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Mutational profile of endometrial hyperplasia and risk of progression to endometrioid adenocarcinoma

Cancer Mar 24, 2020

Russo M, Newell JM, Budurlean L, et al. - As endometrial hyperplasia is a precursor to endometrioid adenocarcinoma (EMC), the most common uterine cancer, researchers here sought for an objective test that may allow prediction of the risk of cancer progression. Endometrial biopsy specimens were obtained from a retrospective cohort of women with endometrial hyperplasia for performing next‐generation sequencing. The patient subsequently developing EMC were considered as progressing or the patient with a subsequent negative tissue sampling or no cancer during medium‐term follow‐up were considered resolving (32 patients: 15 progressing and 17 resolving). Assessment of somatic mutations in endometrial hyperplasia was performed for enrichment in progressing cases vs resolving cases, with a focus on genes commonly mutated in EMC. Outcomes revealed mutational differences between progressing and nonprogressing hyperplasia, indicating a possible predictive value of mutational analysis for the risk of progression from endometrial hyperplasia to EMC. Mutations included those in PTENPIK3CA, and FGFR2, genes commonly mutated in EMC. They identified mutations in ARID1A and MYC only in progressing hyperplasia. However, these mutation were uncommon, limiting the diagnostic sensitivity. 

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