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Genetic characterization of unclassifiable small round cell sarcomas

Research Project

Project/Area Number 15K19065
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Human pathology
Research InstitutionNational Cancer Center Japan

Principal Investigator

YOSHIDA AKIHIKO  国立研究開発法人国立がん研究センター, 中央病院, 医員 (80574780)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords肉腫 / 分類 / 遺伝子変異 / 融合遺伝子 / 病理診断 / 小円形細胞肉腫 / バイオマーカー / 免疫組織化学 / RNAシーケンス / 疾病分類
Outline of Final Research Achievements

Small round cell sarcoma is a diagnostic category that encompasses a variety of sarcoma entities which share predominantly small round-shaped tumor cytology. Most small round cell sarcomas are readily classifiable; however, approximately 5-10% of tumors defy definitive classification based on the present nosologic scheme. These unclassifiable small round cell sarcomas are hypothesized to consist of multiple distinct entities, each of which should be recognized and treated by specific strategy. In this study, we first identified a number of unclassifiable small round cell sarcomas in our archive, and then analyzed them by using clinicopathological and molecular methods including next generation sequencing. We identified a relatively large series of novel entities such as CIC-rearranged sarcoma and SMARCA4-deficient thoracic sarcoma, and characterized them in detail to better understand these under-recognized malignancies.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (10 results)

All 2018 2017 2016 Other

All Int'l Joint Research (1 results) Journal Article (7 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 7 results,  Open Access: 2 results) Presentation (2 results) (of which Int'l Joint Research: 1 results)

  • [Int'l Joint Research] Instituto Valenciano de Oncologia(Spain)

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Minute Mesenchymal Chondrosarcoma within Osteochondroma: An Unexpected Diagnosis Confirmed by HEY1-NCOA2 Fusion2018

    • Author(s)
      Toki Shunichi、Motoi Toru、Miyake Mototaka、Kobayashi Eisuke、Kawai Akira、Yoshida Akihiko
    • Journal Title

      Human Pathology

      Volume: Epub ahead of print Pages: 255-260

    • DOI

      10.1016/j.humpath.2018.03.014

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] INSM1 expression and its diagnostic significance in extraskeletal myxoid chondrosarcoma.2018

    • Author(s)
      Yoshida A, Makise N, Wakai S, Kawai A, Hiraoka N.
    • Journal Title

      Mod Pathol.

      Volume: 印刷中 Issue: 5 Pages: 744-752

    • DOI

      10.1038/modpathol.2017.189

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, "undifferentiated small round cell tumors". A clinicopathologic, immunophenotypic and molecular analysis.2017

    • Author(s)
      Machado I, Yoshida A, Morales MGN, Abrahao-Machado LF, Navarro S, Cruz J, Lavernia J, Parafioriti A, Picci P, Llombart-Bosch A.
    • Journal Title

      Ann Diagn Pathol.

      Volume: 34 Pages: 1-12

    • DOI

      10.1016/j.anndiagpath.2017.11.011

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Immunohistochemical analysis of NKX2.2, ETV4, and BCOR in a large series of genetically confirmed Ewing sarcoma family of tumors.2017

    • Author(s)
      Machado I, Yoshida A, Lopez-Guerrero JA, Nieto MG, Navarro S, Picci P, Llombart-Bosch A.
    • Journal Title

      Pathol Res Pract.

      Volume: 213 Issue: 9 Pages: 1048-1053

    • DOI

      10.1016/j.prp.2017.08.002

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] CIC Break-Apart Fluorescence In Situ Hybridization Misses a Subset of CIC-DUX4 Sarcomas: A Clinicopathological and Molecular Study2017

    • Author(s)
      Yoshida A, Arai Y, Kobayashi E, Yonemori K, Ogura K, Hama N, Mukai W, Motoi T, Kawai A, Shibata T, N Hiraoka
    • Journal Title

      Histopathology

      Volume: 印刷中 Issue: 3 Pages: 461-469

    • DOI

      10.1111/his.13252

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Clinicopathological and molecular characterization of SMARCA4-deficient thoracic2017

    • Author(s)
      Yoshida A, Kobayashi E, Kubo T, Kodaira M, Motoi T, Motoi N, Yonemori K, Ohe
    • Journal Title

      Modern Pathology

      Volume: 印刷中 Issue: 6 Pages: 797-809

    • DOI

      10.1038/modpathol.2017.11

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] CIC-rearranged Sarcomas: A Study of 20 Cases and Comparisons With Ewing Sarcomas2016

    • Author(s)
      Yoshida A, Goto K, Kodaira M, Kobayashi E, Kawamoto H, Mori T, Yoshimoto S, Endo O, Kodama N, Kushima R, Hiraoka N, Motoi T, Kawai A.
    • Journal Title

      Am J Surg Pathol.

      Volume: 40 Issue: 3 Pages: 313-23

    • DOI

      10.1097/pas.0000000000000570

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] SMARCA4欠損型胸部肉腫12例の臨床病理学的・遺伝子的解析2017

    • Author(s)
      吉田朗彦、小林英介、久保崇、元井亨、元井紀子、川井章、河野隆志、岸本宏志、市川仁、平岡伸介
    • Organizer
      第106回日本病理学会総会
    • Place of Presentation
      京王プラザホテル(東京都、新宿区)
    • Year and Date
      2017-04-29
    • Related Report
      2016 Research-status Report
  • [Presentation] Clinicopathological and Molecular Characterization of SMARCA4-Deficient Thoracic Sarcomas with Comparisons to Potentially Related Disease Entities2017

    • Author(s)
      Akihiko Yoshida, Eisuke Kobayashi, Takashi Kubo, Toru Motoi, Noriko Motoi, Akira Kawai, Takashi Kohno, Hiroshi Kishimoto, Hitoshi Ichikawa, Nobuyoshi Hiraoka
    • Organizer
      United States & Canadian Academy of Pathology’s 106th Annual Meeting
    • Place of Presentation
      San Antonio, TX, USA
    • Year and Date
      2017-03-07
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research

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Published: 2015-04-16   Modified: 2019-03-29  

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