SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification

Hum Pathol. 2009 Sep;40(9):1347-52. doi: 10.1016/j.humpath.2009.01.021. Epub 2009 May 19.

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.

Publication types

  • Case Reports

MeSH terms

  • Aneuploidy*
  • Child
  • HMGA2 Protein / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Nucleic Acid Amplification Techniques
  • Polymorphism, Single Nucleotide*
  • Proto-Oncogene Proteins c-mdm2 / genetics*
  • Rhabdomyosarcoma / genetics*

Substances

  • HMGA2 Protein
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2