:
**[[Stromal]]
**[[Stromal]]
**[[Epithelium|Epithelial]]
**[[Epithelium|Epithelial]]
**[[Blastema|Blastemal]]
**[[Blastema|Blastemal]]
 
*The [[stroma]] may include:
*The stroma may include:
**[[Striated muscle|Striated]] [[muscle]] [[cartilage]]
**Striated [[muscle]] [[cartilage]]
**[[bone]]
**[[bone]]
**[[Adipose tissue|Fat tissue]]
**[[Adipose tissue|Fat tissue]]
**[[Fibrous connective tissue|Fibrous tissue.]]
**[[Fibrous connective tissue|Fibrous tissue.]]
|-
|-
|Ewing sarcoma<ref name="pmid12560386">{{cite journal| author=Burchill SA| title=Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities. | journal=J Clin Pathol | year= 2003 | volume= 56 | issue= 2 | pages= 96-102 | pmid=12560386 | doi= | pmc=1769883 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12560386  }}</ref><ref name="pmid8443760">{{cite journal| author=Maygarden SJ, Askin FB, Siegal GP, Gilula LA, Schoppe J, Foulkes M et al.| title=Ewing sarcoma of bone in infants and toddlers. A clinicopathologic report from the Intergroup Ewing's Study. | journal=Cancer | year= 1993 | volume= 71 | issue= 6 | pages= 2109-18 | pmid=8443760 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8443760  }}</ref><ref name="pmid8988217">{{cite journal| author=Panicek DM, Gatsonis C, Rosenthal DI, Seeger LL, Huvos AG, Moore SG et al.| title=CT and MR imaging in the local staging of primary malignant musculoskeletal neoplasms: Report of the Radiology Diagnostic Oncology Group. | journal=Radiology | year= 1997 | volume= 202 | issue= 1 | pages= 237-46 | pmid=8988217 | doi=10.1148/radiology.202.1.8988217 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8988217  }}</ref><ref name="pmid29977059">{{cite journal| author=Grünewald TGP, Cidre-Aranaz F, Surdez D, Tomazou EM, de Álava E, Kovar H et al.| title=Ewing sarcoma. | journal=Nat Rev Dis Primers | year= 2018 | volume= 4 | issue= 1 | pages= 5 | pmid=29977059 | doi=10.1038/s41572-018-0003-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29977059  }}</ref>
! style="background:#DCDCDC;" align="center" |[[Ewing sarcoma]]<ref name="pmid12560386">{{cite journal| author=Burchill SA| title=Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities. | journal=J Clin Pathol | year= 2003 | volume= 56 | issue= 2 | pages= 96-102 | pmid=12560386 | doi= | pmc=1769883 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12560386  }}</ref><ref name="pmid8443760">{{cite journal| author=Maygarden SJ, Askin FB, Siegal GP, Gilula LA, Schoppe J, Foulkes M et al.| title=Ewing sarcoma of bone in infants and toddlers. A clinicopathologic report from the Intergroup Ewing's Study. | journal=Cancer | year= 1993 | volume= 71 | issue= 6 | pages= 2109-18 | pmid=8443760 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8443760  }}</ref><ref name="pmid8988217">{{cite journal| author=Panicek DM, Gatsonis C, Rosenthal DI, Seeger LL, Huvos AG, Moore SG et al.| title=CT and MR imaging in the local staging of primary malignant musculoskeletal neoplasms: Report of the Radiology Diagnostic Oncology Group. | journal=Radiology | year= 1997 | volume= 202 | issue= 1 | pages= 237-46 | pmid=8988217 | doi=10.1148/radiology.202.1.8988217 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8988217  }}</ref><ref name="pmid29977059">{{cite journal| author=Grünewald TGP, Cidre-Aranaz F, Surdez D, Tomazou EM, de Álava E, Kovar H et al.| title=Ewing sarcoma. | journal=Nat Rev Dis Primers | year= 2018 | volume= 4 | issue= 1 | pages= 5 | pmid=29977059 | doi=10.1038/s41572-018-0003-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29977059  }}</ref>
| style="background:#F5F5F5;" align="left" |
* Include [[ewing sarcoma]], askin [[tumor]], and peripheral  [[Neuroectodermal tumor primitive|neuroectodermal tumors primitive]]
* The second most common [[childhood]] [[malignant]] primary [[bone]] [[tumors]]
* Usually arises in the long [[bones]] of the [[extremities]]
* Common [[age]] between 10-20 years old
|<nowiki>+</nowiki>
| style="background:#F5F5F5;" align="left" | +
|
|
* Include ewing sarcoma, askin tumor, and peripheral primitive neuroectodermal tumors
* [[Weight loss]]
* The second most common childhood malignant primary bone tumors
* [[Fatigue]]
* Usually arises in the long bones of the extremities
* Common age between 10-20 years old
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
| +
| style="background:#F5F5F5;" align="left" |
|Weight loss/ fatigue
* [[Fever]]
|<nowiki>+</nowiki>
* [[Pathological|Pathologic]] [[fractures]]
|
* [[Petechiae]]/ [[purpura]]
* Fever
| style="background:#F5F5F5;" align="left" |
* Pathologic fractures
* [[Reciprocal translocation]] between [[chromosomes]] 11 and 22
* Petachia/ purpura
| style="background:#F5F5F5;" align="left" |[[Radiographic]] of region:
|
* Poorly marginated destructive [[lesion]]
* Reciprocal translocation between chromosomes 11 and 22
* Permeative or "moth-eaten" [[appearance]]
| colspan="2" |Plain radiographic of region:
[[CT scan]]:
* Poorly marginated destructive lesion  
* [[Cortical area|Cortical]] destruction  
* Permeative or "moth-eaten" appearance
* Demonstrate [[soft tissue]] [[disease]]
CT scan:
[[MRI]]:
* Cortical destruction  
* Considered as a preferred [[Diagnostic study of choice|diagnostic study]]
* Demonstrate soft tissue disease
* Better shows [[tumor]] size/ [[intraosseous]]/extraosseous extent
MRI:
| style="background:#F5F5F5;" align="left" |
* Considered as a preferred diagnostic study
* Small/ round/ [[blue]] cell [[tumors]]
* Better shows tumor size/ intraosseous/extraosseous extent
* May be [[undifferentiated]] or differentiated
|
* Regular sized [[Primitive (integral)|primitive]] appearing [[Cells (biology)|cells]]
* Small/ round/ blue cell tumors
* May be undifferentiated or differentiated,
* Regular sized primitive appearing cells
|-
|-
|Pediatric neuroblastoma <ref name="pmid12110723">{{cite journal| author=Lonergan GJ, Schwab CM, Suarez ES, Carlson CL| title=Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation. | journal=Radiographics | year= 2002 | volume= 22 | issue= 4 | pages= 911-34 | pmid=12110723 | doi=10.1148/radiographics.22.4.g02jl15911 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12110723  }}</ref><ref name="pmid12580370">{{cite journal| author=Golden CB, Feusner JH| title=Malignant abdominal masses in children: quick guide to evaluation and diagnosis. | journal=Pediatr Clin North Am | year= 2002 | volume= 49 | issue= 6 | pages= 1369-92, viii | pmid=12580370 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12580370  }}</ref>
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[neuroblastoma]] <ref name="pmid12110723">{{cite journal| author=Lonergan GJ, Schwab CM, Suarez ES, Carlson CL| title=Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation. | journal=Radiographics | year= 2002 | volume= 22 | issue= 4 | pages= 911-34 | pmid=12110723 | doi=10.1148/radiographics.22.4.g02jl15911 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12110723  }}</ref><ref name="pmid12580370">{{cite journal| author=Golden CB, Feusner JH| title=Malignant abdominal masses in children: quick guide to evaluation and diagnosis. | journal=Pediatr Clin North Am | year= 2002 | volume= 49 | issue= 6 | pages= 1369-92, viii | pmid=12580370 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12580370 }}</ref><ref name="pmid2403727">{{cite journal| author=Angstman KB, Miser JS, Franz WB| title=Neuroblastoma. | journal=Am Fam Physician | year= 1990 | volume= 41 | issue= 1 | pages= 238-44 | pmid=2403727 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2403727  }}</ref><ref name="pmid6493702">{{cite journal| author=Musarella MA, Chan HS, DeBoer G, Gallie BL| title=Ocular involvement in neuroblastoma: prognostic implications. | journal=Ophthalmology | year= 1984 | volume= 91 | issue= 8 | pages= 936-40 | pmid=6493702 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6493702 }}</ref>
|
| style="background:#F5F5F5;" align="left" |
* Most common extracranial solid tumor of infancy
* Most common extracranial [[solid]] [[tumor]] of [[infancy]]
* Arising from  pluripotent sympathetic cells
* Arising from  [[pluripotent]] [[sympathetic]] [[Cells (biology)|cells]]
Age distribution:
[[Age]] distribution:
* < 1 years old ( 40%)  
* < 1 years old ( 40%)  
* 1-2 years old (35%)
* 1-2 years old (35%)
* > 2 years old (25%)
* > 2 years old (25%)
|
| style="background:#F5F5F5;" align="left" |
+ (Abdominal)
+ ([[Abdominal]])
| +
| style="background:#F5F5F5;" align="left" | +
|
| style="background:#F5F5F5;" align="left" |
* Constipation
* [[Constipation]]
* Weakness
* [[Weakness]]
* Diarrhea
* [[Diarrhea]]
|
| style="background:#F5F5F5;" align="left" |
+
+([[Abdominal]])
 
| style="background:#F5F5F5;" align="left" |
(Abdominal)
* [[Proptosis]]
|
* Periorbital [[ecchymosis]]
* Proptosis
* [[Horner syndrome]]
* Periorbital ecchymosis
* [[Opsoclonus myoclonus syndrome]]
* Horner syndrome
| style="background:#F5F5F5;" align="left" |
* Opsoclonus myoclonus syndrome
* [[Chromosome]] 1p [[Deletion (genetics)|deletion]]
|
* [[N-myc-interactor|N-myc]] [[amplification]]
* Chromosome1p deletion  
| style="background:#F5F5F5;" align="left" |[[CT scan]]:
* N-myc amplification
* [[Heterogeneous]] [[mass]]
| colspan="2" |CT scan:
* [[Calcification]]
* Heterogeneous mass
* [[Necrotic]] areas
* Calcifications
[[MRI]]:
* Necrotic areas
*[[T1]]:
MRI:
** [[heterogeneous]] [[mass]]
 
*[[Magnetic resonance imaging|T2]]:
T1:
** [[Heterogeneous]]/ hyperintense
* heterogeneous mass
** [[Cystic]]/ [[necrotic]] areas  
T2:
*C+ (Gd):
* heterogeneous/ hyperintense
** [[Heterogeneous]] [[mass]]
* cystic/necrotic areas  
| style="background:#F5F5F5;" align="left" |
C+ (Gd):
* Well defined/ infiltrative [[mass]]
* Heterogeneous mass
* Homer [[Wright stain|wright]] rosettes  
|
* [[Secretion]] of [[vanillylmandelic acid]] (VMA) and [[homovanillic acid]] (HVA)
* Well defined/ infiltrative mass
* Homer wright rosettes  
* Secretion of vanillylmandelic acid (VMA) and homovanillic acid (HVA)
|-
|-
|[[Renal cell carcinoma]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[pheochromocytoma]]<ref name="pmid23345359">{{cite journal| author=Leung K, Stamm M, Raja A, Low G| title=Pheochromocytoma: the range of appearances on ultrasound, CT, MRI, and functional imaging. | journal=AJR Am J Roentgenol | year= 2013 | volume= 200 | issue= 2 | pages= 370-8 | pmid=23345359 | doi=10.2214/AJR.12.9126 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23345359  }}</ref><ref name="pmid1988766">{{cite journal| author=Stein PP, Black HR| title=A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution's experience. | journal=Medicine (Baltimore) | year= 1991 | volume= 70 | issue= 1 | pages= 46-66 | pmid=1988766 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1988766  }}</ref><ref name="pmid17876523">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }}</ref><ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }} </ref>
|
| style="background:#F5F5F5;" align="left" |
|<nowiki>+</nowiki>
* [[Rare]] [[catecholamine]]-secreting [[tumor]]
|<nowiki>+</nowiki>
* Occur in both children and adults
|<nowiki>+/-</nowiki>
* [[Average]] [[age]] of 11 years old
|<nowiki>+</nowiki>
* Associated with  [[neurofibromatosis]], [[von Hippel-Lindau disease]], [[tuberous sclerosis]], [[Sturge-Weber syndrome|sturge-weber syndrome]], and [[multiple endocrine neoplasia]] ([[Multiple endocrine neoplasia|MEN]]) [[syndromes]]
|<nowiki>-</nowiki>
| style="background:#F5F5F5;" align="left" |<nowiki>-</nowiki>
|
| style="background:#F5F5F5;" align="left" |<nowiki>+/-</nowiki>
|
| style="background:#F5F5F5;" align="left" |
* [[Ultrasound]] (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell [[carcinomas]] are detectable on [[ultrasound]].
* [[Headache]]
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.
* [[Sweating]]
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.
* [[Weakness]]
* [[Convulsion]]
| style="background:#F5F5F5;" align="left" |<nowiki>-</nowiki>
| style="background:#F5F5F5;" align="left" |
* [[Hypertension]]
* [[Tachycardia]]
* [[Pallor]] [[face]]
|[[Genetic]] [[mutation]] in:
* [[NF1]]
* [[RET gene|RET]]
* [[VHL]]
* [[SDHD]]
* [[SDHC]]
* [[EGLN1]]
* [[EGLN2]]
* [[KIF1B]]
* [[SDHAF2]]
* [[TMEM127]]
* [[SDHA]]
* [[IDH1]]
* [[SDHB]]
* [[MAX (gene)|MAX]]
* HIF2A
* [[FH]]
| style="background:#F5F5F5;" align="left" |[[Ultrasound]]:
* Different [[appearance]] from [[solid]] to mixed [[cystic]] or [[solid]] to [[cystic]]
[[CT scan]]:
* Large and heterogenous
* [[Calcification]]
* [[Necrosis]]
* [[Cystic]] changes
[[MRI]] (in extra [[adrenal]] [[tumors]]):
*[[T1]]:
** Heterogenous enhancement
** Hypointense
*[[MRI|T2]]:
** Hyperintense
*T1 C+ (Gd):
** Heterogenous enhancement
| style="background:#F5F5F5;" align="left" |
* Zellballen pattern on [[microscopy]]
* Well-defined clusters
* [[Eosinophilic]] [[cytoplasm]]
Positive stains for:
* [[Chromogranin]] for zellballlen [[Cells (biology)|cells]]
* Neurospecific [[enolase]] markers for [[neuronal]] [[Cells (biology)|cells]]
* [[S-100 protein|S-100]] [[protein]] for [[Sustentacular cell|sustentacular]] [[Cells (biology)|cells]]
|-
|-
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[osteosarcoma]]<ref name="pmid8000997">{{cite journal| author=Dorfman HD, Czerniak B| title=Bone cancers. | journal=Cancer | year= 1995 | volume= 75 | issue= 1 Suppl | pages= 203-10 | pmid=8000997 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8000997  }}</ref><ref name="pmid21071381">{{cite journal| author=Yarmish G, Klein MJ, Landa J, Lefkowitz RA, Hwang S| title=Imaging characteristics of primary osteosarcoma: nonconventional subtypes. | journal=Radiographics | year= 2010 | volume= 30 | issue= 6 | pages= 1653-72 | pmid=21071381 | doi=10.1148/rg.306105524 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21071381  }}</ref><ref name="pmid1884549">{{cite journal| author=Araki N, Uchida A, Kimura T, Yoshikawa H, Aoki Y, Ueda T et al.| title=Involvement of the retinoblastoma gene in primary osteosarcomas and other bone and soft-tissue tumors. | journal=Clin Orthop Relat Res | year= 1991 | volume=  | issue= 270 | pages= 271-7 | pmid=1884549 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1884549  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
| +
* The second most common primary [[bone]] [[tumor]]
|<nowiki>+</nowiki>
* The third most common [[tumor]] among adolescents
|<nowiki>-</nowiki>
* Can be primary or secondary
|<nowiki>+</nowiki>
* Primary [[osteosarcoma]] occurs in [[age]] of 10-20 years old
|<nowiki>-</nowiki>
* Secondary [[osteosarcoma]] occurs in older [[patients]] and is secondary to [[paget disease]] and [[bone]] infarcts
|
* Accompanied with positive history of [[trauma]]
|
| style="background:#F5F5F5;" align="left" | +
* [[Ultrasound]] shows a complex cystic mass.
| style="background:#F5F5F5;" align="left" | +
|
| style="background:#F5F5F5;" align="left" |
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].
* [[Soft tissue]] [[swelling]]
|
* [[Fracture]]
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.
* [[Night Sweats|Night]] [[sweating]]
| style="background:#F5F5F5;" align="left" | +
| style="background:#F5F5F5;" align="left" |
* [[Mass]] [[swelling]]
* [[Fever]]
* [[Arthritis]]
* Decreased [[joint]] [[range of motion]]
* [[Lymphadenopathy]]
| style="background:#F5F5F5;" align="left" |
* Alteration in [[retinoblastoma]] [[gene]] ([[Rb]])
| style="background:#F5F5F5;" align="left" |[[Radiography]]:
* [[Osteolytic metasteses|Osteolytic]]/ [[Osteoblastic osteosarcoma|osteoblastic]] feature
* [[Periosteum]] reaction
* [[Calcification]] or [[ossification]]
[[CT scan]]:
* Primary [[lesion]] and [[chest]] [[CT]] are required
* Demonstrate [[tumor]] location and [[extension]]
[[MRI]]:
* Exact assessment of [[tumor]] [[extension]]
* Involving [[joint]] to [[joint]] findings
| style="background:#F5F5F5;" align="left" |
* Contain various [[cellular]] [[pleomorphism]] and [[mitoses]]
* Poorly [[Trabecular bone|trabecular]] [[bone]] formation
* [[Fibrocystic Disease|Fibrocystic]] and chondroblastic features
|-
|-
|[[Polycystic kidney disease]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[liposarcoma]]<ref name="pmid6861094">{{cite journal| author=Shmookler BM, Enzinger FM| title=Liposarcoma occurring in children. An analysis of 17 cases and review of the literature. | journal=Cancer | year= 1983 | volume= 52 | issue= 3 | pages= 567-74 | pmid=6861094 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6861094  }}</ref><ref name="pmid9386667">{{cite journal| author=Marcus KC, Grier HE, Shamberger RC, Gebhardt MC, Perez-Atayde A, Silver B et al.| title=Childhood soft tissue sarcoma: a 20-year experience. | journal=J Pediatr | year= 1997 | volume= 131 | issue= 4 | pages= 603-7 | pmid=9386667 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9386667  }}</ref><ref name="pmid16160117">{{cite journal| author=Murphey MD, Arcara LK, Fanburg-Smith J| title=From the archives of the AFIP: imaging of musculoskeletal liposarcoma with radiologic-pathologic correlation. | journal=Radiographics | year= 2005 | volume= 25 | issue= 5 | pages= 1371-95 | pmid=16160117 | doi=10.1148/rg.255055106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16160117  }}</ref><ref name="pmid17372913">{{cite journal| author=Italiano A, Cardot N, Dupré F, Monticelli I, Keslair F, Piche M et al.| title=Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas? | journal=Int J Cancer | year= 2007 | volume= 121 | issue= 2 | pages= 308-15 | pmid=17372913 | doi=10.1002/ijc.22685 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17372913  }}</ref>
|
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+ (from hypertension)</nowiki>
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|
|
|
* Considered as a nonrhabdomyosarcoma [[soft tissue]] [[sarcomas]]
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref>
* One of the least frequent [[tumors]] during  [[childhood]]
*At least three unilateral or bilateral [[cysts]] in patients 15 - 39 years old
* Rarely seen in adolescents and [[age]] of < 8 years old
*Atleast two [[cysts]] in each [[kidney]] in patients 40 - 59 years old
* [[Average]] [[age]] is 50 years among adults
*Atleast four [[cysts]] in each [[kidney]] in patients 60 years of age or older
* Occur mostly in [[lower extremities]], [[retroperitoneal]] region, and [[shoulder]]  
|
| style="background:#F5F5F5;" align="left" | +
[[Renal]] CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:
| style="background:#F5F5F5;" align="left" | +/-
* Numerous [[renal]] [[cysts]] of varying size and shape with little intervening [[parenchyma]] with water [[attenuation]] and very thin wall.
| style="background:#F5F5F5;" align="left" |
* Reduction in [[sinus]] [[fat]] due to expansion of the [[cortex]]
* [[Weight loss]]
* Occasional complex [[cysts]] with hyperdense appearance, with possible septations or calcifications
* [[Fatigue]]
* Multiple [[homogeneous]] and hypoattenuating [[cystic]] lesions in the [[liver]] in patients with [[liver]] involvement
| style="background:#F5F5F5;" align="left" | -
|
| style="background:#F5F5F5;" align="left" |
*On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref>
* N/A
|-
| style="background:#F5F5F5;" align="left" |
|[[Pheochromocytoma]]
* [[Amplification]] of 12q13–15 region in  [[MDM2]] and [[CDK4]] [[genes]]
|
* [[Translocations|Translocation]] of  t (12;16) (q13;p11.2) in myxoid [[liposarcoma]]
|<nowiki>-</nowiki>
| style="background:#F5F5F5;" align="left" |[[CT scan]]:
|<nowiki>-</nowiki>
* Inhomogenous fatty structure
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki>
* [[Tumor]] [[mineralization]]
|<nowiki>-</nowiki>
* [[Cortical bone|Cortical]] [[bone]] erosion
|<nowiki>-</nowiki>
* [[Calcification]]
|
* Infiltration to [[mediastinum]]
|
[[MRI]]:
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
* [[Adipose]] content [[mass]]
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }}</ref>
* Thin [[Irregular bone|irregular]] [[septa]]
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490  }}</ref>
* [[Hemorrhage]]
 
* [[Necrosis]] areas
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817  }}</ref>
| style="background:#F5F5F5;" align="left" |Divided into following subtypes:
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652  }}</ref>
* Well-differentiated
|
* Dedifferentiated, Myxoid/ round [[cell]]
* On microscopic pathology, [[Pheochromocytoma]] typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing [[eosinophilic]] cytoplasm separated by fibrovascular [[stroma]].
* [[Pleomorphic]]
|-
Common findings:
|[[Burkitt's lymphoma|Burkitt lymphoma]]
* Lipoblasts presence
|
* [[Cytoplasmic]] [[lipid]] [[vacuoles]]
|<nowiki>+/- (in non-endemic or sporadic form of the disease)</nowiki>
* [[Chromatin]] spikes
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|
|
* Abdominal [[ultrasonography]] may show [[splenomegaly]] and [[ascites]].
|
* Chest, abdomen, and pelvis [[CT]] scan may be helpful in the diagnosis of [[Burkitt's lymphoma]] but it is not done routinely.<ref name="medlineplus">Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015</ref>
|
*On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:<ref name="pmid12610094">{{cite journal |author=Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L |title=Burkitt's lymphoma: new insights into molecular pathogenesis |journal=J. Clin. Pathol. |volume=56 |issue=3 |pages=188–92 |year=2003 |month=March |pmid=12610094 |pmc=1769902 |doi= |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=12610094}}</ref>
:*Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- '''key feature''' (i.e. tumor nuclei size similar to that of [[histiocytes]] or [[endothelial cells]])
:*Round nucleus
:*Small nucleoli
:*Relatively abundant cytoplasm ([[basophilic]])
:*Brisk mitotic rate and [[apoptotic]] activity
:*Cellular outline usually appears squared off
:*"Starry-sky pattern":
::*The ''stars'' in the pattern are tingible-body macrophages (macrophages containing [[apoptotic]] tumor cells.
::*The tumour cells are the ''sky''
|-
|-
|[[Intussusception]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[acute myelocytic leukemia]]<ref name="pmid18064533">{{cite journal| author=Yamamoto JF, Goodman MT| title=Patterns of leukemia incidence in the United States by subtype and demographic characteristics, 1997-2002. | journal=Cancer Causes Control | year= 2008 | volume= 19 | issue= 4 | pages= 379-90 | pmid=18064533 | doi=10.1007/s10552-007-9097-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18064533  }}</ref><ref name="pmid23634996">{{cite journal| author=Cancer Genome Atlas Research Network. Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ et al.| title=Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. | journal=N Engl J Med | year= 2013 | volume= 368 | issue= 22 | pages= 2059-74 | pmid=23634996 | doi=10.1056/NEJMoa1301689 | pmc=3767041 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23634996  }}</ref><ref name="pmid3864727">{{cite journal| author=Islam A, Catovsky D, Goldman JM, Galton DA| title=Bone marrow biopsy changes in acute myeloid leukaemia. I: Observations before chemotherapy. | journal=Histopathology | year= 1985 | volume= 9 | issue= 9 | pages= 939-57 | pmid=3864727 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3864727  }}</ref><ref name="pmid17587881">{{cite journal| author=Orazi A| title=Histopathology in the diagnosis and classification of acute myeloid leukemia, myelodysplastic syndromes, and myelodysplastic/myeloproliferative diseases. | journal=Pathobiology | year= 2007 | volume= 74 | issue= 2 | pages= 97-114 | pmid=17587881 | doi=10.1159/000101709 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17587881  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
|<nowiki>+</nowiki>
* Replacement of [[normal]] [[Bone marrow cells|bone marrow]] [[Cells (biology)|cells]] with [[abnormal]] [[Cells (biology)|cells]]
|<nowiki>-</nowiki>
* [[Myeloblasts|Myeloblast]] is [[malignant]] [[cell]]
|<nowiki>-</nowiki>
* Wide [[Distribution (pharmacology)|distribution]] among [[childhood]] to adults
|<nowiki>+/- </nowiki>
* [[Survival rate]] of 60%
|<nowiki>+</nowiki>
* Common in [[down syndrome]]
|
| style="background:#F5F5F5;" align="left" | +/- ( [[Abdominal]] [[mass]], [[mediastinal]] [[mass]])
|
| style="background:#F5F5F5;" align="left" | + ([[bone]] [[pain]], [[joint]] [[pain]])
* [[Ultrasound]] is the [[Gold standard (test)|gold standard]] imaging modality used to diagnose intussusception<ref name="pmid17308922">{{cite journal |vauthors=Ko HS, Schenk JP, Tröger J, Rohrschneider WK |title=Current radiological management of intussusception in children |journal=Eur Radiol |volume=17 |issue=9 |pages=2411–21 |year=2007 |pmid=17308922 |doi=10.1007/s00330-007-0589-y |url=}}</ref>
| style="background:#F5F5F5;" align="left" |
**Target or doughnut sign<ref name="pmid8470658">{{cite journal |vauthors=Boyle MJ, Arkell LJ, Williams JT |title=Ultrasonic diagnosis of adult intussusception |journal=Am. J. Gastroenterol. |volume=88 |issue=4 |pages=617–8 |year=1993 |pmid=8470658 |doi= |url=}}</ref>
* [[Bleeding]]
***Edematous intussuscipien forms an external ring around the centrally located intussusceptum
* [[Infectious]]
***Target sign is usually seen in right lower quadrant
**Layers of intussusception forms pseudo-kidney appearance on the transverse view
|
* [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of intussusception. [[Computed tomography|CT scan]] maybe used when other image modalities like [[x-ray]] and [[ultrasound]] have not given positive results but suspicion of intussusception is high.
|
* Intussusception occurs if there is an imbalance between the longitudinal and radial [[smooth muscle]] forces of [[intestine]] that maintain its normal structure. This imbalance leads to a segment of [[intestine]] to invaginate into another segment and cause entero-enteral intussusception. [[Etiology]] of intussusception is either idiopathic or [[Pathology|pathologic]] (lead point). 
|-
|[[Hydronephrosis]]
|
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>-</nowiki>
| style="background:#F5F5F5;" align="left" |
|<nowiki>-</nowiki>
* [[Lymphadenopathy]]
|<nowiki>+ (CVA tenderness in case of pyelonephritis)</nowiki>
* [[Hepatosplenomegaly]]
|
* [[Bruising]]
|
* [[Petechiae]]
* [[Ultrasound]] allows for visualization of the [[ureters]] and [[kidneys]] and can be used to assess the presence of [[hydronephrosis]] and/or [[hydroureter]]. 
* [[Pallor]] [[face]]
|
* [[Anemia]]
* In the case of [[renal colic]] (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing [[hydronephrosis]] as well as demonstrating the function of the other kidney. Many [[Stones- kidney|stones]] are not visible on [[X ray|plain x ray]] or IVU but 99% of [[Stones- kidney|stones]] are visible on [[CT]] and therefore CT is becoming a common choice of initial investigation.
* [[Fever]]
|
| style="background:#F5F5F5;" align="left" |[[Genetic]] [[translocations]] include:
* The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.
*t (8;21)
*t (3;21)
*t (15;17)
| style="background:#F5F5F5;" align="left" |[[Radiography]]:
*[[Chest]] [[radiography]]:
** [[Diagnosis]] of [[mediastinal]] [[mass]]
*[[Extremities]] [[radiography]]:
** [[Metaphyseal]] [[bands]]
** [[Lytic]] [[lesions]]
** New [[Periosteal reaction|periosteal]] [[bone]] formation
** [[Pathological|Pathologic]] [[fractures]]
[[CT scan]]/ [[MRI]]:
* Thickening/ [[edema]] of the [[bowel]] wall in presence of [[abdominal]] [[pain]] or [[bowel]] [[infection]]
* Detection of early [[sinusitis]]
* [[Intracranial hemorrhage|Intracranial]] [[hemorrhage]] in presence of [[neurological]] [[symptoms]]
[[Radionuclide test|Radionuclide]] [[imaging]]:
* [[Detection theory|Detection]] of [[occult]] [[infection]]
| style="background:#F5F5F5;" align="left" |
* [[Hyperplastic]] [[bone marrow]] with [[leukemia]] [[Cells (biology)|cells]] replacement
* [[Megaloblastic Anemias|Megaloblastic]] feature
* Decrease in [[normal]] [[hematopoietic cell]]
|-
|-
|[[Dysplasia|Dysplastic kidney]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[acute lymphoblastic leukemia]]<ref name="pmid25184049">{{cite journal| author=Zuckerman T, Rowe JM| title=Pathogenesis and prognostication in acute lymphoblastic leukemia. | journal=F1000Prime Rep | year= 2014 | volume= 6 | issue=  | pages= 59 | pmid=25184049 | doi=10.12703/P6-59 | pmc=4108947 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25184049  }}</ref><ref name="pmid18358930">{{cite journal| author=Pui CH, Robison LL, Look AT| title=Acute lymphoblastic leukaemia. | journal=Lancet | year= 2008 | volume= 371 | issue= 9617 | pages= 1030-43 | pmid=18358930 | doi=10.1016/S0140-6736(08)60457-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18358930  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
|N/A
* The most common [[malignancy]] among children
|N/A
* Few cases may associated with [[down syndrome]], wiskott-  aldrich syndrome, and [[ataxia-telangiectasia]]
|N/A
* Peak [[age]] of 2-5 years old
|N/A
* Previous history of [[cancer]]/ [[drug]] [[Exposure (photography)|exposure]]
|N/A
* [[Bone marrow]] replaced with [[malignant]] [[lymphoblasts]]
|
| style="background:#F5F5F5;" align="left" |
|
+/-( Extramedullary [[mass]] in  [[abdomen]]/ [[head]]/ [[neck]])
MCDK is usually diagnosed by [[ultrasound]] examination before birth.
| style="background:#F5F5F5;" align="left" | +/- ([[Musculoskeletal]] [[pain]])
* Mass of non-communicating cysts of variable size.
| style="background:#F5F5F5;" align="left" |
* Unlike severe [[hydronephrosis]], in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.
* [[Weakness]]
* [[Dysplasia|Dysplastic]], echogenic [[parenchyma]] may be visible between the cysts, but no normal renal parenchyma is seen.
* [[Fatigue]]
|
* [[Weight loss]]
* MCKD can be discovered accidentally on [[CT]] scan.
* [[Bleeding]]
* [[CT scan]] shows myltiple cysts with absence of renal parenchyma.
| style="background:#F5F5F5;" align="left" | -
|
| style="background:#F5F5F5;" align="left" |
* MCKD is the result of abnormal differentiation of the renal parenchyma.
* [[Fever]]
* [[Lymphadenopathy]]
* [[Hepatosplenomegaly]]
* [[Pallor]]
* [[Papilledema]]
* [[Meningism|Nuchal rigidity]]
* [[Cranial nerve palsy]]
* [[Dyspnea]]
| style="background:#F5F5F5;" align="left" |[[Chromosomal]] [[translocations]]:
* t (9;22)
* t (12;21)
* t (5;14)
* t (1;19)
| style="background:#F5F5F5;" align="left" |[[Radiography]]:
[[Chest]] [[x ray]]:
* [[Nodular]] [[mass]]
* [[Central]] [[lymphadenopathy]]
[[Bone]] [[x ray]]:
* Radiolucent [[metaphyseal]] [[bands]]
* Coarse trabeculation
* [[Periosteal reaction]]
* [[Osteopenia]]
[[Brain]] [[MRI]]:
* [[Leukoencephalopathy]]
* [[Glial cell]] [[hyperplasia]]
* [[Meningitis]]
| style="background:#F5F5F5;" align="left" |Divided into 3 subgroups:
L1:
* Small [[lymphoblast]] [[Cells (biology)|cells]]
* Scant [[cytoplasm]]
* Invisible [[nucleoli]]
L2:
* Larger [[lymphoblast]] [[Cells (biology)|cells]]
* Abundant [[cytoplasm]]
* Prominent [[nucleoli]]
L3:
* Large [[lymphoblast]] [[Cells (biology)|cells]]
* Deep [[cytoplasmic]] [[basophilia]]
* Similar to [[Burkitt lymphoma]]
|-
|-
|[[Neuroblastoma|Pediatric Neuroblastoma]]
! style="background:#DCDCDC;" align="center" |[[Pediatric]] [[Non-Hodgkin lymphoma|non-hodgkin]] [[lymphoma]]<ref name="pmid23297126">{{cite journal| author=Green MR, Gentles AJ, Nair RV, Irish JM, Kihira S, Liu CL et al.| title=Hierarchy in somatic mutations arising during genomic evolution and progression of follicular lymphoma. | journal=Blood | year= 2013 | volume= 121 | issue= 9 | pages= 1604-11 | pmid=23297126 | doi=10.1182/blood-2012-09-457283 | pmc=3587323 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23297126  }}</ref><ref name="pmid26174528">{{cite journal| author=Sandlund JT| title=Non-Hodgkin Lymphoma in Children. | journal=Curr Hematol Malig Rep | year= 2015 | volume= 10 | issue= 3 | pages= 237-43 | pmid=26174528 | doi=10.1007/s11899-015-0277-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26174528 }}</ref><ref name="pmid25655608">{{cite journal| author=El-Galaly TC, Hutchings M| title=Imaging of non-Hodgkin lymphomas: diagnosis and response-adapted strategies. | journal=Cancer Treat Res | year= 2015 | volume= 165 | issue=  | pages= 125-46 | pmid=25655608 | doi=10.1007/978-3-319-13150-4_5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25655608  }}</ref>
|
| style="background:#F5F5F5;" align="left" |
|<nowiki>+</nowiki>
* [[Cancer]] derives from [[lymphocytes]]
|<nowiki>-</nowiki>
* Diverse [[age]] of incidence
|<nowiki>-</nowiki>
* Associated with [[autoimmune disorders]], previous [[cancer]] [[therapy]], and [[infection]]
|<nowiki>+/-</nowiki>
| style="background:#F5F5F5;" align="left" | +
|<nowiki>+/-</nowiki>
| style="background:#F5F5F5;" align="left" | -
|
| style="background:#F5F5F5;" align="left" |
|
* [[Lymph node]] [[swelling]]
* On ultrasound, neuroblastoma is characterized by a heterogeneous [[echogenicity]] due to the [[vascular]], [[necrotic]], and calcified content of the mass.<ref name="radio">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref>
* [[Weight loss]]
|
* [[Anorexia]]
*CT scan is the investigation of choice for the diagnosis of neuroblastoma.<ref name="pmid21736987">{{cite journal| author=Colon NC, Chung DH| title=Neuroblastoma. | journal=Adv Pediatr | year= 2011 | volume= 58 | issue= 1 | pages= 297-311 | pmid=21736987 | doi=10.1016/j.yapd.2011.03.011 | pmc=PMC3668791 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21736987 }}</ref>
* [[Abdominal]] [[pain]]
*On CT scan, neuroblastoma is characterized by:<ref name="radio2">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref>
 
:*Heterogeneous mass
* [[Nausea]]/ [[vomiting]]
:*[[Calcification]]
| style="background:#F5F5F5;" align="left" | + ([[Chest]] [[tenderness]])
:*[[Necrosis]]
| style="background:#F5F5F5;" align="left" |
:*Compression of the surrounding vessels
* [[Fever]]
:*Invasion of the [[psoas]] [[muscle]] or [[kidney]]s
* [[Hepatosplenomegaly]]
:*Swollen [[lymph node]]s
* [[Lymphadenopathy]]
|
* [[Seizure]]
*On microscopic histopathological analysis the presence of round blue cells separated by thin [[fibrous]] septa are characteristic findings of neuroblastoma.
* [[Petechiae]]
*Other findings of neuroblastoma on [[light microscopy]] may include:<ref name="patho">Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015</ref>
| style="background:#F5F5F5;" align="left" |
:*Homer-Wright rosettes (rosettes with a small  meshwork of fibers at the center)
* [[MLL2]]
:*Neuropil-like [[stroma]] (paucicellular stroma with a cotton candy-like appearance)
* [[MEF2B]]
*On [[electron microscopy]] neuroblastoma is characterized by:
* [[EZH2]]
:*Dendritic processes with longitudinally oriented [[microtubule]]s
* [[EP300]]
:*Membrane bound electron-dense [[granule]]s that contain [[catecholamine]]s
* [[KMT2D]]
:*Presence of [[desmosomes]]
* [[CDKN2A]]
:*Absence of [[glycogen]]
| style="background:#F5F5F5;" align="left" |[[Radiography]]:
|-
*[[Chest]] [[x ray]]:
|[[Mesoblastic nephroma]]
** [[Central]] [[lymphadenopathy]]
|
** [[Pleural effusion]]
|<nowiki>+</nowiki>
** [[Pericardial effusion]]
|<nowiki>+</nowiki>
[[CT scan]]:
|<nowiki>-</nowiki>
* Presence of enlarged [[lymph node]] in [[chest]], [[abdomen]], and [[pelvis]]
|<nowiki>+</nowiki>
[[Ultrasound]]:
|<nowiki>-</nowiki>
* [[Hepatosplenomegaly]]
|
| style="background:#F5F5F5;" align="left" |[[Histology]] findings of [[Non-Hodgkin lymphoma|non-hodgkin]] [[lymphoma]] depend on:
|
* [[Cell]] [[differentiation]]
*[[Ultrasound]] may be helpful in the diagnosis of mesoblastic nephroma.
* [[Cell]] [[Lineage (evolution)|lineage]]
*Mesoblastic nephroma may presents as a well-defined [[mass]] with low-level homogeneous echoes.<ref name="radio3">Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma</ref>
* Location of [[cell]] [[origin]]
*The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of [[mesoblastic nephroma]].
|
* [[CT scan]] may be helpful in the diagnosis of mesoblastic nephroma.
* Findings on CT scan suggestive of mesoblastic nephroma include:
:* Solid hypoattenuating renal lesion
:* Variable contrast enhancement
:* No [[calcification]]
|
Classic mesoblastic nephroma
* [[Spindle cells]] in [[fascicles]]
* Infiltrative border
Cellular mesoblastic nephroma
* Plump cells with vesicular nuclei
* Well-defined border
* Mitotically active
Mixed mesoblastic nephroma
* Both classic pattern and cellular pattern areas are present
|}
|}


Latest revision as of 13:26, 2 April 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Overview

Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocytic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy.

Differential Diagnosis

Disease History/demography Symptoms Physical examination Diagnosis
Palpable mass Pain Others Mass tenderness Others Genetics Imaging Histology
Rhabdomyosarcoma[1][2][3][4]
  • Most common soft tissue cancer among children and adolescents
  • The third most common extracranial solid tumors
  • Two-third of all cases happen under 6 years old
 + + +/-

Mutations in:

CT scan:

Ultrasound:

MRI:

Wilms tumor[5][6][7][8][9] + + +/- Present mutations of: Ultrasound:

CT scan:

Ewing sarcoma[10][11][12][13] + + + Radiographic of region:

CT scan:

MRI:

Pediatric neuroblastoma [14][15][16][17]

Age distribution:

  • < 1 years old ( 40%)
  • 1-2 years old (35%)
  • > 2 years old (25%)

+ (Abdominal)

+

+(Abdominal)

CT scan:

MRI:

Pediatric pheochromocytoma[18][19][20][21] - +/- - Genetic mutation in: Ultrasound:

CT scan:

MRI (in extra adrenal tumors):

  • T1:
    • Heterogenous enhancement
    • Hypointense
  • T2:
    • Hyperintense
  • T1 C+ (Gd):
    • Heterogenous enhancement

Positive stains for:

Pediatric osteosarcoma[22][23][24] + + + Radiography:

CT scan:

MRI:

Pediatric liposarcoma[25][26][27][28] + +/- -
  • N/A
 CT scan:

MRI:

Divided into following subtypes:

Common findings:

Pediatric acute myelocytic leukemia[29][30][31][32] +/- ( Abdominal mass, mediastinal mass) + (bone pain, joint pain) +/- Genetic translocations include:
  • t (8;21)
  • t (3;21)
  • t (15;17)
 Radiography:

CT scan/ MRI:

Radionuclide imaging:

Pediatric acute lymphoblastic leukemia[33][34]

+/-( Extramedullary mass in abdomen/ head/ neck)

+/- (Musculoskeletal pain) - Chromosomal translocations:
  • t (9;22)
  • t (12;21)
  • t (5;14)
  • t (1;19)
 Radiography:

Chest x ray:

Bone x ray:

Brain MRI:

Divided into 3 subgroups:

L1:

L2:

L3:

Pediatric non-hodgkin lymphoma[35][36][37] + - + (Chest tenderness) Radiography:

CT scan:

Ultrasound:

Histology findings of non-hodgkin lymphoma depend on:

References

  1. ↑ Egas-Bejar D, Huh WW (2014). "Rhabdomyosarcoma in adolescent and young adult patients: current perspectives". Adolesc Health Med Ther. 5: 115–25. doi:10.2147/AHMT.S44582. PMC 4069040. PMID 24966711.
  2. ↑ Dasgupta R, Fuchs J, Rodeberg D (2016). "Rhabdomyosarcoma". Semin Pediatr Surg. 25 (5): 276–283. doi:10.1053/j.sempedsurg.2016.09.011. PMID 27955730.
  3. ↑ Park K, van Rijn R, McHugh K (2008). "The role of radiology in paediatric soft tissue sarcomas". Cancer Imaging. 8: 102–15. doi:10.1102/1470-7330.2008.0014. PMC 2365455. PMID 18442956.
  4. ↑ Shern JF, Yohe ME, Khan J (2015). "Pediatric Rhabdomyosarcoma". Crit Rev Oncog. 20 (3–4): 227–43. PMC 5486973. PMID 26349418.
  5. ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
  6. ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
  7. ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
  8. ↑ Coppes MJ, Pritchard-Jones K (2000). "Principles of Wilms' tumor biology". Urol Clin North Am. 27 (3): 423–33, viii. PMID 10985142.
  9. ↑ Davidoff AM (2012). "Wilms tumor". Adv Pediatr. 59 (1): 247–67. doi:10.1016/j.yapd.2012.04.001. PMC 3589819. PMID 22789581.
  10. ↑ Burchill SA (2003). "Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities". J Clin Pathol. 56 (2): 96–102. PMC 1769883. PMID 12560386.
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