| Project/Area Number |
15K08374
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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 | Chiba University |
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Principal Investigator |
NAKATANI Yukio 千葉大学, 大学院医学研究院, 教授 (20137037)
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| Co-Investigator(Kenkyū-buntansha) |
古屋 充子 横浜市立大学, 医学部, 准教授 (10361445)
矢澤 卓也 獨協医科大学, 医学部, 教授 (50251054)
太田 聡 千葉大学, 医学部附属病院, 准教授 (90324342)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | バート・ホッグ・デュベ症候群 / フォリキュリン / 腎癌 / 肺癌 / 遺伝子解析 / 疫学 / 肺嚢胞 / 腎腫瘍 / 肺腫瘍 / 甲状腺癌 / バートホッグデュベ症候群 / folliculin / 気胸 / 線維性毛包腫 / 甲状腺腫瘍 / 遺伝子変異 / 異型腺腫様過形成 / 微小結節性肺胞上皮過形成 |
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| Outline of Final Research Achievements |
Genetic, epidemiological and clinicopathological analyses were performed on 185 probands who were confirmed as BHD syndrome by genetic tests and their sibs with BHD syndrome-associated lesions, together forming the cohort of 477 subjects. As a result, Forty-five different mutation patterns were detected in FLCN. These included 3 cases of very rare small deletions of exons. Renal carcinomas developed in 35% of patients who were over 40 years old. Lung cancers, colon cancers and thyroid cancers occurred around 3% of patients. Adenocarcinoma, atypical adenomatous hyperplasia and multifocal micronodular pneumocyte hyperplasia-like lesion were seen as lung neoplasms; they commonly showed LOH of FLCN and invasive adenocarcinomas commonly showed mutations of EGFR and KRAS as well. Thyroid carcinoma and parotid adenoma resembled chromophobe renal cell carcinoma morphologically and harbored LOH of FLCN, suggesting a role of FLCN gene abnormalities in the tumorigenesis of these neoplasms.
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