Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers

Lynch syndrome (LS) is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes, predisposing female carriers for endometrial cancer (EC) and ovarian cancer (OC). Since gynecological LS surveillance guidelines are based on little evidence, we assessed its outcomes. Data regarding gynecological tumors, surveillance, and (risk-reducing) surgery were collected from female LS carriers diagnosed in our center since 1993. Of 505 female carriers, 104 had a gynecological malignancy prior to genetic LS diagnosis. Of 264 carriers eligible for gynecological management, 164 carriers gave... Mehr ...

Verfasser: Ellis L. Eikenboom
Helena C. van Doorn
Winand N. M. Dinjens
Hendrikus J. Dubbink
Willemina R. R. Geurts-Giele
Manon C. W. Spaander
Carli M. J. Tops
Anja Wagner
Anne Goverde
Dokumenttyp: Text
Erscheinungsdatum: 2021
Verlag/Hrsg.: Multidisciplinary Digital Publishing Institute
Schlagwörter: Lynch syndrome / gynecological surveillance / endometrial cancer / ovarian cancer / DNA mismatch repair / risk-reducing surgery / MLH1 / MSH2 / MSH6 / PMS2
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26636310
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://doi.org/10.3390/cancers13030459

Lynch syndrome (LS) is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes, predisposing female carriers for endometrial cancer (EC) and ovarian cancer (OC). Since gynecological LS surveillance guidelines are based on little evidence, we assessed its outcomes. Data regarding gynecological tumors, surveillance, and (risk-reducing) surgery were collected from female LS carriers diagnosed in our center since 1993. Of 505 female carriers, 104 had a gynecological malignancy prior to genetic LS diagnosis. Of 264 carriers eligible for gynecological management, 164 carriers gave informed consent and had available surveillance data: 38 MLH1, 25 MSH2, 82 MSH6, and 19 PMS2 carriers (median follow-up 5.6 years). Surveillance intervals were within advised time in >80%. Transvaginal ultrasound, endometrial sampling, and CA125 measurements were performed in 76.8%, 35.9%, and 40.6%, respectively. Four symptomatic ECs, one symptomatic OC, and one asymptomatic EC were diagnosed. Endometrial hyperplasia was found in eight carriers, of whom three were symptomatic. Risk-reducing surgery was performed in 73 (45.5%) carriers (median age 51 years), revealing two asymptomatic ECs. All ECs were diagnosed in FIGO I. Gynecological management in LS carriers varied largely, stressing the need for uniform, evidence-based guidelines. Most ECs presented early and symptomatically, questioning the surveillance benefit in its current form.