Molecular profiling of endometrial cancer in Martinique reveals frequent CCNE1 amplification in poor prognosis tumors

Abstract

Abstract Purpose In Martinique, there is an unmet need in EC management. Although the incidence rate is similar to that in mainland France, the mortality rate is higher, potentially due to the over-incidence of high-grade tumors. Recently, we reported CCNE1 amplification in 70% of these tumors which have a poor prognosis. This alteration has been observed in non-endometrioid subtypes of African American women. To elucidate the over-incidence of poor prognosis EC in Martinique, we aim to describe molecular profiles especially CCNE1 amplification of a cohort of all patient diagnosed between January 2023 and June 2024. Methods CCNE1 amplification status was determined using digital PCR. We also performed the analysis of POLE , MMR and TP53 to classified tumors in current molecular classification. A total of 55 patients were included in our study, revealing a different distribution of biomarkers than described in the literature. Results We reported an over-incidence of TP53 mutations and CCNE1 amplification. Conversely, the prevalence of POLE mutations was lower. In this study, non-endometrioid subtypes were particularly associated with CCNE1 amplification that is consistent with previous studies. The molecular classification observed in our cohort is consistent with findings in populations of African descent. The higher CCNE1 amplification rate mirrors those seen in these populations. Conclusion Given the ethnic origin of the Martinique population, these data suggest that CCNE1 amplification may be linked to African genetic heritage and could explain the over-incidence of non-endometrioid subtypes in these populations. Furthermore, our study contributes to addressing racial disparities in endometrial cancer outcomes by providing crucial insights into the genetic factors that may influence the prognosis of African-descended populations.