Valencia Cardona Andrés Felipe, Cruz Barbosa Jhoan Sebastián, Cortés Buelvas Armando
Universidad del Valle, Departamento de Patología Cali, Universidad Santiago de Cali, Colombia.
Universidad del Valle, Departamento de Patología Cali, Colombia.
Rev Esp Patol. 2025 Jul-Sep;58(3):100826. doi: 10.1016/j.patol.2025.100826. Epub 2025 Apr 10.
Lynch syndrome (LS) is an autosomal dominant genetic condition, accounting for an estimated prevalence of 2-3% of the causes of hereditary colorectal carcinoma. In addition, it increases the risk of endometrial and ovarian cancer, among others.
A 56-year-old woman with a 6-month history of pelvic pain, dyspareunia and hypermenorrhoea. Family history: her mother died of endometrial cancer at the age of 71, and her younger brother died of gastric cancer at the age of 61. A transvaginal ultrasound revealed a 20mm thickening of the endometrium, and the biopsy showed a FIGO 2 endometrioid carcinoma. Abdominal MRI demonstrated diffuse thickening of the rectum, while colonoscopy revealed an infiltrative, ulcerated tumour lesion in the sigmoid colon and a lesion in the rectum, consistent with invasive adenocarcinoma of the colon and adenoma with high-grade dysplasia in the rectal biopsy. Simultaneous surgical resection was indicated. A molecular panel confirmed a mutation in the MSH6 gene, confirming Lynch syndrome.
A rare case of Lynch syndrome associated with an MSH6 gene mutation, diagnosed with synchronous endometrial carcinoma and adenocarcinoma of the sigmoid colon.
林奇综合征（LS）是一种常染色体显性遗传病，估计占遗传性结直肠癌病因的2%-3%。此外，它还会增加子宫内膜癌和卵巢癌等疾病的发病风险。
一名56岁女性，有6个月盆腔疼痛、性交困难和月经过多病史。家族史：她的母亲71岁时死于子宫内膜癌，弟弟6个月时死于胃癌。经阴道超声显示子宫内膜增厚20mm，活检显示为国际妇产科联盟（FIGO）2级子宫内膜样癌。腹部磁共振成像（MRI）显示直肠弥漫性增厚，而结肠镜检查显示乙状结肠有浸润性溃疡肿瘤病变，直肠有病变，直肠活检结果符合结肠浸润性腺癌和高级别异型增生腺瘤。建议进行同步手术切除。分子检测证实MSH6基因存在突变，确诊为林奇综合征。
这是一例罕见的与MSH6基因突变相关的林奇综合征病例，诊断为同步性子宫内膜癌和乙状结肠腺癌。
