Rhabdomyosarcoma differential diagnosis: Difference between revisions
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! 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=" | ! 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 | ||
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! 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 | ||
! | ! 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 | ||
|- | |- | ||
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* FGFR4 | * FGFR4 | ||
* [[Translocations]] in [[PAX3]] or [[PAX7]] genes with [[FOXO1]] | * [[Translocations]] in [[PAX3]] or [[PAX7]] genes with [[FOXO1]] | ||
|CT scan: | |||
* Soft tissue density | * Soft tissue density | ||
* Enhancement with contrast | * Enhancement with contrast | ||
Line 104: | Line 104: | ||
* FWT1 | * FWT1 | ||
* FWT2 11p15.5 loci | * FWT2 11p15.5 loci | ||
|Ultrasound: | |||
*The best initial diagnostic study. | *The best initial diagnostic study. | ||
*Distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]]. | *Distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]]. | ||
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| | | | ||
* Reciprocal translocation between chromosomes 11 and 22 | * Reciprocal translocation between chromosomes 11 and 22 | ||
|Plain radiographic of region: | |||
* Poorly marginated destructive lesion | * Poorly marginated destructive lesion | ||
* Permeative or "moth-eaten" appearance | * Permeative or "moth-eaten" appearance | ||
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* Chromosome1p deletion | * Chromosome1p deletion | ||
* N-myc amplification | * N-myc amplification | ||
|CT scan: | |||
* Heterogeneous mass | * Heterogeneous mass | ||
* Calcifications | * Calcifications | ||
Line 240: | Line 240: | ||
* HIF2A | * HIF2A | ||
* FH | * FH | ||
|Ultrasound: | |||
* Different appearance from solid to mixed cystic or solid to cystic | * Different appearance from solid to mixed cystic or solid to cystic | ||
CT scan: | CT scan: | ||
Line 288: | Line 288: | ||
| | | | ||
* Alteration in retinoblastoma gene (Rb) | * Alteration in retinoblastoma gene (Rb) | ||
|Plain radiography: | |||
* Osteolytic/ osteoblastic feature | * Osteolytic/ osteoblastic feature | ||
* Periosteum reaction | * Periosteum reaction | ||
Line 323: | Line 323: | ||
* Amplification of 12q13–15 region in MDM2 and CDK4 genes | * Amplification of 12q13–15 region in MDM2 and CDK4 genes | ||
* Translocation of t(12;16)(q13;p11.2) in myxoid liposarcoma | * Translocation of t(12;16)(q13;p11.2) in myxoid liposarcoma | ||
|CT scan: | |||
* Inhomogenous fatty structure | * Inhomogenous fatty structure | ||
* Tumor mineralization | * Tumor mineralization | ||
Line 369: | Line 369: | ||
*t(3;21) | *t(3;21) | ||
*t(15;17) | *t(15;17) | ||
|Radiography: | |||
Chest radiography: | Chest radiography: | ||
Line 421: | Line 421: | ||
* t(5;14) | * t(5;14) | ||
* t(1;19) | * t(1;19) | ||
|Radiography: | |||
Chest x ray: | Chest x ray: | ||
* Nodular masses | * Nodular masses | ||
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* Similar to Burkitt lymphoma | * Similar to Burkitt lymphoma | ||
|- | |- | ||
| | |Pediatric 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> | ||
| | | | ||
| | * Cancer derives from lymphocytes | ||
| | * diverse age of incidence | ||
| | * Associated with autoimmune disorders, previous cancer therapy, and infection | ||
| | | + | ||
| | | - | ||
|Lymph node swelling | |||
Weight loss | |||
Anorexia | |||
Abdominal pain | |||
Nausea/ vomitting | |||
| + (Chest tenderness) | |||
|Fever | |||
Hepatosplenomegaly | |||
Lymphadenopathy | |||
Seizure | |||
Petechiae | |||
| | | | ||
* [[MLL2]] | |||
* | * [[MEF2B]] | ||
* [[EZH2]] | |||
* | * [[EP300]] | ||
* [[KMT2D]] | |||
* [[CDKN2A]] | |||
|Radiography: | |||
:* | Chest x ray: | ||
* Central lymphadenopathy | |||
* Pleural effusion | |||
:* | * Pericardial effusion | ||
:* | CT scan: | ||
:* | * Presence of enlarged lymph node in chest, abdomen, and pelvis | ||
Ultrasound: | |||
* Hepatosplenomegaly | |||
|Histology findings of non-hodgkin lymphoma depend on: | |||
* Cell differentiation | |||
* Cell lineage | |||
* Location of cell origin | |||
|} | |} | ||
Revision as of 14:22, 4 March 2019
Rhabdomyosarcoma Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Rhabdomyosarcoma differential diagnosis On the Web |
American Roentgen Ray Society Images of Rhabdomyosarcoma differential diagnosis |
Risk calculators and risk factors for Rhabdomyosarcoma differential diagnosis |
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 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.
Differential Diagnosis
- Rhabdomyosarcoma must be differentiated from following diseases:
Disease | History/demography | Symptoms | Physical examination | Diagnosis | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Palpable mass | Pain | Others | Mass tenderness | Others | Genetics | Imaging | Histology | |||
Rhabdomyosarcoma[1][2][3][4] |
|
+ | + |
|
+/- |
|
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] |
|
+ | + | Weight loss/ fatigue | + |
|
|
Plain radiographic of region:
CT scan:
MRI:
|
| |
Pediatric neuroblastoma [14][15][16][17] |
Age distribution:
|
+ (Abdominal) |
+ |
|
+ (Abdominal) |
|
|
CT scan:
MRI: T1:
T2:
C+ (Gd):
|
| |
Pediatric pheochromocytoma[18][19][20][21] |
|
- | +/- |
|
- |
|
Genetic mutation in:
|
Ultrasound:
CT scan:
MRI (in extra adrenal tumors): T1:
T2:
T1 C+ (Gd):
|
Positive stains for:
| |
Pediatric osteosarcoma[22][23][24] |
|
+ | + |
|
+ |
|
|
Plain radiography:
CT scan:
MRI:
|
| |
Pediatric liposarcoma[25][26][27][28] | Considered as a nonrhabdomyosarcoma soft tissue sarcomas
One of the least frequent tumors during childhood Rarely seen in adolescents and age of < 8 years old Average age is 50 years among adults Occur mostly in lower extremities, retroperitoneal region, and shoulder |
+ | +/- |
|
- |
|
|
CT scan:
MRI:
|
Divided into following subtypes:
Common findings:
| |
Pediatric acute myelocystic leukemia[29][30][31][32] |
|
+/- ( Abdominal mass, mediastinal mass) | + (bone pain, joint pain) |
|
+/- |
|
Genetic translocations include:
|
Radiography:
Chest radiography:
Extremities radiography:
CT scan/ MRI:
Radionuclide imaging:
|
| |
Pediatric acute lymphoblastic leukemia[33][34] |
|
+/-( Extramedullary masses in abdomen/ head/neck) |
+/- (Musculoskeletal pain) |
|
- |
|
Chromosomal translocations:
|
Radiography:
Chest x ray:
Bone x ray:
Brain MRI:
|
Divided into 3 subgroups:
L1:
L2:
L3:
| |
Pediatric non-hodgkin lymphoma[35] |
|
+ | - | Lymph node swelling
Weight loss Anorexia Abdominal pain Nausea/ vomitting |
+ (Chest tenderness) | Fever
Hepatosplenomegaly Lymphadenopathy Seizure Petechiae |
Radiography:
Chest x ray:
CT scan:
Ultrasound:
|
Histology findings of non-hodgkin lymphoma depend on:
|
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Shern JF, Yohe ME, Khan J (2015). "Pediatric Rhabdomyosarcoma". Crit Rev Oncog. 20 (3–4): 227–43. PMC 5486973. PMID 26349418.
- ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
- ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
- ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
- ↑ Coppes MJ, Pritchard-Jones K (2000). "Principles of Wilms' tumor biology". Urol Clin North Am. 27 (3): 423–33, viii. PMID 10985142.
- ↑ Davidoff AM (2012). "Wilms tumor". Adv Pediatr. 59 (1): 247–67. doi:10.1016/j.yapd.2012.04.001. PMC 3589819. PMID 22789581.
- ↑ 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.
- ↑ Maygarden SJ, Askin FB, Siegal GP, Gilula LA, Schoppe J, Foulkes M; et al. (1993). "Ewing sarcoma of bone in infants and toddlers. A clinicopathologic report from the Intergroup Ewing's Study". Cancer. 71 (6): 2109–18. PMID 8443760.
- ↑ Panicek DM, Gatsonis C, Rosenthal DI, Seeger LL, Huvos AG, Moore SG; et al. (1997). "CT and MR imaging in the local staging of primary malignant musculoskeletal neoplasms: Report of the Radiology Diagnostic Oncology Group". Radiology. 202 (1): 237–46. doi:10.1148/radiology.202.1.8988217. PMID 8988217.
- ↑ Grünewald TGP, Cidre-Aranaz F, Surdez D, Tomazou EM, de Álava E, Kovar H; et al. (2018). "Ewing sarcoma". Nat Rev Dis Primers. 4 (1): 5. doi:10.1038/s41572-018-0003-x. PMID 29977059.
- ↑ Lonergan GJ, Schwab CM, Suarez ES, Carlson CL (2002). "Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation". Radiographics. 22 (4): 911–34. doi:10.1148/radiographics.22.4.g02jl15911. PMID 12110723.
- ↑ Golden CB, Feusner JH (2002). "Malignant abdominal masses in children: quick guide to evaluation and diagnosis". Pediatr Clin North Am. 49 (6): 1369–92, viii. PMID 12580370.
- ↑ Angstman KB, Miser JS, Franz WB (1990). "Neuroblastoma". Am Fam Physician. 41 (1): 238–44. PMID 2403727.
- ↑ Musarella MA, Chan HS, DeBoer G, Gallie BL (1984). "Ocular involvement in neuroblastoma: prognostic implications". Ophthalmology. 91 (8): 936–40. PMID 6493702.
- ↑ Leung K, Stamm M, Raja A, Low G (2013). "Pheochromocytoma: the range of appearances on ultrasound, CT, MRI, and functional imaging". AJR Am J Roentgenol. 200 (2): 370–8. doi:10.2214/AJR.12.9126. PMID 23345359.
- ↑ Stein PP, Black HR (1991). "A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution's experience". Medicine (Baltimore). 70 (1): 46–66. PMID 1988766.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Dorfman HD, Czerniak B (1995). "Bone cancers". Cancer. 75 (1 Suppl): 203–10. PMID 8000997.
- ↑ Yarmish G, Klein MJ, Landa J, Lefkowitz RA, Hwang S (2010). "Imaging characteristics of primary osteosarcoma: nonconventional subtypes". Radiographics. 30 (6): 1653–72. doi:10.1148/rg.306105524. PMID 21071381.
- ↑ Araki N, Uchida A, Kimura T, Yoshikawa H, Aoki Y, Ueda T; et al. (1991). "Involvement of the retinoblastoma gene in primary osteosarcomas and other bone and soft-tissue tumors". Clin Orthop Relat Res (270): 271–7. PMID 1884549.
- ↑ Shmookler BM, Enzinger FM (1983). "Liposarcoma occurring in children. An analysis of 17 cases and review of the literature". Cancer. 52 (3): 567–74. PMID 6861094.
- ↑ Marcus KC, Grier HE, Shamberger RC, Gebhardt MC, Perez-Atayde A, Silver B; et al. (1997). "Childhood soft tissue sarcoma: a 20-year experience". J Pediatr. 131 (4): 603–7. PMID 9386667.
- ↑ Murphey MD, Arcara LK, Fanburg-Smith J (2005). "From the archives of the AFIP: imaging of musculoskeletal liposarcoma with radiologic-pathologic correlation". Radiographics. 25 (5): 1371–95. doi:10.1148/rg.255055106. PMID 16160117.
- ↑ Italiano A, Cardot N, Dupré F, Monticelli I, Keslair F, Piche M; et al. (2007). "Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas?". Int J Cancer. 121 (2): 308–15. doi:10.1002/ijc.22685. PMID 17372913.
- ↑ Yamamoto JF, Goodman MT (2008). "Patterns of leukemia incidence in the United States by subtype and demographic characteristics, 1997-2002". Cancer Causes Control. 19 (4): 379–90. doi:10.1007/s10552-007-9097-2. PMID 18064533.
- ↑ Cancer Genome Atlas Research Network. Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ; et al. (2013). "Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia". N Engl J Med. 368 (22): 2059–74. doi:10.1056/NEJMoa1301689. PMC 3767041. PMID 23634996.
- ↑ Islam A, Catovsky D, Goldman JM, Galton DA (1985). "Bone marrow biopsy changes in acute myeloid leukaemia. I: Observations before chemotherapy". Histopathology. 9 (9): 939–57. PMID 3864727.
- ↑ Orazi A (2007). "Histopathology in the diagnosis and classification of acute myeloid leukemia, myelodysplastic syndromes, and myelodysplastic/myeloproliferative diseases". Pathobiology. 74 (2): 97–114. doi:10.1159/000101709. PMID 17587881.
- ↑ Zuckerman T, Rowe JM (2014). "Pathogenesis and prognostication in acute lymphoblastic leukemia". F1000Prime Rep. 6: 59. doi:10.12703/P6-59. PMC 4108947. PMID 25184049.
- ↑ Pui CH, Robison LL, Look AT (2008). "Acute lymphoblastic leukaemia". Lancet. 371 (9617): 1030–43. doi:10.1016/S0140-6736(08)60457-2. PMID 18358930.
- ↑ Green MR, Gentles AJ, Nair RV, Irish JM, Kihira S, Liu CL; et al. (2013). "Hierarchy in somatic mutations arising during genomic evolution and progression of follicular lymphoma". Blood. 121 (9): 1604–11. doi:10.1182/blood-2012-09-457283. PMC 3587323. PMID 23297126.