Pistorius Steffen, Kruger Stefan, Hohl Ruth, Plaschke Jens, Distler Wolfgang, Saeger Hans-Detlev, Schackert Hans Konrad
Department of Visceral, Thoracic and Vascular Surgery, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
Gynecol Oncol. 2006 Aug;102(2):189-94. doi: 10.1016/j.ygyno.2005.12.032. Epub 2006 Feb 14.
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most frequent form of hereditary colorectal cancer. In addition to the high lifetime risk for colorectal cancer in mutation carriers, there is also a remarkably increased risk for endometrial cancer (EC).
In this retrospective study, clinical and molecular approach to the individual decision making as to whether or not to perform a prophylactic hysterectomy in a subset of HNPCC patients is discussed. 147 female patients meeting at least one criterion of the Bethesda guidelines were included in this analysis between 1995 and 2003. After clinical and genetic counseling, patients gave informed written consent and microsatellite analysis, immunohistochemistry and sequencing of the mismatch repair genes MLH1, MSH2 and MSH6 was performed.
11 of the analyzed patients had a personal history of EC and had undergone previous hysterectomy at ages 26 to 62 years. Prophylactic hysterectomy with oophorectomy was considered in postmenopausal women meeting the Amsterdam criteria and/or carrying a disease causing mismatch repair gene mutation who were operated on because of diagnosed colorectal cancer in our center for hereditary cancer. This procedure was performed in 4 patients. None of them had shown any symptoms of a gynecologic malignancy. Preoperative gynecological examination showed no evidence for EC or ovarian cancer in these patients. Postoperative histological examination showed EC stage T1b N0 M0 in 2 patients.
Since the efficiency of gynecological surveillance is uncertain, prophylactic hysterectomy could be an option for a subset of HNPCC patients and mutation carriers.
遗传性非息肉病性结直肠癌（HNPCC）是遗传性结直肠癌最常见的类型。除了突变携带者患结直肠癌的终生风险较高外，子宫内膜癌（EC）的风险也显著增加。
在这项回顾性研究中，讨论了针对一部分HNPCC患者是否进行预防性子宫切除术的临床和分子决策方法。1995年至2003年间，147名至少符合贝塞斯达指南一项标准的女性患者纳入本分析。经过临床和遗传咨询后，患者签署知情书面同意书，并进行微卫星分析、免疫组化以及错配修复基因MLH1、MSH2和MSH6的测序。
11名分析患者有子宫内膜癌个人史，曾在26至62岁接受子宫切除术。对于符合阿姆斯特丹标准和/或携带致病错配修复基因突变的绝经后女性，若因遗传性癌症在本中心被诊断为结直肠癌而接受手术，则考虑进行预防性子宫切除加卵巢切除术。4名患者接受了该手术。他们均未出现任何妇科恶性肿瘤症状。术前妇科检查未发现这些患者有子宫内膜癌或卵巢癌迹象。术后组织学检查显示2名患者为子宫内膜癌T1b N0 M0期。
由于妇科监测的有效性尚不确定，预防性子宫切除术可能是一部分HNPCC患者和突变携带者的选择。
