MYOD1 as a prognostic indicator in rhabdomyosarcoma.
Document Type
Article
Publication Date
9-2021
Identifier
DOI: 10.1002/pbc.29085
Abstract
BACKGROUND/OBJECTIVES: Rhabdomyosarcoma (RMS) is characterized by the expression of the myogenic regulatory protein MYOD1. Histologic types include alveolar, embryonal (ERMS), and spindle cell sclerosing RMS (SRMS). SRMS harbors MYOD1 mutations in a subset of adult cases in association with poor prognosis.
DESIGN/METHODS: To study the level of MYOD1 protein expression and its clinical significance, we have analyzed variable numbers of pediatric (age) and adult (age range ≥18 to 35 years) ERMS and SRMS cases for presence or absence of MYOD1 immunoreactivity in correlation with clinical outcome and MYOD1 L122R mutations.
RESULTS: Lack of MYOD1 immunoreactivity, identified in 23.8% of nonalveolar RMS (non-ARMS) cases, was more prevalent in SRMS (44%) than ERMS (17.2%) and was significantly associated with low overall survival and unfavorable tumor sites (p < .05). Lack of MYOD1 immunoreactivity was not associated with MYOD1 L122R mutations, which were identified in 3/37 (8%) cases including only two of 31 (6.5%) pediatric cases, one of 11 or 9% pediatric SRMS, and one case of infant ERMS.
CONCLUSION: These studies highlight the prognostic role of MYOD1 in non-ARMS. Lack of MYOD1 immunoreactivity is associated with poor prognosis in ERMS and SRMS. MYOD1 gene mutations are generally infrequent in pediatric RMS. Although mutations are predominant in SRMS, they may exceptionally occur in infantile ERMS.
Journal Title
Pediatric blood & cancer
Volume
68
Issue
9
First Page
29085
Last Page
29085
Keywords
MYOD1; immunohistochemistry; rhabdomyosarcoma; spindle cell sclerosing
Recommended Citation
Ahmed AA, Habeebu S, Farooqi MS, et al. MYOD1 as a prognostic indicator in rhabdomyosarcoma. Pediatr Blood Cancer. 2021;68(9):e29085. doi:10.1002/pbc.29085
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