NTRK fusion‐positive colorectal cancer in Japanese population
NTRK fusion‐positive colorectal cancer in Japanese population
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日本人群中 NTRK 融合阳性结直肠癌
DOI：
10.1111/pin.13082
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发表时间：
2021
影响因子：
2.2
通讯作者：
Sekine Shigeki
中科院分区：
文献类型：
--
作者：
Yonemaru Junpei;Hashimoto Taiki;Takayanagi Daisuke;Naka Tomoaki;Yatabe Yasushi;Kanemitsu Yukihide;Shiraishi Kouya;Sekine Shigeki
ALK、ROS 1和NTRK融合蛋白参与多种器官的肿瘤发生，包括结直肠癌。本研究旨在阐明这些融合在日本人群结直肠癌中的患病率。1012例结直肠癌标本的免疫组化分析显示2例NTRK阳性病例（0.2%），而未发现ALK或ROS 1阳性病例。逆转录聚合酶链反应（RT-PCR）检测到一例腺鳞癌中的LMNA-NTRK 1融合和一例管状腺癌中的aTPM 3-NTRK 1融合。两例NTRK 1融合阳性病例均缺乏KRA和BRAF激活突变，并且存在错配修复缺陷，MLH 1和PMS 2表达缺失以及MLH 1启动子甲基化。我们的研究结果表明，受体酪氨酸激酶融合是罕见的，但存在于日本患者的结直肠癌，与其他国家报道的患病率相似。
ALK, ROS1andNTRKfusions are involved in the tumorigenesis of various organs, including colorectal cancer. This study aims to clarify the prevalence of these fusions in colorectal cancer in the Japanese population. Immunohistochemical analysis of 1012 specimens of colorectal cancer revealed two NTRK‐positive cases (0.2%) whereas no ALK‐ or ROS1‐positive cases were identified. Reverse transcription polymerase chain reaction (RT‐PCR) detected anLMNA‐NTRK1fusion in a case of adenosquamous carcinoma and aTPM3‐NTRK1fusion in a case of tubular adenocarcinoma. BothNTRK1fusion‐positive cases lacked activating mutations inKRASandBRAFand were mismatch repair‐deficient with loss of MLH1 and PMS2 expression andMLH1promoter methylation. Our results show that receptor tyrosine kinase fusions are rare but present in colorectal cancers in Japanese patients, with a prevalence similar to that reported in other countries.
DOI：
10.1097/pas.0000000000000911
发表时间：
2017-11
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Hechtman JF;Benayed R;Hyman DM;Drilon A;Zehir A;Frosina D;Arcila ME;Dogan S;Klimstra DS;Ladanyi M;Jungbluth AA
通讯作者：
Jungbluth AA
影响因子：
16.6
作者：
Katayama, Ryohei;Gong, Bo;Isoyama, Takeshi
通讯作者：
Isoyama, Takeshi