Cubas Castillo Robert, Ballarino Enrique Abel, Neirot Patricia, Grasso Raúl Luis
Servicio de Cirugía General, Hospital Domingo Funes, afiliado a la Universidad Nacional de Córdoba, Argentina.
Acta Gastroenterol Latinoam. 2011 Jun;41(2):137-41.
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, represents 5% to 7% of colorectal cancers. It is an autosomal dominant inherited disorder characterized by an early onset of colorectal tumors, predominantly proximal, and multiple and microsatellite instability. We used the Amsterdam II criteria for its identification.
To analyze the case of a patient with a family history of malignant colorectal tumors at an early age of onset.
A 40-year-old woman, from Valle de Punilla, Cordoba, Argentina, with no previous medical history, complained of mild changes in her bowel habits and was admitted to the general surgery department with the radiographic diagnosis of a tumor in the hepatic flexure of the colon. She underwent a right hemicolectomy for a Dukes B stenosing tumor (T3N0M0, stage IIa).
In this report, we present the case of a woman with HNPCC who met the Amsterdam II criteria II. Family members who meet these criteria should be screened for the mutation in MMR genes. As genetic tests are not routinely available, an annual colonoscopic surveillance of all asymptomatic relatives older than 25 to 30 years old who meet the criteria is recommended, regardless of the availability and/or the outcome of genetic testing.
遗传性非息肉病性结直肠癌（HNPCC），也称为林奇综合征，占结直肠癌的5%至7%。它是一种常染色体显性遗传疾病，其特征为结直肠肿瘤发病早，主要位于近端，且具有多发性和微卫星不稳定性。我们采用阿姆斯特丹Ⅱ标准对其进行识别。
分析一名发病年龄较早且有恶性结直肠肿瘤家族史患者的病例。
一名40岁女性，来自阿根廷科尔多瓦省普尼利亚谷，既往无病史，主诉排便习惯有轻微改变，因结肠肝曲部肿瘤的影像学诊断而入住普通外科。她因 Dukes B 期狭窄性肿瘤（T3N0M0，Ⅱa期）接受了右半结肠切除术。
在本报告中，我们呈现了一例符合阿姆斯特丹Ⅱ标准的HNPCC女性病例。符合这些标准的家庭成员应进行错配修复（MMR）基因突变筛查。由于基因检测并非常规可用，建议对所有符合标准的25至30岁以上无症状亲属进行年度结肠镜监测，无论基因检测是否可行和/或结果如何。
