FMUSP, São Paulo, Brazil.
Departamento de Gastroenterologia, Hospital das Clínicas, HCFMUSP, São Paulo, Brazil.
BMC Cancer. 2019 Apr 5;19(1):324. doi: 10.1186/s12885-019-5505-8.
We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease.
We present the case of a 44 years old male, that sought medical consultation with a complaint of abdominal discomfort, that after five days changed its characteristics. The patient was sent to the emergency department were a CT-scan revealed intestinal sub-occlusion by ileocolic invagination. Right colectomy was carried out. The anatomic-pathological examination revealed a moderately differentiated mucinous adenocarcinoma and multiples sessile polyps, which led to the suspicion of a genetic syndrome. In the genetics analysis two mutations were observed in the MUTYH gene, and MUTYH-associated polyposis was diagnosticated.
This case demonstrates the importance of meticulous analysis of the patient examinations results to identify possible discrete alterations that can lead to improved understanding of disease.
我们报告了一例罕见的 MUTYH 相关性息肉病，这是一种结直肠癌遗传性综合征，在肠套叠后被诊断出来。结直肠癌是癌症相关死亡的重要原因之一，其表现为肠套叠，这在成年人中很少见，几乎总是与肿瘤有关。大约 5%的结直肠癌可归因于已知可导致遗传性结直肠癌的综合征，如 MUTYH 相关性息肉病，这是一种与这种疾病相关的常染色体遗传综合征。
我们介绍了一例 44 岁男性的病例，他因腹部不适就诊，五天后症状改变。患者被送往急诊，CT 扫描显示回肠-结肠套叠引起的肠部分阻塞。进行了右结肠切除术。解剖病理学检查显示中分化黏液腺癌和多个息肉，这提示存在遗传综合征。在基因分析中，MUTYH 基因观察到两个突变，诊断为 MUTYH 相关性息肉病。
该病例表明仔细分析患者检查结果的重要性，以识别可能导致更好理解疾病的离散改变。
