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Chapter 6: Rhabdmyosarcoma and Skeletal Muscle Sarcomas
This rare sarcoma typically affects children. Rhabdmyosarcomas are themselves a separate family of sarcomas, with several recognized subtypes. Treatment for these sarcomas nearly always involves surgery, radiation, and chemotherapy. Cure rates are better for children than for adults, for unclear reasons. This is one form of sarcoma that can travel to lymph nodes, though it can also travel to lungs and other sites.
Alternative diagnostic termsNone
Common anatomical locationsDeep tissue of the upper and lower extremities.
Pathology commentThe presence of either a PAX3-FOXO1 or a PAX7-FOXO1 fusion gene is detected in the majority of cases.
SourceCunha IW, Kohashi K, Bode-Lesniewska B. Alveolar rhabdomyosarcoma. In: WHO Classification of Tumors Editorial Board. Soft tissue and bone tumors [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [2024 Dec 29]. (WHO classification of tumors Series, 5th ed.; vol. 3). Available from: https://tumourclassification.iarc.who.int/login?redirecturl=%2Fchapters%2F33
For diagnosis or treatmentAny center listed in the Sarcoma Centers Directory »
Patient advocacyAny organization with an established program for patient triage, support, and education. See Patient Advocacy Directory »
Clinical trialsSARC Clinical Trials – NoneFind clinical trials worldwide »
Common anatomical locations40-50% of ERMS occur within the head and neck (orbit) region and 40-50% occur within the genitourinary system.
Pathology commentPrimitive round and spindle cell morphology with scattered differentiated rhabdomyoblasts; positivity for desmin and heterogeneous nuclear staining for myogenin and/or MYOD1. Lack of FOXO1 gene fusion distinguishes ERMS from ARMS. ERMS has an anaplastic subtype sarcoma botryoides is an antiquated diagnostic term.
SourceCunha IW, Rudzinski ER, Khan J. Embryonal rhabdomyosarcoma. In: WHO Classification of Tumors Editorial Board. Soft tissue and bone tumors [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [2024 Dec 29]. (WHO Classification of Tumors Series, 5th ed.; vol. 3). Available from: https://tumourclassification.iarc.who.int/login?redirecturl=%2Fchapters%2F33
For diagnosis or treatmentAny center listed in the Sarcoma Center Directory »
Diagnostic-specific organizations:Summer’s Way FoundationFocus on Rhabdo
Common anatomical locationsDeep soft tissues of the lower and upper extremity.
Pathology commentPleomorphic cells with copious brightly eosinophilic cytoplasm; immunolabelling for desmin and myogenin.
SourceCunha IW, Montgomery EA, Dry SM. Pleomorphic rhabdomyosarcoma. In: WHO Classification of Tumors Editorial Board. Soft tissue and bone tumors [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [2024 Dec 29]. (WHO Classification of Tumors Series, 5th ed.; vol. 3). Available from: https://tumourclassification.iarc.who.int/login?redirecturl=%2Fchapters%2F33
Alternative diagnostic termsSclerosing rhabdomyosarcoma
Subtypes (Recommended by WHO)Congenital spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements;intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements; andMYOD1-mutant spindle cell/sclerosing rhabdomyosarcoma.
Common anatomical locationsHead and neck region
Pathology commentCellular spindle cell fascicles or tumor cells in a variably sclerotic collagenous background; positivity for desmin, myogenin (focal), and MYOD1.
SourceCunha IW, Agaram NP, Szuhai K. Spindle cell / sclerosing rhabdomyosarcoma. In: WHO Classification of Tumors Editorial Board. Soft tissue and bone tumors [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [2024 Dec 29]. (WHO Classification of Tumors Series, 5th ed.; vol. 3). Available from: https://tumourclassification.iarc.who.int/login?redirecturl=%2Fchapters%2F33
Alternative diagnostic termsPediatric Rhabdoid Tumor of Soft Tissue
Common anatomical locationsMost often in deep, axial locations such as the neck, paraspinal region, perineal region, abdominal cavity or retroperitoneum, and pelvic cavity.
Pathology commentMainly affects infants and children. Morphologically and genetically identical tumors also arise in the kidney and brain. The majority of tumors are characterized by biallelic alterations of the SMARCB1 gene leading to loss of expression of SMARCB1 (INI1).
SourceFletcher CDM, Oda Y, Biegel JA, Pfister SM. Extrarenal rhabdoid tumor. In: WHO Classification of Tumors Editorial Board. Soft tissue and bone tumors [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [2024 Dec 29]. (WHO Classification of Tumors Series, 5th ed.; vol. 3). Available from: https://tumorclassification.iarc.who.int/chapters/33
Alternative diagnostic termsRhabdomyomaEctomesenchymoma
Common anatomical locationsPending
Pathology commentPending
SourcePending