Ataseven Beyhan, Tripon Denise, Rhiem Kerstin, Harter Philipp, Schneider Stephanie, Heitz Florian, Baert Thais, Traut Alexander, Pauly Nina, Ehmann Sarah, Plett Helmut, Schmutzler Rita K, du Bois Andreas
Abteilung für Gynäkologie und Gynäkologische Onkologie, Evang. Kliniken Essen-Mitte, Essen.
Klinik und Poliklinik für Frauenheilkunde und Geburtshilfe der LMU München, München.
Geburtshilfe Frauenheilkd. 2020 Sep;80(9):932-940. doi: 10.1055/a-1222-0042. Epub 2020 Sep 2.
mutations are the leading cause of hereditary epithelial ovarian cancer (EOC). The German Consortium for Hereditary Breast and Ovarian Cancer has defined inclusion criteria, which are retrievable as a checklist and facilitate genetic counselling/testing for affected persons with a mutation probability of ≥ 10%. Our objective was to evaluate the prevalence of the mutation(s) based on the checklist score (CLS). A retrospective data analysis was performed on EOC patients with a primary diagnosis treated between 1/2011 - 5/2019 at the Central Essen Clinics, where a genetic analysis result and a CLS was available. Out of 545 cases with a result (cohort A), 453 cases additionally had an extended gene panel result (cohort B). A mutation was identified in 23.3% (127/545) in cohort A, pathogenic mutations in non- genes were revealed in a further 6.2% in cohort B. In cohort A, 23.3% (127/545) of patients had a (n = 92) or (n = 35) mutation. Singular EOC (CLS 2) was present in 40.9%. The prevalence for a mutation in cohort A was 10.8%, 17.2%, 25.0%, 35.1%, 51.4% and 66.7% for patients with CLS 2, 3, 4, 5, 6 and ≥ 7 respectively. The mutation prevalence in cohort B was 15.9%, 16.4%, 28.2%, 40.4%, 44.8% and 62.5% for patients with CLS 2, 3, 4, 5, 6 and ≥ 7 respectively. The mutation prevalence in EOC patients positively correlates with a rising checklist score. Already with singular EOC, the prevalence of a mutation exceeds the required 10% threshold. Our data support the recommendation of the S3 guidelines Ovarian Cancer of offering genetic testing to all patients with EOC. Optimisation of the checklist with clear identification of the testing indication in this population should therefore be aimed for.
突变是遗传性上皮性卵巢癌（EOC）的主要病因。德国遗传性乳腺癌和卵巢癌联盟已制定了纳入标准，这些标准可作为检查表获取，便于为突变概率≥10%的患者提供遗传咨询/检测。我们的目的是根据检查表评分（CLS）评估突变的患病率。对2011年1月至2019年5月在埃森中心诊所接受初次诊断治疗的EOC患者进行回顾性数据分析，这些患者有基因分析结果和CLS。在545例有结果的病例（队列A）中，453例另外有扩展基因检测结果（队列B）。队列A中23.3%（127/545）检测到突变，队列B中另外6.2%检测到非基因的致病突变。在队列A中，23.3%（127/545）的患者有（n = 92）或（n = 35）突变。单纯性EOC（CLS 2）占40.9%。队列A中CLS为2、3、4、5、6和≥7的患者中，突变患病率分别为10.8%、17.2%、25.0%、35.1%、51.4%和66.7%。队列B中CLS为2、3、4、5、6和≥7的患者中，突变患病率分别为15.9%、16.4%、28.2%、40.4%、44.8%和62.5%。EOC患者中的突变患病率与检查表评分升高呈正相关。即使是单纯性EOC，突变患病率也超过了所需的10%阈值。我们的数据支持S3卵巢癌指南中为所有EOC患者提供基因检测的建议。因此，应致力于优化检查表，明确该人群的检测指征。
