Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome

Abstract

In women with hereditary non polyposis colorectal carcinoma (HNPCC) an annual gynaecological surveillance has been recommended because of an increased lifetime risk of developing endometrial and ovarian carcinoma. The aim of this study was to assess the efficacy of gynaecological surveillance with regard to endometrial and ovarian carcinoma. Included were women from families that fulfilled the revised Amsterdam criteria for HNPCC or who showed a proven mutation in one of the mismatch repair genes. An annual gynaecological surveillance was performed (transvaginal ultrasound (TVU) and CA 125 assessment). From January 2006 on, routine endometrial sampling was included. In a total number of 100 women 285 surveillance visits were performed. Among these, in 64 visits routine endometrial samplings were performed: three atypical hyperplasias and one endometrial carcinoma were diagnosed. This was significantly more than the atypical hyperplasia and two endometrial carcinomas that were detected after 28 samples performed because of abnormal surveillance results in 221 visits. There were no interval carcinomas. One invasive ovarian carcinoma stage IIIC was diagnosed at ovarian surveillance. Endometrial surveillance with routine endometrial sampling in women with HNPCC is more efficient in diagnosing endometrial (pre)malignancies than TVU only. Ovarian surveillance is not capable of diagnosing early stage ovarian carcinoma. Prophylactic hysterectomy in HNPCC should be restricted to women in whom abdominal surgery for other reasons is performed and to those with particularly increased risk such as MSH6 mutation carriers and/or women with multiple relatives with endometrial carcinoma.

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

“…Thirteen references 65,107,167,[190][191][192][193][194]196,[298][299][300][301] were included on the basis of title and abstract screening. Of these, seven references 107,190,191,194,196,298,299 were primary studies (two 298,299 were conference abstracts and the remaining five were peer-reviewed full papers), five references 65,167,192,193,300 were papers including a review of the literature and one 301 was a letter in response to Dove-Edwin and colleagues.…”

“…Of these, seven references 107,190,191,194,196,298,299 were primary studies (two 298,299 were conference abstracts and the remaining five were peer-reviewed full papers), five references 65,167,192,193,300 were papers including a review of the literature and one 301 was a letter in response to Dove-Edwin and colleagues. 190 After reviewing full texts, we excluded four primary studies 194,196,298,299 as they did not include an appropriate comparator. We excluded the paper by Schorge and colleagues 300 as it did not include any relevant studies (all studies related to other hereditary causes of OC).…”

“…l detection and removal by operative hysteroscopy of pre-malignancies 195,196 l detection of pre-malignancies leading to prophylactic hysterectomy (perhaps with bilateral salpingo-oophorectomy) 191,194 l FP screening leading to prophylactic hysterectomy.…”

“…190,191,[194][195][196] In our review, the study by Lécuru and colleagues 195 was excluded because the abstract suggested there was no comparator for the surveillance strategy. Auranen and Joutsiniemi conclude that the studies they included do not allow for evidence-based decision-making.…”

Lynch Syndrome how can we improve the Clinical Awareness?

“…Therefore the colonoscopic screening has to start at an early age and has to be performed in frequent intervals. The extracolonic cancer screening should comprise endometrial aspiration and transvaginal ultrasound although we lack evidence-based data showing survival from such a screening [2,10,11]. Furthermore, a gastroscopy is recommend for all patients from the age of 35 independent from the existence of gastric cancer in the family history [12].…”