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

• 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)
• Co-Investigator(Kenkyū-buntansha): 滝田 順子 東京大学, 医学部附属病院, 准教授 (00359621)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 横紋筋肉腫 / 次世代シークエンサー / RNAシークエンス / 次世代シーケンサー

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.

Research Products

• [Journal Article] Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma. (2015)
  • Author(s): Seki M, Nishimura R, Yoshida K, Shimamura T, Shiraishi Y, Sato Y, Kato M, Chiba K, Tanaka H, Hoshino N, Nagae G, Shiozawa Y, Okuno Y, Hosoi H, Tanaka Y, Okita H, Miyachi M, Souzaki R, Taguchi T, Koh K, Hanada R, Kato K, Nomura Y, Akiyama M, Oka A, Igarashi T, Miyano S, Aburatani H, Hayashi Y, Ogawa S, Takita J.
  • Journal Title: Nat Commun. Volume: 6 Issue: 1 Pages: 7557-7557
  • DOI: 10.1038/ncomms8557
  • NAID: 120005623266
  • Peer Reviewed / Open Access
• [Presentation] 次世代シーケンサを用いた横紋筋肉腫の遺伝子変異全体図 (2014)
  • Author(s): 西村 力、吉田 健一、白石 友一、関 正史、真田 昌、岡 明、林 泰秀、宮野 悟、小川 誠司、滝田 順子
  • Organizer: 第117回日本小児科学会
  • Place of Presentation: 名古屋
  • Year and Date: 2014-04-11 – 2014-04-13