학술논문
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification.
Document Type
Academic Journal
Author
Bouron-Dal Soglio D; Department of Pathology, CHU Sainte-Justine, 3175 Chemin de la Côte Sainte-Catherine, Montréal, Québec, Canada. dorothee.dal_soglio.hsj@ssss.gouv.qc.ca; Rougemont AL; Absi R; Barrette S; Montpetit A; Fetni R; Fournet JC
Source
Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE
Subject
Language
English
Abstract
Since the first description of sclerosing rhabdomyosarcoma in 2000, 19 pediatric cases have been reported in the literature. However, it is debated whether sclerosing rhabdomyosarcoma represents a specific rhabdomyosarcoma entity or a variant of embryonal or alveolar rhabdomyosarcoma. To date, 6 sclerosing rhabdomyosarcoma karyotypes and 1 sclerosing rhabdomyosarcoma comparative genomic hybridization profile have been reported. We present the first whole-genome tumoral genotyping of a sclerosing rhabdomyosarcoma by high-density single nucleotide polymorphism array. The single nucleotide polymorphism genotyping revealed a complex pattern including gains and losses of whole chromosomes and an amplification of the 12q13-15 region. Amplification of the 12q13-q15 region containing SAS, GLI, CDK4, and MDM2 has been observed in rhabdomyosarcoma. In the present case, the 2 amplified target genes were MDM2 and HMGA2, excluding CDK4. The identification of a specific MDM2-HGMA2 amplicon excluding CDK4 has only been described so far in well-differentiated and dedifferentiated liposarcoma. Further studies are needed to assess if this anomaly is a specific marker of sclerosing rhabdomyosarcoma.