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1. Outcomes of endometrial cancer prevention strategies in patients with Lynch syndrome: a nationwide cohort study in the NetherlandsResearch in context

Author

Ellis L. Eikenboom, Lotte van Leeuwen, Floris Groenendijk, Jorien M. Woolderink, Anne M. Van Altena, Monique E. Van Leerdam, Manon C.W. Spaander, Helena C. van Doorn, Anja Wagner, M.C. Breijer, A.S. Tjalsma, F. Vork, H.P.M. Smedts, J. van der Velden, M.M.A. Brood-van Zanten, J.E. van de Riet, A.L.M. Oei, H. Kessel, P.M.L.H. Vencken, M.P.L.M. Snijders, R.H.M. Hermans, A. Bouman, H.W. Ünsalan, A.M.G. van de Swaluw, G.M. Plaisier, H.C. van Doorn, K. van den Berg, W. Hofhuis, Y.A.J.M. Dabekausen, P.R. Kolk, H.T.C. Nagel, A.M.L.D. van Haaften-de Jong, A.C. van Hof, M. van den Hende, J. Kaijser, H.H. de Haan, R.A. Smit, M.W.G. Moonen-Delarue, J.J. Beltman, J.E. Martens, R. Kruitwagen, J.M. van der Ploeg, J.M. Woolderink, S.F.P.J. Coppus, M.J. Duk, M.J.A. Apperloo, C.M. Koopmans, C.C.M. Buis, H. van Meurs, E.C. Dul, B.B.J. Hermsen, A.M. van Altena, A. Baalbergen, A.A. van Ginkel-Terng, M. Baas, P. van Greunen, C.M.W.H. Smeets, H. Knipscheer, C. Schmeink, M.D. van der Laan, E.J.M. van Es, J.E.W. van Dijk, F.M.F. Rosier-van Dunné, H. Nijman, C.G. Gerestein, D. Boskamp, E.C.A.H. Scheers, M. Verbruggen, L.R. Bartelink, C.B.M. Kruijdenberg, J.M. Briët, B. Visschers, and M. Engelen

Subjects
Lynch syndrome, Gynaecological surveillance, Endometrial carcinoma, Medicine (General), R5-920
Abstract

Summary: Background: Female Lynch syndrome carriers have an increased risk of developing endometrial cancer. Regardless, research on endometrial carcinoma tumorigenesis is scarce and no uniform, evidence-based gynaecological management guidelines exist. We therefore described gynaecological surveillance and surgery outcomes in a nation-wide Lynch syndrome cohort. Methods: For this retrospective cohort study, female Lynch syndrome carriers, prospectively registered in the Dutch Lynch syndrome database (StOET), were included up to February 28th 2022. Carriers were linked to the Dutch national pathology (PALGA) database. The number of carriers with/without gynaecological surveillance, number of index carriers with endometrial carcinoma before Lynch syndrome diagnosis were assessed, as well as uptake of risk-reducing surgery and characteristics of endometrial carcinomas including the requisite for adjuvant therapy according to current guidelines. Overall survival after endometrial carcinoma diagnosis was analyzed using Kaplan Meier time to event analyses, cumulative incidence was calculated after adjusting for competing risks (death and prophylactic hysterectomy). Findings: In total, 1046 registered female Lynch syndrome carriers were eligible for surveillance, of whom 313 (30.0%) did not have surveillance and 21.4% (n = 224 of 1046) opted for prophylactic hysterectomy. In carriers with surveillance, more cases of endometrial carcinoma and hyperplasia were found than in those without (37 endometrial carcinomas (7.3%) and 28 hyperplasias (5.5%) in 506 carriers with surveillance versus 14 (2.6%) and 4 (0.7%) in 540 carriers without surveillance, respectively); carriers with surveillance were generally younger than those without (median 56 years [IQR 48–65] versus median 65 years [IQR 49–75] at database assembly, respectively; p

Published
2025
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2. Evaluation of a nationwide Dutch guideline to detect Lynch syndrome in patients with endometrial cancer

Author

K. Schelfhout, H.P.M. Smedts, A.A.M. van der Wurff, Anja Wagner, R.A. Smit, W. Dinjens, L. Hofman, A.S. Tjalsma, M.E.R. de Groot, Luthy S.M. Alcala, A.C. van Hof, P.J. Timmers, Patricia C. Ewing-Graham, B.A.J.T. Visschers, W. Hofhuis, H. C. van Doorn, K.E. Hamoen, K.J. Hoogduin, A.C.F. Makkus, S.J.J. Mol, G.M. Plaisier, P.M.L.H. Vencken, J. Kaijser, Obstetrics & Gynecology, Clinical Genetics, and Pathology

Subjects
0301 basic medicine, medicine.medical_specialty, Concordance, Genetic counseling, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Internal medicine, PMS2, medicine, Humans, Genetic Predisposition to Disease, Aged, Netherlands, business.industry, Endometrial cancer, Obstetrics and Gynecology, Microsatellite instability, Guideline, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Lynch syndrome, Endometrial Neoplasms, MSH6, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Female, business
Abstract

Objective: In the Netherlands a nationwide guideline was introduced in 2016, which recommended routine Lynch syndrome screening (LSS) for all women with endometrial cancer (EC)

Published
2021

3. P89 Implementation of a nationwide guideline to detect of women at risk for Lynch syndrome in endometrial cancer should be improved

Author

A.S. Tjalsma, W. Dinjens, H. C. van Doorn, Anja Wagner, and Patricia C. Ewing-Graham

Subjects
medicine.medical_specialty, Hysterectomy, medicine.diagnostic_test, Obstetrics, business.industry, Endometrial cancer, Genetic counseling, medicine.medical_treatment, Guideline, medicine.disease, Lynch syndrome, MSH6, Germline mutation, medicine, business, Endometrial biopsy
Abstract

Introduction/Background Since 2016 routine Lynch syndrome screening (LSS) among women with endometrial cancer Objective Evaluate the implementation of the Dutch guideline to screen women with endometrial carcinoma under the age of 70 years for Lynch syndrome. Methodology From the pathology database women diagnosed with EC Results In 184 out of the 205 tumours (90%) LSS was performed (table 1). Either on the endometrial biopsy 24%, the hysterectomy (70%), or on both (6%). In 42 cases (22%) MMR protein expression was lost, in 25 cases due to hypermethylation of the MLH1 promotor. LS susceptibility was discussed with 11 of the 17 patients at risk of LS (65%), all were referred for genetic counselling. Three of them declined; eight underwent germline testing for LS after counselling. In one no germline mutation was detected, two were diagnosed with a PMS2 mutation, and five with a MSH6 mutation. Conclusion The implementation of the guideline regarding LSS has been successful, though referral for genetic counselling should be improved. Gynaecologist ought to be aware of the benefits and drawbacks of knowing mutational status, and may require training in discussing this with their patients. Disclosure Nothing to disclose.

Published
2019
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