Analyses for novel translocation and clonal evolution of pediatric rhabdomyosarcoma using advanced genomics

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461566
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: The University of Tokyo
• Principal Investigator: Nishimura Riki 東京大学, 医学部附属病院, 助教 (10463861)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 横紋筋肉腫 / 次世代シークエンサー / RNAシークエンス

Outline of Final Research Achievements

RNA sequencing was performed for 8 samples including 5 embryonal rhabdomyosarcoma (ERMS) and 3 alveolar rhabdomyosarcoma (ARMS). A total of 22 fusion transcripts were detected using RNA sequencing, including 3 in-frame and 19 out-of-frame fusions, in which 2 in-frame and 10 out-of-frame fusions were confirmed by RT-PCR. Both 2 in-frame fusions were known PAX3-FOXO1 fusion, therefore, no novel translocation was found in fusion-negative ARMS and ERMS in this study. Despite out-of-frame translocation, NSD1-ZNF346 fusion detected in one ERMS sample had been previously found in a cell line of ERMS.

Free Research Field

小児腫瘍