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
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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| URI: | http://kups.ub.uni-koeln.de/id/eprint/59746 |
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