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一例罕见的林奇综合征病例。

An Unusual Case of Lynch Syndrome.

作者信息

Pinheiro Duque Rita, Santos Nuno, Freire Bárbara, Oliveira Carlos M, Mendes João M, Macedo Juliana P, Sampaio Francisco

机构信息

General Surgery, Unidade Local de Saúde do Médio Ave, Vila Nova de Famalicão, PRT.

出版信息

Cureus. 2024 Jun 15;16(6):e62420. doi: 10.7759/cureus.62420. eCollection 2024 Jun.

DOI:10.7759/cureus.62420
PMID:39011226
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11248431/
Abstract

Lynch syndrome is the most common cause of hereditary colorectal cancer. It usually develops asymptomatically until symptoms related to colorectal carcinoma appear, such as gastrointestinal bleeding, abdominal pain, and changes in bowel habits and/or stool characteristics. Oftentime, when these clinical signs and symptoms are not present, the diagnosis becomes challenging. We present the clinical case of a 69-year-old woman, adopted, with no known previous history, who presented to the emergency department with low back pain, without irradiation, that had been going on for three days, associated with inflammatory signs in the right hip region. There were no urinary or sensory alterations and no recent trauma. She was initially discharged with antibiotherapy with the diagnosis of hip cellulitis. As the symptoms continued and the inflammation spread to the right lower limb, she returned to the emergency department. A CT scan revealed an abscess (17 cm) in the right buttock, complicated by necrotizing fasciitis due to fistulization from a tumor in the right colon. She underwent an exploratory laparotomy, which identified a neoplasm of the ascending colon, adherent to the abdominal wall, in the right lumbar region. Right hemicolectomy and drainage of the right buttock/thigh abscess were performed. The histology was compatible with invasive adenocarcinoma, with high-grade dysplasia but well differentiated, pT3G1N0. The immunohistochemistry was suggestive of Lynch syndrome.

摘要

林奇综合征是遗传性结直肠癌最常见的病因。它通常在无症状的情况下发展,直到出现与结直肠癌相关的症状,如胃肠道出血、腹痛、排便习惯和/或粪便特征改变。通常,当这些临床体征和症状不存在时,诊断就会变得具有挑战性。我们介绍一位69岁女性的临床病例,该女性为养女,既往史不详,因持续三天的无放射性的腰痛到急诊科就诊,同时伴有右髋部区域的炎症体征。无泌尿或感觉改变,近期无外伤史。她最初因诊断为臀部蜂窝织炎而接受抗生素治疗后出院。由于症状持续且炎症蔓延至右下肢,她再次返回急诊科。CT扫描显示右臀部有一个17厘米的脓肿,因右结肠肿瘤形成瘘管而并发坏死性筋膜炎。她接受了剖腹探查术,术中发现升结肠有一个肿瘤,位于右腰部,与腹壁粘连。进行了右半结肠切除术及右臀部/大腿脓肿引流术。组织学检查结果符合浸润性腺癌,伴有高级别发育异常但分化良好,pT3G1N0。免疫组化提示林奇综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b2/11248431/9c60a0d3b18b/cureus-0016-00000062420-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b2/11248431/9c60a0d3b18b/cureus-0016-00000062420-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b2/11248431/9c60a0d3b18b/cureus-0016-00000062420-i01.jpg

相似文献

1
An Unusual Case of Lynch Syndrome.一例罕见的林奇综合征病例。
Cureus. 2024 Jun 15;16(6):e62420. doi: 10.7759/cureus.62420. eCollection 2024 Jun.
2
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本文引用的文献

1
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Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.三种分子通路模型阐释林奇综合征中的结直肠癌发生机制。
Int J Cancer. 2018 Jul 1;143(1):139-150. doi: 10.1002/ijc.31300. Epub 2018 Feb 23.
4
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.错配修复缺陷的结肠癌和子宫内膜癌可能源于体细胞突变,而非种系突变。
Gastroenterology. 2014 Dec;147(6):1308-1316.e1. doi: 10.1053/j.gastro.2014.08.041. Epub 2014 Sep 3.
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Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers.错配修复基因突变携带者行直肠癌手术后发生异时性结肠癌的风险。
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Cancer risks for MLH1 and MSH2 mutation carriers.MLH1 和 MSH2 突变携带者的癌症风险。
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Identification of Lynch syndrome among patients with colorectal cancer.结直肠癌患者中林奇综合征的鉴定。
JAMA. 2012 Oct 17;308(15):1555-65. doi: 10.1001/jama.2012.13088.
8
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.林奇综合征中 MLH1、MSH2 和 MSH6 基因种系突变与癌症风险的相关性。
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9
ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes.美国临床肿瘤学会/外科肿瘤学会对降低风险手术在常见遗传性癌症综合征中的当前作用的综述。
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