Establishment of new entities in central nervous system rhabdoid tumors

• Project/Area Number: 25430047
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: Gunma University
• Principal Investigator: Hirato Junko 群馬大学, 医学部附属病院, 准教授 (60208832)
• Co-Investigator(Kenkyū-buntansha): NOBUSAWA Sumihito 群馬大学, 医学系研究科, 助教 (80635318) ; 宮永 朋実 群馬大学, 医学部附属病院, 助教 (30455951)
• Co-Investigator(Renkei-kenkyūsha): MIYANAGA Tomomi 群馬大学, 医学部附属病院, 助教 (30455951)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 中枢神経系ラブドイド腫瘍 / INI1 / 混合型ラブドイド腫瘍 / 二次性非定型奇形腫様ラブドイド腫瘍 / 上皮様/ラブドイド膠芽腫 / array CGH / INI1,BRG1陽性胎児性腫瘍 / SWI/SNF complex / INI1, BRG1陽性胎児性腫瘍 / SMARCA2 / PBRM1 / 神経上皮性腫瘍 / ラブドイド細胞 / 非定型奇形腫様ラブドイド腫瘍 / epithelioid glioblastoma / epithelioid cell / BRAF / LSAMP

Outline of Final Research Achievements

There are several types of neuroepithelial tumors with rhabdoid cell components in the central nervous system. In these tumors atypical teratoid/rhabdoid tumor is an established tumor entity, but the classification of the others has not been performed appropriately. In the present study we analyzed several representative cases with rhabdoid tumors about the histopathological features and molecular genetic abnormalities using array CGH, DNA sequencing and FISH method. We verified that AT/RT arose from ependymoma, and found a novel specific gene alteration of epithelioid glioblastoma. These novel findings contributed to establish new entities like secondary AT/RT and epithelioid glioblastoma.

Research Products

• [Journal Article] Atypical teratoid/rhabdoid tumor (AT/RT) arising from ependymoma: a type of AT/RT secondarily developing from other primary central ｎervous system tumors. (2016)
  • Author(s): Sumihito Nobusawa, Junko Hirato, Tsutomu Sugai, Naoki Okura,Tatsuya Yamazaki, Seiji Yamada, Hayato Ikota, Yoichi Nakazato, Hideaki Yokoo
  • Journal Title: Journal of Neuropathology and Experimental Neurology Volume: 0 Issue: 2 Pages: 1-8
  • DOI: 10.1093/jnen/nlv017
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 小児脳腫瘍の病理 (2014)
  • Author(s): 平戸 純子
  • Journal Title: The Japanese Journal of Pediatric Hematology/Oncology Volume: 51 Pages: 344-351
  • Peer Reviewed
• [Journal Article] 胎児性脳腫瘍の鑑別病理診断 (2014)
  • Author(s): 平戸 純子
  • Journal Title: Neuro-Oncologyの進歩 Volume: 21 Pages: 1-21
  • NAID: 130004648366
  • Open Access
• [Journal Article] Intratumoral heterogeneity of genomic imbalance in a case of epithelioid glioblastoma with BRAF V600E mutation. (2014)
  • Author(s): Nobusawa S, Hirato J, Kurihara H, Ogawa A, Okura N, Nagaishi M, Ikota H, Yokoo H, Nakazato Y.
  • Journal Title: Brain Pathol Volume: 24 Issue: 3 Pages: 239-246
  • DOI: 10.1111/bpa.12114
  • Peer Reviewed
• [Presentation] Clinicopathological features of atypical teratoid/rhabdoid tumor-like embryonal tumors with retained INI1 and BRG1 sxpression. (2016)
  • Author(s): Junko Hirato, Sumihito Nobusawa, Hiroshi Kishimoto, Kensuke Oikawa, Mie Takakuwa
  • Organizer: 21st international conference on brain tumor research and therapy
  • Place of Presentation: Okinawa
  • Year and Date: 2016-04-12
  • Int'l Joint Research
• [Presentation] Atypical teratoid/rhabdoid tumor (AT/RT) arising from ependymoma: a type of secondary AT/RT. (2016)
  • Author(s): Sumihito Nobusawa, Junko Hirato, Tsutomu Sugai, Yoichi Nakazato, Hideaki Yokoo
  • Organizer: 21st international conference on brain tumor research and therapy
  • Place of Presentation: Okinawa
  • Year and Date: 2016-04-12
  • Int'l Joint Research
• [Presentation] AT/RT arising from ependymoma: a type of AT/RT decodarily developed from other primary CNS tumors (2015)
  • Author(s): 信澤純人、平戸純子、菅井努、横尾英明
  • Organizer: 日本脳腫瘍病理学会
  • Place of Presentation: 高松市
  • Year and Date: 2015-05-30
• [Presentation] 部分的にepithelioid cellを伴うBRAF V600E変異陽性のanaplastic gangliogliomaの一例
  • Author(s): 児玉千明、信澤純人、鈴木文、伊古田勇人、平戸純子、横尾英明
  • Organizer: 第103回日本病理学会総会
  • Place of Presentation: 広島