Rhabdomyosarcoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Suveenkrishna Pothuru, M.B,B.S. [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]
  • 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
 + +
  • Skin changes
  • Respiratory difficulties
  • Vomitting
  • Hematuria
 +/-
  • Fever
  • Erythmatous skin
  • Proptosis
  • Ophtalmoplasia
  • Dysconjugate gaze

Mutations in:

CT scan:
  • Soft tissue density
  • Enhancement with contrast
  • Bone destruction

Ultrasound:

  • Well-defined and irregular mass
  • Low to medium echogenicity

MRI:

  • T1:
    • Low to intermediate intensity
    • Hemorrhage areas are poresent in alveolar rhabdomyosarcoma
  • T2:
    • Hyperintense
    • Prominent flow voids are present in extremity lesions of rhabdomyosarcoma
  • T1 C+ (Gd):
    • Considerable enhancement
  • An appearance of round blue cell tumors
  • Myogenesis pathway has various types of differentiation
  • Positive immunohistochemical results for:
    • myoglobin
    • actin
    • desmin
    • Myogenin
Wilms tumor[5][6][7][8][9]
  • Also called nephroblastoma
  • The most common childhood abdominal malignancy
  • Average age of 3.5 years old
 + +
  • Hematuria
  • Respiratory symptoms ( due to lung metastases)
 +/-
  • Fever
  • Hypertension/ hypotension
 Present mutations of:
  • WT1
  • P53
  • FWT1
  • FWT2 11p15.5 loci
 Ultrasound:

CT scan:

  • Heterogeneous soft-tissue density masses
  • Areas of calcification and fat-density regions
  • Arises from mesodermal precursors of the renal parenchyma
  • Well-circumscribed/ macrolobulated lesion
  • Hemorrhage/ central necrosis may be present
  • It is comprised of 3 types of cells:
Ewing sarcoma[10][11][12][13]
  • Include ewing sarcoma, askin tumor, and peripheral primitive neuroectodermal tumors
  • 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
 + + Weight loss/ fatigue +
  • Fever
  • Pathologic fractures
  • Petachia/ purpura
  • Reciprocal translocation between chromosomes 11 and 22
 Plain radiographic of region:
  • Poorly marginated destructive lesion
  • Permeative or "moth-eaten" appearance

CT scan:

  • Cortical destruction
  • Demonstrate soft tissue disease

MRI:

  • Considered as a preferred diagnostic study
  • Better shows tumor size/ intraosseous/extraosseous extent
  • Small/ round/ blue cell tumors
  • May be undifferentiated or differentiated,
  • Regular sized primitive appearing cells
Pediatric neuroblastoma [14][15][16][17]
  • Most common extracranial solid tumor of infancy
  • Arising from pluripotent sympathetic cells

Age distribution:

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

+ (Abdominal)

+
  • Constipation
  • Weakness
  • Diarrhea

+

(Abdominal)

  • Proptosis
  • Periorbital ecchymosis
  • Horner syndrome
  • Opsoclonus myoclonus syndrome
  • Chromosome1p deletion
  • N-myc amplification
 CT scan:
  • Heterogeneous mass
  • Calcifications
  • Necrotic areas

MRI:

T1:

  • heterogeneous mass

T2:

  • heterogeneous/ hyperintense
  • cystic/necrotic areas

C+ (Gd):

  • Heterogeneous mass
  • Well defined/ infiltrative mass
  • Homer wright rosettes
  • Secretion of vanillylmandelic acid (VMA) and homovanillic acid (HVA)
Pediatric pheochromocytoma[18][19][20][21]
  • Rare catecholamine-secreting tumor
  • Occur in both children and adults
  • Average age of 11 years old
  • Associated with neurofibromatosis, von Hippel-Lindau disease, tuberous sclerosis, Sturge-Weber syndrome, and multiple endocrine neoplasia (MEN) syndromes
 - +/-
  • Headache
  • sweating
  • Weakness
  • Convulsion
 -
  • Hypertension
  • Tachycardia
  • Pallor face
 Genetic mutation in:
  • NF1
  • RET
  • VHL
  • SDHD
  • SDHC
  • EGLN1
  • EGLN2
  • KIF1B
  • SDHAF2
  • TMEM127
  • SDHA
  • IDH1
  • SDHB
  • MAX
  • HIF2A
  • FH
 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

T2:

  • Hyperintense

T1 C+ (Gd):

  • Heterogenous enhancement
  • Zellballen pattern on microscopy
  • Well-defined clusters
  • Eosinophilic cytoplasm

Positive stains for:

  • Chromogranin for zellballlen cells
  • Neurospecific enolase markers for neuronal cells
  • S-100 protein for sustentacular cells
Pediatric osteosarcoma[22][23][24]
  • The second most common primary bone tumor
  • The third most common tumor among adolescents
  • Can be primary or secondary
  • Primary osteosarcoma occurs in age of 10-20 years old
  • Secondary osteosarcoma occurs in older patients and is secondary to paget disease and bone infarcts
  • Accompanied with positive history of trauma
 + +
  • Soft tissue swelling
  • Fracture
  • Night sweating
 +
  • Mass swelling
  • Fever
  • Arthritis
  • Decreased joint range of motion
  • Lymphadenopathy
  • Alteration in retinoblastoma gene (Rb)
 Plain radiography:
  • Osteolytic/ 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
  • Contain various cellular pleomorphism and mitoses
  • Poorly trabecular bone formation
  • Fibrocystic and chondroblastic features
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

+ +/-
  • Weight loss
  • Fatigue
 -
  • N/A
  • Amplification of 12q13–15 region in MDM2 and CDK4 genes
  • Translocation of t(12;16)(q13;p11.2) in myxoid liposarcoma
 CT scan:
  • Inhomogenous fatty structure
  • Tumor mineralization
  • Cortical bone erosion
  • Calcification
  • Infiltration to medistinum

MRI:

  • Adipose content mass
  • Thin irregular septa
  • Hemorrhage
  • Necrosis areas
 Divided into following subtypes:
  • Well-differentiated
  • Dedifferentiated, Myxoid/roundcell
  • Pleomorphic

Common findings:

  • Lipoblasts presence
  • Cytoplasmic lipid vacuoles
  • Chromatin spikes
Pediatric acute myelocystic leukemia[29][30][31][32]
  • Replacement of normal bone marrow cells with abnormal cells
  • Myeloblast is malignant cell
  • Wide distribution among childhood to adults
  • Survival rate of 60%
  • Common in down syndrome
 +/- ( Abdominal mass, mediastinal mass) + (bone pain, joint pain)
  • Bleeding
  • Infectious
 +/-
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Bruising
  • Petechiae
  • Pallor face
  • Anemia
  • Fever
 Genetic translocations include:
  • t(8;21)
  • t(3;21)
  • t(15;17)
 Radiography:

Chest radiography:

  • Diagnosis of mediastinal mass

Extremities radiography:

  • Metaphyseal bands
  • Lytic lesions
  • New periosteal bone formation
  • Pathologic fractures

CT scan/ MRI:

  • Thickening/ edema of the bowel wall in presence of abdominal pain or bowl infection
  • Detection of early sinusitis
  • Intracranial hemorrhage in presence of neurological symptoms

Radionuclide imaging:

  • Detection of occult infection
  • Hyperplastic bone marrow with leukemia cells replacement
  • Megaloblastic feature
  • decrease in normal hematopoietic cell
Pediatric acute lymphoblastic leukemia[33][34]
  • The most common malignancy among children
  • Few cases may associated with down syndrome, wiskott-aldrich syndrome, andataxia-telangiectasia
  • Peak age of 2-5 years old
  • Previous history of cancer/ drug exposure
  • Bone marrow replaced with malognant lymphoblasts

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

+/- (Musculoskeletal pain)
  • Weakness
  • Fatigue
  • Weight loss
  • Bleesing
 -
  • Fever
  • Lymphadenopathy
  • Hepatosplenomegaly
 Chromosomal translocations:
  • t(9;22)
  • t(12;21)
  • t(5;14)
  • t(1;19)
 Radiography:

Chest x ray:

  • Nodular masses
  • Central lymphadenopathy

Bone x ray:

  • Radiolucent metaphyseal bands
  • Coarse trabeculation
  • Periosteal reactions
  • Osteopenia

Brain MRI:

  • Leukoencephalopathy
  • Glial cell hyperplasia
  • Meningitis
 Divided into 3 subgroups:

L1:

  • Small lymphoblast cells
  • Scant cytoplasm
  • Invisible nucleoli

L2:

  • Larger lymphoblast cells
  • Abundant cytoplasm
  • Prominent nucleoli

L3:

  • Large lymphoblast cells
  • Deep cytoplasmic basophilia
  • Similar to Burkitt lymphoma
Burkitt lymphoma +/- (in non-endemic or sporadic form of the disease) - - - -
  • Chest, abdomen, and pelvis CT scan may be helpful in the diagnosis of Burkitt's lymphoma but it is not done routinely.[35]
  • On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:[36]
  • 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

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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ Angstman KB, Miser JS, Franz WB (1990). "Neuroblastoma". Am Fam Physician. 41 (1): 238–44. PMID 2403727.
  17. ↑ Musarella MA, Chan HS, DeBoer G, Gallie BL (1984). "Ocular involvement in neuroblastoma: prognostic implications". Ophthalmology. 91 (8): 936–40. PMID 6493702.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  21. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  22. ↑ Dorfman HD, Czerniak B (1995). "Bone cancers". Cancer. 75 (1 Suppl): 203–10. PMID 8000997.
  23. ↑ 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.
  24. ↑ 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.
  25. ↑ 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.
  26. ↑ 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.
  27. ↑ 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.
  28. ↑ 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.
  29. ↑ 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.
  30. ↑ 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.
  31. ↑ 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.
  32. ↑ 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.
  33. ↑ 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.
  34. ↑ 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.
  35. ↑ Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
  36. ↑ Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L (2003). "Burkitt's lymphoma: new insights into molecular pathogenesis". J. Clin. Pathol. 56 (3): 188–92. PMC 1769902. PMID 12610094. Unknown parameter |month= ignored (help)

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