title: SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification.
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.
authors.affiliation: Department of Pathology, CHU Sainte-Justine, 3175 Chemin de la Côte Sainte-Catherine, Montréal, Québec, Canada. dorothee.dal_soglio.hsj@ssss.gouv.qc.ca
authors.forename: Dorothée
authors.initials: D
authors.lastname: Bouron-Dal Soglio
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Rougemont
authors.forename: Riwa
authors.initials: R
authors.lastname: Absi
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barrette
authors.forename: Alexandre
authors.initials: A
authors.lastname: Montpetit
authors.forename: Raouf
authors.initials: R
authors.lastname: Fetni
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Fournet
mesh_terms: D000782:Aneuploidy; D002648:Child; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D020641:Polymorphism, Single Nucleotide; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*; D012208:Rhabdomyosarcoma / Q000235:genetics*
chemical_list: D025743:HMGA2 Protein; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2