Sorscher Steven
Division of Oncology, Washington University in St. Louis, 660 S. Euclid Avenue CB 8056, 63110, St. Louis, MO USA.
Hered Cancer Clin Pract. 2015 May 16;13(1):12. doi: 10.1186/s13053-015-0033-2. eCollection 2015.
Patients with Lynch Syndrome are at high risk for developing a variety of cancers including cancers of the colon or rectum, small bowel, stomach, uterus, renal pelvis, ureter, biliary tract, ovaries, brain and pancreas (N Engl J Med 348: 919-32, 2003; Gut 57:1097-101, 2008; NCCN, Inc Guideline. Ft. Washington, PA. Online Version 2.2014). Lack of MLH-1 and MSH-2 expression commonly result from germline mutations in this inherited cancer syndrome. Here, we report the case of a patient with a molecularly confirmed germline mutation in MLH-1 along with a colon cancer showing lack of expression of MLH-1 as well as a squamous cell cancer of the skin from the abdominal wall also demonstrating lack of expression of MLH-1. This case appears to represent the second case report of a squamous cell skin cancer apparently due to the Lynch Syndrome and further supports a proposed relationship between Lynch Syndrome and these tumors.
林奇综合征患者患多种癌症的风险很高，包括结肠癌或直肠癌、小肠癌、胃癌、子宫癌、肾盂癌、输尿管癌、胆管癌、卵巢癌、脑癌和胰腺癌（《新英格兰医学杂志》348: 919 - 32, 2003；《肠道》57:1097 - 101, 2008；美国国立综合癌症网络（NCCN）指南。宾夕法尼亚州华盛顿堡。在线版本2.2014）。在这种遗传性癌症综合征中，MLH - 1和MSH - 2表达缺失通常是由种系突变引起的。在此，我们报告一例患者，其分子检测证实存在MLH - 1种系突变，同时患有结肠癌，表现为MLH - 1表达缺失，以及腹壁皮肤鳞状细胞癌，也显示MLH - 1表达缺失。该病例似乎是第二例明显由林奇综合征导致的皮肤鳞状细胞癌病例报告，进一步支持了林奇综合征与这些肿瘤之间的推测关系。
