Gastroenterology and Nutrition Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Digestive Disease Associates, New Haven, CT.
Clin Colorectal Cancer. 2017 Sep;16(3):173-177. doi: 10.1016/j.clcc.2017.01.002. Epub 2017 Feb 2.
The frequency of mismatch repair (MMR) deficiency (dMMR) in patients < 50 years with adenomas without a known germline mutation is unknown. Our aim was to define the frequency of dMMRs in adenomas from patients aged < 50 years.
We identified all patients aged 18 to 49 years who had undergone colonoscopy at Memorial Sloan Kettering Cancer Center from 2008 to 2013 and were identified as having tubular, villous, or tubulovillous adenomas on pathology. Patients with a personal history of colorectal cancer, polyposis syndrome, or inflammatory bowel disease before colonoscopy were excluded. Age, demographic data, family history of cancer, personal history of cancer, use of radiation, reason for colonoscopy, and colonoscopy findings were recorded. Polyps were stained using immunohistochemistry for MLH1, MSH2, MSH6, and PMS2 proteins.
A total of 208 patients with 266 polyps were identified. Of the 266 polyps, 259 could be stained. Of the 208 patients, 82 (40%) were men; their mean age was 44 years. The indication for colonoscopy was screening for 120, diagnostic for 75, and therapeutic for 15. Of the 259 examined polyps, 246 (95%) were tubular adenomas and 13 were tubulovillous adenomas (5%). One patient (0.4%) was found to have dMMRs in 1 polyp. This patient was a 42-year-old woman with a history of endometrial cancer who had undergone colonoscopy for hematochezia. A 15-mm transverse tubular adenoma was found that was deficient in MLH1 and PMS2.
Our results indicate that routine screening of polyps in patients aged < 50 years old is not an effective tool for identifying Lynch syndrome carriers.
在无已知种系突变的腺瘤患者中，年龄<50 岁且错配修复（MMR）缺陷（dMMR）的频率尚不清楚。我们的目的是确定年龄<50 岁患者的腺瘤中 dMMR 的频率。
我们在 2008 年至 2013 年间确定了所有在 Memorial Sloan Kettering 癌症中心接受结肠镜检查的年龄在 18 至 49 岁的患者，并在病理检查中发现管状、绒毛状或管状绒毛状腺瘤。在结肠镜检查前患有结直肠癌、息肉病综合征或炎症性肠病个人史的患者被排除在外。记录年龄、人口统计学数据、癌症家族史、癌症个人史、放射治疗史、结肠镜检查的原因和结肠镜检查结果。使用 MLH1、MSH2、MSH6 和 PMS2 蛋白的免疫组织化学染色检测息肉。
共确定了 208 例有 266 个息肉的患者。在 266 个息肉中，有 259 个可染色。在 208 例患者中，有 82 例（40%）为男性，平均年龄为 44 岁。结肠镜检查的指征是 120 例筛查，75 例诊断，15 例治疗。在 259 个检查的息肉中，246 个（95%）是管状腺瘤，13 个是管状绒毛状腺瘤（5%）。在 1 个息肉中发现了 1 例 dMMR（0.4%）。这名患者是一名 42 岁的子宫内膜癌患者，因血便而行结肠镜检查。发现了一个 15 毫米的横向管状腺瘤，该腺瘤缺乏 MLH1 和 PMS2。
我们的结果表明，对年龄<50 岁的患者的常规息肉筛查不是识别 Lynch 综合征携带者的有效工具。
