林奇综合征日本患者的胆道癌临床特征
Clinical features of biliary tract cancer in Japanese individuals with Lynch syndrome.
作者信息
Kanaya Nobuhiko, Aoki Hideki, Morito Toshiaki, Taniguchi Fumitaka, Shigeyasu Kunitoshi, Tamura Chieko, Sugano Kokichi, Akagi Kiwamu, Ishida Hideyuki, Tanakaya Kohji
机构信息
Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan.
Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
出版信息
J Gastrointest Oncol. 2022 Oct;13(5):2532-2538. doi: 10.21037/jgo-22-165.
BACKGROUND
Biliary tract cancer (BTC) is a Lynch syndrome (LS)-associated cancer with a high mortality rate. This study aimed to clarify the clinical features of BTC in individuals with LS and to discuss its management.
METHODS
We obtained data from genetically verified Japanese individuals with LS who were diagnosed at a single institution, between January 2003 and April 2021. Moreover, 21 individuals with sporadic BTC (n=15) and LS associated BTC (n=6) underwent microsatellite instability (MSI) testing.
RESULTS
Among 92 individuals with LS, 6 individuals with variants developed BTCs (10 lesions, male/female, 2:1). The median age at diagnosis of initial BTC was 69 years (range, 34-78 years). Histological examination revealed a predominance of differentiated adenocarcinoma (89%). Then, 2 individuals had multiple BTCs. All available 7 BTC lesions showed high-frequency of microsatellite instability (MSI-H). carriers showed a 7.2% cumulative risk of BTC development at an age of 70 years. Five of the six individuals died of BTC.
CONCLUSIONS
MSI analysis could facilitate LS identification in individuals with BTC. Surveillance for BTC should be considered for carriers in Japan.
背景
胆管癌（BTC）是一种与林奇综合征（LS）相关的癌症，死亡率很高。本研究旨在阐明LS患者中BTC的临床特征并讨论其治疗方法。
方法
我们收集了2003年1月至2021年4月期间在单一机构确诊的经基因验证的日本LS患者的数据。此外，对21例散发性BTC患者（n = 15）和LS相关BTC患者（n = 6）进行了微卫星不稳定性（MSI）检测。
结果
在92例LS患者中，有6例携带变异的患者发生了BTC（10个病灶，男性/女性，2:1）。初始BTC诊断时的中位年龄为69岁（范围，34 - 78岁）。组织学检查显示以分化型腺癌为主（89%）。然后，有2例患者患有多发BTC。所有可用的7个BTC病灶均显示微卫星高度不稳定（MSI-H）。LS携带者在70岁时发生BTC的累积风险为7.2%。6例患者中有5例死于BTC。
结论
MSI分析有助于在BTC患者中识别LS。在日本，应考虑对LS携带者进行BTC监测。
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