Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss

Arivarasan Karunamurthy, Lori Hoffner, Jie Hu, Peter Shaw, Sarangarajan Ranganathan, Svetlana A. Yatsenko, Urvashi Surti

Research output: Contribution to journalArticlepeer-review

Abstract

Rhabdomyosarcomas (RMS) are rare, heterogeneous, soft tissue sarcomas and a common type of childhood malignancy with a distinct histomorphology. At the molecular level, alveolar rhabdomyosarcoma (ARMS), a subtype of RMS, harbors a signature genetic makeup characterized by specific translocations. The type of translocation and associated genetic aberrations correlate with disease progression, hence we used multiple molecular modalities including high-resolution array comparative genomic hybridization to explore the oncogenic gene fusion and associated copy number variations in a case of metastatic ARMS. We describe a case where traditional cytogenetic and molecular methods yielded inconclusive results in detecting the FOXO1 gene rearrangement. However, microarray analysis identified the essential FOXO1-PAX7 aberration and additional submicroscopic genomic alterations, including amplification of MYCN and MDM2 and deletion of RB1.

Original languageEnglish (US)
Pages (from-to)253-261
Number of pages9
JournalCytogenetic and Genome Research
Volume150
Issue number3-4
DOIs
StatePublished - Mar 1 2017
Externally publishedYes

Keywords

  • Copy number alterations • Fluorescence in situ hybridization • Gene fusion • Translocation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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