Abstract
OBJECTIVE: Women with Lynch syndrome have a risk up to 40-60% of developing endometrial cancer, which is higher than their risk of developing colorectal or ovarian cancer. To date, no data on the outcomes of patients with Lynch syndrome diagnosed with non-endometrioid endometrial cancer are available. The goal of this study was to evaluate the outcome of patients with Lynch syndrome diagnosed with non-endometrioid endometrial cancer. METHODS: Data from consecutive patients diagnosed with Lynch syndrome and with a histological diagnosis of non-endometrioid endometrial cancer were retrospectively collected in two referral institutes in Italy. A case-control comparison (applying a propensity matching algorithm) was performed in order to compare patients with proven Lynch syndrome and controls. Inclusion criteria were: (a) histologically-proven endometrial cancer; (b) detection of a germline pathogenic variant in one of the MMR genes; (c) adequate follow-up. Only carriers of pathogenic or likely pathogenic variants (ie, class 5 and 4 according to the InSiGHT classification) were included in the study. Survival outcomes were assessed using KaplanMeier and Cox models. RESULTS: Overall, 137 patients with Lynch syndrome were collected. Mean patient age was 49.2 (10.9) years. Genes involved in the Lynch syndrome included MLH1, MSH2, and MSH6 in 43%, 39%, and 18% of cases, respectively. The study population included 27 patients with non-endometrioid endometrial cancer, who were matched 1:2 with patients with sporadic cancers using a propensity matching algorithm. After a median follow-up of 134 months (range 1-295), 2 (7.4%) of the 27 patients developed recurrent disease (3 and 36 months) and subsequently died of disease (7 and 91 months). Patients diagnosed with Lynch syndrome experienced better disease-free survival (HR 7.86 (95% CI 1.79 to 34.5); p=0.006) and overall survival (HR 5.33 (95% CI 1.18 to 23.9); p=0.029) than controls. CONCLUSIONS: Non-endometrioid endometrial cancer occurring in patients with Lynch syndrome might be associated with improved oncologic outcomes compared with controls. Genetic/molecular profiling should be investigated in order to better understand the mechanism underlying the prognosis.
Original language | English |
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Pages (from-to) | 56-61 |
Number of pages | 6 |
Journal | International Journal of Gynecological Cancer |
Volume | 30 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2020 |
Keywords
- Adult
- Female
- Humans
- Middle Aged
- Survival Rate
- Aged
- Disease-Free Survival
- Retrospective Studies
- Cohort Studies
- Case-Control Studies
- *endometrial neoplasms
- *Lynch syndrome II
- *uterine neoplasms
- Carcinoma, Endometrioid/*genetics/*pathology/surgery
- Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics/*pathology/surgery
- DNA-Binding Proteins/genetics
- Endometrial Neoplasms/*genetics/*pathology/surgery
- MutL Protein Homolog 1/genetics
- MutS Homolog 2 Protein/genetics