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Mutation of cancer predisposition genes in children with secondary neoplasms

Research Project

Project/Area Number 16K15533
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Kato Motohiro  国立研究開発法人国立成育医療研究センター, 小児血液・腫瘍研究部, 医長 (40708690)

Co-Investigator(Renkei-kenkyūsha) Yoshida Masanori  国立成育医療研究センター, 小児血液・腫瘍研究部, 臨床研究員
Shirai Ryota  国立成育医療研究センター, 小児血液・腫瘍研究部, 臨床研究員
Osumi Tomoo  国立成育医療研究センター, 小児血液・腫瘍研究部, 臨床研究員
Project Period (FY) 2016-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords癌
Outline of Final Research Achievements

Secondary malignant neoplasms (SMNs) are one of the most important late complication in the treatment of pediatric malignancies. Recently, higher prevalence of germline mutation in cancer-predisposition genes in children with SMNs compared to that in non-cancer population have been reported.
Here, we investigated the frequency of genetic mutation in 162 cancer-predisposition genes in 27 cases who suffered SMNs with whole exome sequencing. Germline variants were detected in 5 of the 27 (18.2%) cases with SMNs, and the frequency was higher than that of control cohorts (3 of 104 cases [2.8%]).
Germline cancer predisposition affects susceptibility to SMNs in cases with pediatric cancer.

Report

(3 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • Research Products

    (4 results)

All 2018 2017 Other

All Int'l Joint Research (1 results) Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (1 results) (of which Int'l Joint Research: 1 results)

  • [Int'l Joint Research] St. Jude小児病院(米国)

    • Related Report
      2016 Research-status Report
  • [Journal Article] Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality2018

    • Author(s)
      Osumi Tomoo、Tsujimoto Shin-ichi、Nakabayashi Kazuhiko、Taniguchi Maki、Shirai Ryota、Yoshida Masanori、Uchiyama Toru、Nagasawa Junko、Goyama Susumu、Yoshioka Takako、Tomizawa Daisuke、Kurokawa Mineo、Matsubara Yoichi、Kiyokawa Nobutaka、Matsumoto Kimikazu、Hata Kenichiro、Kato Motohiro
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 65 Issue: 6

    • DOI

      10.1002/pbc.26959

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia2017

    • Author(s)
      Hirabayashi Shinsuke、Seki Masafumi、Hasegawa Daisuke、Kato Motohiro、Hyakuna Nobuyuki、Shuo Takuya、Kimura Shunsuke、Yoshida Kenichi、Kataoka Keisuke、Fujii Yoichi、Shiraishi Yuichi、Chiba Kenichi、Tanaka Hiroko、Kiyokawa Nobutaka、Miyano Satoru、Ogawa Seishi、Takita Junko、Manabe Atsushi
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 64 Issue: 12

    • DOI

      10.1002/pbc.26647

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Germline Genetic Predisposition to Secondary Malignant Neoplasms in Children2018

    • Author(s)
      Yoshida Masanori, and Kato Motohiro et al.
    • Organizer
      The 50th congress of the International Society of Pediatric Oncology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research

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Published: 2016-04-21   Modified: 2019-03-29  

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