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rhabdomyosarcoma (Sarcoma Botryoides)

Classification: 1) embryonal rhabdomyosarcoma 2) alveolar rhabdomyosarcoma 3) botryoid rhabdomyosarcoma 4) spindle cell rhabdomyosarcoma 5) pleomorphic rhabdomyosarcoma Epidemiology: - most common soft tissue sarcoma in childhood, - 5-8% of all malignancies in children - embryonal & alveolar types occur mainly in children, usually before age 10, peak age ~4 yrs., male predominance. - most common site is head & neck region (also orbit & meninges) followed by genitourinary system, limbs & trunk. - tumors affecting limbs more commonly alveolar type. - pleomorphic type occurs almost exclusively in adults. - adult cases account for ~10% of cases; most involve limbs. Pathology: - may arise from non-myogenic endothelial cell progenitors [2] - hedgehog pathway activation results in aberrant expression of myogenic specification factors [2] Immunohistochemistry: - desmin: + - muscle specific actin: + - myogenin: + - MyoD1: + Genetics: - type 1 associated with defects in SLC22A18 - may be associated with defects in STIM1 gene - chromosomal translocation t(2;13)(q35;q14) involving PAX3 with FOXO1 is a cause of rhabdomyosarcoma 2 - chromosomal translocation t(2;2)(q35;p23) involving PAX3 with NCOA1 is a cause of rhabdomyosarcoma; translocation generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 & the C-terminus part of NCOA1; the fusion protein acts as a transcriptional activator - other implicated genes RTDR1, OS9, FEM1A, TRPM5 Management: - neoadjuvant chemotherapy [3] - 9 cycles of high-dose chemotherapy - ifosfamide, vincristine, and actinomycin D with or without doxorubicin - followed by radiotherapy & surgery - maintenance chemotherapy after standard chemotherapy - vinorelbine 25 mg/m2 IV on day 1, 8, & 15 every 28 days - daily oral cyclophosphamide 25 mg/m2 - 6 cycles of maintenance therapy [3] - 5 year survival 86% for maintenance therapy vs 74% without

Interactions

disease interactions

Related

bromodomain-containing protein 9; rhabdomyosarcoma antigen MU-RMS-40.8 (BRD9) rhabdoid tumor

Specific

alveolar rhabdomyosarcoma (rhabdomyosarcoma-2) embryonal rhabdomyosarcoma

General

skeletal muscle neoplasm soft tissue sarcoma (STS)

Database Correlations

OMIM 268210

References

  1. OMIM :accession 268210
  2. Nelson R Rhabdomyosarcoma Not a 'Muscle' Cancer After All Medscape - Jan 15, 2018. https://www.medscape.com/viewarticle/891309 - Drummond CJ, Hanna JA, Garcia MR et al Hedgehog Pathway Drives Fusion-Negative Rhabdomyosarcoma Initiated From Non-myogenic Endothelial Progenitors. Cancer Cell. Jan 8, 2018. 33(1):108-124e5.
  3. Castellino AM After 30 Years, a 'Home Run' for Treating Rhabdomyosarcoma? Medscape - Jun 04, 2018. https://www.medscape.com/viewarticle/897580
  4. Childhood Rhabdomyosarcoma (PDQ): Treatment http://www.nci.nih.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional