Clinicopathological and molecular biological studies of RCCs based on WHO2016 classification

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K11162
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Urology
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: Nagashima Yoji 東京女子医科大学, 医学部, 教授 (10217995)
• Co-Investigator(Kenkyū-buntansha): 近藤 恒徳 東京女子医科大学, 医学部, 教授 (50301544) ; 加藤 生真 横浜市立大学, 医学部, 助教 (80644939)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 腎癌（腎細胞癌） / MiT転座型腎癌 / 透析関連腎癌 / フマル酸ヒドラターゼ欠損腎癌 / コハク酸脱水素酵素欠損腎癌 / 腎髄質癌

Outline of Final Research Achievements

We selected uncommon histological types (Mit-translocation type, dialysis-related or enzyme deficiency-associated) of renal cell carcinoma (RCC) in archval cases in our institute and consultation files, and analyzed clinicopathologically. We obtained the achievements, as follows; 1)MiT family translocation-associated RCC includes TFE3 translocation type. We identified that RBM10-TFE3 translocated cases are often associated with chroni kidney diseases. 2) We found the EWSR1 gene as a novel translocation partner of TFE3 gene. 3) We analyzed 10 patients with hereditary leiomyomatosis-RCC syndrome. Their RCC frequently showed positivity for PD-L1, which might present feasibility of immuno-oncological drugs as a therapeutic option. 4) Additionally, we report a very rare cases , i.e. mucinous tubular and spindle cell carcinoma, succnate dehydrogenase-deficient RCC, and medullary renal cell carcinoma with sickle cell trait. The medullary renal cell carcinoma is first report in Japan.

Free Research Field

人体病理学

Academic Significance and Societal Importance of the Research Achievements

腎癌の頻度は必ずしも高くないが、多数の新規組織型がある。MiT転座型腎癌、酵素欠損性腎癌、透析関連腎癌などである。WHOでは2016年に最新の分類を出版した。本研究では腎癌新規組織型を多数例を検討し、本邦での臨床病理学的性質や組織型特異的なバイオマーカー、治療標的を明らかにした。