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遗传性非息肉病性结直肠癌与克罗恩病及林奇综合征:严格内镜监测的重要性

Hereditary Nonpolyposis Colorectal Cancer in Association with Crohn's Disease and Lynch Syndrome: The Importance of a Strict Endoscopic Surveillance.

作者信息

Hahn Gustavo Drügg, Wetwittayakhlang Panu, Afif Waqqas, Bessissow Talat, Lakatos Peter L

机构信息

Division of Gastroenterology, McGill University Health Center, Montreal, Québec, Canada.

Universidade Federal do Rio Grande do Sul, School of Medicine, Graduate Course Sciences in Gastroenterology and Hepatology, Porto Alegre, Brazil.

出版信息

Case Rep Gastroenterol. 2022 Mar 17;16(1):116-121. doi: 10.1159/000521919. eCollection 2022 Jan-Apr.

Abstract

Crohn's disease (CD) and Lynch syndrome (LS) are two different entities, yet both are associated with increased risk of colorectal cancer (CRC). We present the case of a young female patient in long-standing remission of her ileocolonic luminal CD, and a family history of LS on a regular short interval (every 2 years) colonoscopy surveillance. Despite normal blood tests, fecal calprotectin, and ileocolonoscopy, her last colonoscopy showed an approximately 1.3-1.5 cm polyp in the cecum and mild UC-like colitis in the ascending colon. Histology confirmed the presence of a moderately differentiated adenocarcinoma (T2N0M0) with loss of PSM2 expression at immunohistochemistry, in line with a hereditary nonpolypoid CRC associated origin. Laparoscopic subtotal colectomy with ileorectal anastomosis was offered as the treatment of choice, which revealed a 2.4 cm exophytic ulcerated lesion and pathology confirmed invasive moderately differentiated adenocarcinoma (pT2N0M0). Patient will remain on close endoscopic surveillance for the rectum. Our case highlights the importance of a strict endoscopic surveillance in patients with long-standing CD colitis, especially in patients with additional risk factors. The aim of this article was to highlight the importance of a strict endoscopic surveillance in CD in association with LS regarding a higher risk of CRC, which mandates the adaptation of the endoscopic surveillance intervals as well as the surgical approach and postoperative management/surveillance.

摘要

克罗恩病(CD)和林奇综合征(LS)是两种不同的疾病,但二者均与结直肠癌(CRC)风险增加相关。我们报告了一例年轻女性患者,其回结肠腔型CD处于长期缓解期,且有LS家族史,因此定期(每2年)接受结肠镜监测。尽管血液检查、粪便钙卫蛋白及回结肠镜检查结果均正常,但她最近一次结肠镜检查显示盲肠有一个约1.3 - 1.5厘米的息肉,升结肠有轻度UC样结肠炎。组织学检查证实存在中度分化腺癌(T2N0M0),免疫组化显示PSM2表达缺失,符合遗传性非息肉病性结直肠癌相关起源。腹腔镜次全结肠切除术加回直肠吻合术被作为首选治疗方案,术中发现一个2.4厘米的外生性溃疡病变,病理证实为浸润性中度分化腺癌(pT2N0M0)。患者将继续接受直肠的密切内镜监测。我们的病例强调了对长期患有CD结肠炎的患者进行严格内镜监测的重要性,尤其是对有其他风险因素的患者。本文的目的是强调在CD合并LS的情况下,鉴于CRC风险较高,严格内镜监测的重要性,这就要求调整内镜监测间隔以及手术方式和术后管理/监测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbfa/9035908/ae38119692df/crg-0016-0116-g01.jpg

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