Pauly, Nina ORCID: 0000-0003-1726-8997, Baert, Thais, Schmutzler, Rita, du Bois, Andreas, Schneider, Stephanie, Rhiem, Kerstin, Schoemig-Markiefka, Birgid, Siemanowski, Janna, Heikaus, Sebastian, Traut, Alexander, Heitz, Florian, Prader, Sonia, Ehmann, Sarah, Harter, Philipp and Ataseven, Beyhan (2021). Modern day screening for Lynch syndrome in endometrial cancer: the KEM experience. Arch. Gynecol. Obstet., 304 (4). S. 975 - 985. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

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Abstract

Purpose Current guidelines for Lynch syndrome detection in endometrial cancer (EC) patients rely either on risk evaluation, based on personal/family history, or detection of mismatch repair (MMR) deficiency on tumor tissue. We present a combined screening algorithm for Lynch syndrome. Methods In this study, 213 consecutive patients treated for EC at Kliniken Essen-Mitte between 2014 and 2018 were included. Personal/family history was evaluated by the Amsterdam II, revised Bethesda/German-DKG criteria and prediction model PREMM5. MMR testing was performed by immunohistochemistry (IHC) and/or polymerase chain reaction (PCR) based microsatellite analysis on tumor tissue. MLH1 promoter methylation analysis was performed in case of MLH1 loss or microsatellite instability. Results Based on personal/family history 2/213 (Amsterdam II), 31/213 (revised Bethesda/German-DKG) and 149/213 (PREMM5) patients were identified as at risk for Lynch syndrome. MMR analysis was performed by IHC in 51.2%, by PCR in 32.4%, and in 16.4% of patients both methods were used. MMR deficiency was detected in 20.6% (44/213). Methylation analysis was performed in 27 patients of whom, 22 (81.4%) showed MLH1 promoter hypermethylation. Only 9% of MMR deficient patients were identified as at risk for Lynch syndrome by the revised Bethesda/German-DKG criteria. A pathogenic germline mutation was discovered in 3 out of 20 patients that underwent genetic testing. None of these patients were younger than 50 years or had a family history of Lynch syndrome-associated malignancies. Conclusion General MMR assessment is a feasible strategy to improve the detection of Lynch Syndrome in patients with EC.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Pauly, NinaUNSPECIFIEDorcid.org/0000-0003-1726-8997UNSPECIFIED
Baert, ThaisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, RitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
du Bois, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhiem, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoemig-Markiefka, BirgidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siemanowski, JannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heikaus, SebastianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Traut, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heitz, FlorianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Prader, SoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehmann, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harter, PhilippUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ataseven, BeyhanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-597461
DOI: 10.1007/s00404-021-06006-w
Journal or Publication Title: Arch. Gynecol. Obstet.
Volume: 304
Number: 4
Page Range: S. 975 - 985
Date: 2021
Publisher: SPRINGER HEIDELBERG
Place of Publication: HEIDELBERG
ISSN: 1432-0711
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Obstetrics & GynecologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/59746

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