Togawa Ayako, Ueno Masayuki, Yamaoka Mari, Takada Kensuke, Nishina Shinichi, Ikeda Yuki, Uenishi Yosuke, Hata Ayako, Mano Toshifumi, Moriwaki Toshikazu, Mouri Hirokazu, Mizuno Motowo
Department of Gastroenterology and Hepatology, Kurashiki Central Hospital, Japan.
Department of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, Japan.
Intern Med. 2025 Apr 15;64(8):1189-1193. doi: 10.2169/internalmedicine.4180-24. Epub 2024 Sep 27.
We herein report a patient with Lynch-like syndrome in whom a brain tumor (glioblastoma) developed after repeated resection of colorectal cancer. The patient had a significant family history of cancer. Immunohistochemical expression of mismatch repair proteins was decreased in both brain and colon tumors, but no pathogenic variant of the related genes was detected. Although brain tumors occasionally develop in Lynch syndrome, they have not been reported in cases of Lynch-like syndrome. This first report of Lynch-like syndrome with the development of glioblastoma suggests the need for further investigation on the surveillance of brain tumors in patients with this syndrome.
我们在此报告一例具有林奇样综合征的患者,该患者在多次切除结直肠癌后发生了脑肿瘤(胶质母细胞瘤)。该患者有显著的癌症家族史。错配修复蛋白在脑肿瘤和结肠肿瘤中的免疫组化表达均降低,但未检测到相关基因的致病变异。虽然脑肿瘤偶尔会在林奇综合征中发生,但在林奇样综合征病例中尚未见报道。这例林奇样综合征合并胶质母细胞瘤的首例报告提示,有必要对该综合征患者脑肿瘤的监测进行进一步研究。