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World J Obstet Gynecol. Nov 10, 2016; 5(4): 218-225
Published online Nov 10, 2016. doi: 10.5317/wjog.v5.i4.218
Screening and diagnosis of endometrial cancer in Lynch syndrome
Caroline Cornou, Anne Sophie Bats, Charlotte Ngo, Léa Rossi, Perrine Capmas, Pierre Laurent-Puig, Chérazade Bensaid, Claude Nos, Marie Aude Lefrère-Belda, Fabrice Lécuru
Caroline Cornou, Anne Sophie Bats, Charlotte Ngo, Léa Rossi, Perrine Capmas, Pierre Laurent-Puig, Chérazade Bensaid, Claude Nos, Marie Aude Lefrère-Belda, Fabrice Lécuru, Department of Gynecologic Oncology, European Hospital Georges Pompidou, University of Paris Descartes, 75015 Paris, France
Author contributions: All the authors contributed to the manuscript.
Conflict-of-interest statement: There is no conflict of interest associated with any of the senior author or other coauthors contributed their efforts in this manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Caroline Cornou, MD, Department of Gynecologic Oncology, European Hospital Georges Pompidou, University of Paris Descartes, 20 rue Leblanc, 75015 Paris, France. caroline.cornou@aphp.fr
Telephone: +33-1-56092565 Fax: +33-1-56092582
Received: June 9, 2016
Peer-review started: June 14, 2016
First decision: July 11, 2016
Revised: September 15, 2016
Accepted: October 25, 2016
Article in press: October 27, 2016
Published online: November 10, 2016
Abstract

Lynch syndrome (LS) is an autosomal dominant inherited cancer predisposition syndrome caused by a mismatch of DNA repair (MMR system). Lifetime risk of developing endometrial and ovarian cancer in LS is higher than in the general population and gynecologic screening appears interesting. Screening is based on several tests: pelvic ultrasound, endometrial biopsy and hysteroscopy for endometrial cancer, pelvic ultrasound and CA125 for ovarian cancer. Those tests appear efficient for the diagnosis of gynecologic cancers in LS. Nevertheless, screening tests have not proved clinical benefit until now, and potential problems of compliance, risk of false negative cases, and interval cancer associated with screening do justify offering prophylactic surgery to patients. Women with LS should be informed of the potential benefits and risks of screening and the importance of evaluation in case of gynecologic symptoms or abnormal bleeding. Chemoprevention by progestin-containing oral contraceptives and the treatment of premalignant lesion are available options for reducing the risk of endometrial cancer in LS population.

Keywords: Lynch syndrome, Endometrial cancer, Ovarian cancer, Gynecologic screening, Prophylactic hysterectomy

Core tip: Lynch syndrome (LS) is an autosomal dominant inherited cancer predisposition syndrome caused by a mismatch of DNA repair, lifetime risk of developing endometrial and ovarian cancer in LS is higher than in the general population. Gynecologic screening appears interesting for the diagnosis of gynecological cancers in LS although screening tests have not proved clinical benefit until now. The aim of this review was to describe the various forms of screening and the results in this population.