2019 Fiscal Year Final Research Report
Clinicopathological investigation of FLCN dysfunction and renal disorders using the immortalized cells derived from BHD-associated renal tumors.
| Project/Area Number |
17K08745
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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 | Yokohama City University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
田中 玲子 千葉大学, 真菌医学研究センター, 助教 (60143319)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | Birt-Hogg-Dube (BHD) 症候群 / FLCN / 遺伝性腫瘍 / 腎細胞癌 |
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| Outline of Final Research Achievements |
We performed clinicopathological analysis of 224 Japanese families with Birt-Hogg-Dube syndrome (BHD).
We found 10 kidney cancer families whose probands had extremely poor prognoses. They had characteristic histopathological features such as Type 2 papillary, tubulocystic and FH deficiency. They were diagnosed with Hereditary leiomyomatosis and renal cell cancer. All tumors had loss of heterozygosity of FH.
We also found 10 RBM10-TFE3 kidney cancer cases. They were positive for TFE3 but had equivocal split by dual color FISH. 10 cases included chronic renal failure-associated cancers and bilateral cancers. Further analysis is needed to clarify carcinogenesis mechanisms.
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| Free Research Field |
人体病理学
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| Academic Significance and Societal Importance of the Research Achievements |
希少腎癌は多数例での分子病理学的解析が困難であり, これまで中々実現しなかったが, 本研究は専門医らの協力によって豊富な症例数を集約し, 独自性の高い研究を行い, 希少がん診断や治療に貢献できる研究成果として発信できた. ここ1,2年本邦においてがんパネル検査が保険診療で開始されたが,遺伝性腫瘍の殆どは二次的所見があっても患者さんに伝えることが許可されず, 保険診療では情報を十分に生かせない状態が今後も続くと予想される. 我々の研究成果は患者家族の診療に反映していかねばならない重要な知見であり, 日常診療で遭遇する「特殊な組織型」を呈する疾患にも有用な情報を提供すると見込まれる.
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