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四重原发性胃肠道癌伴错配修复蛋白缺陷与微卫星不稳定性不一致,提示林奇综合征。

Quadruple gastrointestinal cancer with discordance of mismatch repair protein deficiency and microsatellite instability suggesting Lynch syndrome.

作者信息

Toyota Satoshi, Nakanishi Ryota, Miyashita Yu, Yoshino Shinichiro, Fujimoto Yoshiaki, Jogo Tomoko, Hu Qingjiang, Hokonohara Kentaro, Hisamatsu Yuichi, Ando Koji, Kimura Yasue, Oki Eiji, Oda Yoshinao, Mori Masaki

机构信息

Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582 Japan.

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

Int Cancer Conf J. 2020 Nov 24;10(1):2-5. doi: 10.1007/s13691-020-00457-9. eCollection 2021 Jan.

DOI:10.1007/s13691-020-00457-9
PMID:33489692
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7797393/
Abstract

A 65-year-old woman with prior personal and family histories of cancer was admitted to our hospital for quadruple cancer. Preoperative endoscopy revealed a type 0-II gastric cancer (GC; gastric body), advanced type-II colon cancer (ascending colon), and early-stage recto-sigmoid colon cancers. We diagnosed her with Lynch syndrome (LS) per Amsterdam criteria, and performed distal gastrectomy, ileocecal resection and high anterior resection. Her pathological diagnoses were GC: well-to-poorly differentiated adenocarcinoma (AD, por2 > tub2) with signet-ring cells, ypT1b SM2; ascending colon cancer: AD with focal mucin products (tub2 > muc), SS; sigmoid colon cancer: AD (tub1), M; recto-sigmoid cancer: AD (tub1 > tub2), SM. Immunohistochemical tests revealed that all cancers lacked the MLH1/PMS2 protein. However, the three colon cancers were found to have high microsatellite instability (MSI); the GC was microsatellite stable (MSS). No recurrence or other cancers were observed for 30 months after surgery without adjuvant chemotherapy. As patients with LS may also develop MSS cancers, we should check for MSI in all LS cancers for proper treatment.

摘要

一名有个人和家族癌症病史的65岁女性因四重癌症入住我院。术前内镜检查发现0-II型胃癌(GC;胃体)、进展期II型结肠癌(升结肠)和早期直肠乙状结肠癌。我们根据阿姆斯特丹标准诊断她患有林奇综合征(LS),并进行了远端胃切除术、回盲部切除术和高位前切除术。她的病理诊断为:GC:伴有印戒细胞的高分化至低分化腺癌(AD,por2>tub2),ypT1b SM2;升结肠癌:伴有局灶性黏液产物的AD(tub2>muc),SS;乙状结肠癌:AD(tub1),M;直肠乙状结肠癌:AD(tub1>tub2),SM。免疫组织化学检测显示所有癌症均缺乏MLH1/PMS2蛋白。然而,发现三种结肠癌具有高微卫星不稳定性(MSI);GC为微卫星稳定(MSS)。术后30个月未进行辅助化疗,未观察到复发或其他癌症。由于LS患者也可能发生MSS癌症,我们应在所有LS癌症中检查MSI以进行适当治疗。

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本文引用的文献

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