| Project/Area Number |
17K08750
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Human pathology
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| Research Institution | St. Luke's International University (2019)
Kawasaki Medical School (2017-2018) |
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Principal Investigator |
KANOMATA Naoki 聖路加国際大学, 聖路加国際病院, 医長 (60263373)
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| Co-Investigator(Kenkyū-buntansha) |
赤羽 俊章 鹿児島大学, 医歯学総合研究科, 特任研究員 (70754480)
山下 哲正 川崎医科大学, 医学部, 助教 (00584939)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | NGS / 遺伝子変異 / 転移・再発 / 乳癌 / 薬剤到達性 / DNA品質 / 転移 / 再発 / 付加的遺伝子変異 / CNV / コピー数変化 / 病理学 / 遺伝子 / 乳腺 |
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| Outline of Final Research Achievements |
The QIAseq Human Breast Cancer Panel NGS assay could identify driver mutations in both primary breast tumour tissue and recurrent/metastatic lesions in almost all patients. Actionable mutations and/or copy number variations (CNVs) were detected in 82% (9/11) of recurrent/metastatic breast cancer cases. This method can cost-effectively assist in identifying drug-targetable mutation and CNV in metastatic breast cancers.
We also showed that the older formalin-fixed paraffin-embedded (FFPE) materials often had lower DNA quality and could not be analyzed.
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| Academic Significance and Societal Importance of the Research Achievements |
転移・再発乳癌の遺伝子変異を検出し，これを標的とする治療法に結び付けるための研究を行った．入手が容易で，比較的安価な遺伝子パネルでも82%の症例で，薬剤到達性のある遺伝子変異を検出できた．45%の症例では転移・再発巣で新たな遺伝子変異が検出され，(原発巣だけでなく)転移・再発での遺伝子検索の重要性が示唆された．また，本研究ではホルマリン固定パラフィン包埋ブロックのDNA品質が経年変化を受けることも明らかとなった．今後，手術等で得られた病理検体の保管を考慮する上で，有用な情報が得られた．
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