Rijcken Fleur E M, Mourits Marian J E, Kleibeuker Jan H, Hollema Harry, van der Zee Ate G J
Department of Gastroenterology, University Hospital Groningen, Groningen, The Netherlands.
Gynecol Oncol. 2003 Oct;91(1):74-80. doi: 10.1016/s0090-8258(03)00371-8.
In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and transvaginal ultrasound (TVU) examination and serum level CA 125 analysis. The aim of the present study was to evaluate our 10-year experience with this screening program.
Women who are MMR gene mutation carriers or who fulfil the Amsterdam criteria were identified from our HNPCC database. Information concerning the screening program was retrospectively collected from patient files.
Forty-one women, 35 premenopausal and 6 postmenopausal, were enrolled in the program with a median follow-up of 5 years (range 5 months-11 years). In 197 patient years at risk, 17 of 179 TVUs gave reason for endometrial sampling. Three premalignant lesions, with complex atypical hyperplasia, were discovered. One interval endometrial cancer was detected as a result of clinical symptoms. No abnormal CA 125 levels were measured and no ovarian cancers were detected.
These results demonstrate that gynecologic screening allows the detection of premalignant lesions of the endometrium but also illustrate that recognition and reporting of clinical symptoms by the women themselves is of utmost importance.
在遗传性非息肉病性结直肠癌（HNPCC）中，错配修复（MMR）基因突变的女性患子宫内膜癌的终生累积风险为25% - 50%，患卵巢癌的风险为8% - 12%。因此，HNPCC家族的女性成员每年接受妇科检查、经阴道超声（TVU）检查以及血清CA 125水平分析。本研究的目的是评估我们在这一筛查项目中的10年经验。
从我们的HNPCC数据库中识别出MMR基因突变携带者或符合阿姆斯特丹标准的女性。有关筛查项目的信息从患者档案中进行回顾性收集。
41名女性纳入该项目，其中35名处于绝经前，6名处于绝经后，中位随访时间为5年（范围5个月 - 11年）。在197个患者年的风险期内，179次经阴道超声检查中有17次提示需要进行子宫内膜取样。发现3例伴有复杂非典型增生的癌前病变。因临床症状检测出1例间隔期子宫内膜癌。未检测到CA 125水平异常，也未发现卵巢癌。
这些结果表明，妇科筛查能够检测出子宫内膜的癌前病变，但也说明女性自身对临床症状的识别和报告至关重要。
