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Genetic mutation and their clinicopathological significance in salivary gland adenoid cystic carcinoma

Research Project

Project/Area Number 17K15647
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Human pathology
Research InstitutionNagoya City University

Principal Investigator

Tsuda Kana  名古屋市立大学, 医薬学総合研究院(医学), 助教 (60790756)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords唾液腺悪性腫瘍 / 唾液腺腺様嚢胞癌 / FISH法 / 唾液腺腫瘍 / 遺伝子異常 / MYB / MYBL1 / NFIB / EGFR経路 / 病理学 / 遺伝子学 / トランスレーショナルリサーチ
Outline of Final Research Achievements

Adenoid cystic carcinoma (AdCC) is one of the most common salivary gland malignancies. AdCC patients show a variable clinical course, but the long-term prognosis is poor. We showed that in AdCC cases, MYC protein overexpression correlated with the present of MYB-NFIB fusion gene and could be a risk factor for distant metastases and tumor recurrence. Therefore, we examined the amplification of MYC gene by FISH in AdCC cases with MYC protein overexpression, but no significant correlation was observed.
We also collected about 200 AdCCs in multi-institutional joint research. We performed a next-generation sequencer analysis in salivary duct carcinomas (SDCs), which many gene mutations have been reported. As a preliminary study before performing a comprehensive analysis of AdCCs, we examined SDC cases using a next-generation sequencer. As a result, gene mutations such as ERBB4, NPM1, TP53, and RET were found in 20 to 30% of SDC cases.

Academic Significance and Societal Importance of the Research Achievements

唾液腺悪性腫瘍は比較的稀な疾患であり、多彩な病理像を示すため、病理診断においても苦慮する症例が多く存在する。発生頻度は稀であるが、予後不良である悪性腫瘍も多い。その中で最も代表的な組織型の一つである唾液腺腺様嚢胞癌(AdCC)は診断に苦慮するのみならず、明確な治療法も確立されていない。本研究によってAdCCを含めた唾液腺悪性腫瘍における臨床病理学的意義や新たな治療法の確立につながる可能性も考えられる。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (7 results)

All 2018 2017

All Journal Article (4 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 4 results,  Open Access: 4 results) Presentation (3 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Mutation analysis of the EGFR pathway genes, EGFR, RAS, PIK3CA, BRAF, and AKT1, in salivary gland adenoid cystic carcinoma.2018

    • Author(s)
      Saida K, Murase T, Ito M, Fujii K, Takino H, Masaki A, Kawakita D, Ijichi K, Tada Y, Kusafuka K,Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y
    • Journal Title

      Oncotarget

      Volume: 9 Issue: 24 Pages: 17043-17055

    • DOI

      10.18632/oncotarget.24818

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Expression of Cancer-Testis Antigens in Salivary Gland Carcinomas with Reference to MAGE-A and NY-ESO-1 Expression in Adenoid Cystic Carcinoma.2017

    • Author(s)
      Beppu S, Ito Y, Fujii K, Saida K, Takino T, Masaki A, Murase T, Kusafuka K, Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y, Ijichi K, Murakami S, Inagaki H.
    • Journal Title

      Histopathology.

      Volume: 印刷中 Issue: 2 Pages: 305-315

    • DOI

      10.1111/his.13226

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Striated duct adenoma presenting with intra-tumoral hematoma and papillary thyroid carcinoma-like histology.2017

    • Author(s)
      Ito Y, Fujii K, Murase T, Saida K, Okumura Y, Takino H, Masaki A, Beppu S, Kawakita D, Ijichi K, Inagaki H.
    • Journal Title

      Pathology International

      Volume: 印刷中 Issue: 6 Pages: 316-321

    • DOI

      10.1111/pin.12534

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] MYB, MYBL1, MYBL2 and NFIB gene alterations and MYC overexpression in salivary gland adenoid cystic carcinoma.2017

    • Author(s)
      Fujii K, Murase T, Beppu S, Saida K, Takino H, Masaki A, Ijichi K, Kusafuka K, Iida Y, Onitsuka T, Yatabe Y, Hanai N, Hasegawa Y
    • Journal Title

      Histopathology

      Volume: 7 Issue: 5 Pages: 823-834

    • DOI

      10.1111/his.13281

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] 唾液腺腺様嚢胞癌におけるMYB、MYBL1、MYBL2、NFIBのFISH解析による検討2017

    • Author(s)
      藤井 (津田) 香那、別府慎太郎、齋田昂佑、滝野寿、正木彩子、村瀬貴幸、伊地知圭、草深公秀、
    • Organizer
      第61回日本唾液腺学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] Adenoid cystic carcinoma of the salivary glands: MYB, MYBL1, and NFIB fusions and clinical characteristics2017

    • Author(s)
      Kana Fujii (Tsuda), Shintaro Beppu, Kosuke Saida, Hisashi Takino, Ayako Masaki, Takayuki Murase,
    • Organizer
      5th Congress of Asian Society of Head and Neck Oncology
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] 唾液腺腺様嚢胞癌におけるMYB/MYBL1遺伝子異常とMYC 蛋白発現2017

    • Author(s)
      藤井 (津田) 香那、村瀬貴幸、齋田昂佑、坂本祐真、榊原健夫、滝野寿、正木彩子、稲垣宏
    • Organizer
      第106回日本病理学会総会
    • Related Report
      2017 Research-status Report

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Published: 2017-04-28   Modified: 2021-02-19  

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