rhabdomyosarcoma (Sarcoma Botryoides)
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Classification
- embryonal rhabdomyosarcoma
- alveolar rhabdomyosarcoma
- botryoid rhabdomyosarcoma
- spindle cell rhabdomyosarcoma
- 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]
Immunophenotype
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
- 9 cycles of high-dose chemotherapy
- 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
More general terms
More specific terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/268210
- ↑ 2.0 2.1 2.2 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. - ↑ 3.0 3.1 3.2 Castellino AM After 30 Years, a 'Home Run' for Treating Rhabdomyosarcoma? Medscape - Jun 04, 2018. https://www.medscape.com/viewarticle/897580
- ↑ Childhood Rhabdomyosarcoma (PDQ): Treatment http://www.nci.nih.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional
Patient information
rhabdomyosarcoma patient information