Kanaya Nobuhiko, van Schaik Thijs A, Aoki Hideki, Sato Yumiko, Taniguchi Fumitaka, Shigeyasu Kunitoshi, Sugano Kokichi, Akagi Kiwamu, Ishida Hideyuki, Tanakaya Kohji
Department of Surgery National Hospital Organization Iwakuni Clinical Center Yamaguchi Japan.
Department of Neurosurgery Brigham and Women's Hospital, Harvard Medical School Boston Massachusetts USA.
Ann Gastroenterol Surg. 2024 Apr 22;8(6):1008-1016. doi: 10.1002/ags3.12809. eCollection 2024 Nov.
Lynch syndrome (LS) is a dominantly inherited syndrome characterized by an increased risk for LS associated tumors such as colorectal cancer (CRC) and gastric cancer (GC). However, the clinical benefit of surveillance for GC remains unclear while it has already been recommended for CRC. This study aimed to elucidate the clinical features of GC in Japanese individuals with LS, and the risk of developing multiple GCs to build regional-tailored surveillance programs in LS patients with GC.
Data on Japanese individuals with LS were retrospectively collected from a single institution. The clinical features of GC, including the cumulative risk of multiple GCs, were analyzed.
Among 96 individuals with LS (//, 75:20:1), 32 GC lesions were detected in 15 individuals with LS (male/female, 11:4). The median age at initial GC diagnosis was 52.7 y (range: 28-71). Histological examination revealed a predominance of intestinal type (19/24: 87.5%). Moreover, the majority of the GC lesions (82%) were determined to have high-frequency of microsatellite instability. The cumulative risk of individuals with LS developing GC at 70 y was 31.3% ( 36.1%, 18.0%). Notably, the cumulative risk of individuals with LS developing metachronous and/or synchronous GCs at 0, 10 and 20 y after initial diagnosis of GC was 26.7%, 40.7%, and 59.4%, respectively.
Due to a higher risk of developing multiple GCs, intensive surveillance might be especially recommended for Japanese individuals with LS associated initial GC.
林奇综合征(LS)是一种常染色体显性遗传综合征,其特征是患LS相关肿瘤(如结直肠癌(CRC)和胃癌(GC))的风险增加。然而,虽然已经推荐对CRC进行监测,但对GC进行监测的临床益处仍不明确。本研究旨在阐明日本LS患者中GC的临床特征,以及发生多发性GC的风险,以便为患有GC的LS患者制定区域针对性的监测方案。
回顾性收集来自单一机构的日本LS患者的数据。分析GC的临床特征,包括多发性GC的累积风险。
在96例LS患者中(男/女,75:20:1),15例LS患者(男/女,11:4)检测到32个GC病灶。首次诊断GC的中位年龄为52.7岁(范围:28 - 71岁)。组织学检查显示肠型占主导(19/24: 87.5%)。此外,大多数GC病灶(82%)被确定具有高频微卫星不稳定性。LS患者在70岁时发生GC的累积风险为31.3%(95%置信区间,36.1%,18.0%)。值得注意的是,LS患者在首次诊断GC后0、10和20年发生异时性和/或同步性GC的累积风险分别为26.7%、40.7%和59.4%。
由于发生多发性GC的风险较高,对于患有与初始GC相关的LS的日本患者,可能特别推荐进行强化监测。