Endometrial carcinoma in a young woman - Tracing the transition from atypical hyperplasia to polymerase epsilon-mutant cancer: A case report

Abstract

Although historically more common in peri- and postmenopausal women, there is a noticeable rise in cases of endometrial hyperplasia and cancer among younger women of childbearing age due to contemporary lifestyles. A 31-year-old, P0L0A2 woman (body mass index of 15.5 kg/m2) with a history of infertility treatment presented with complaints of abnormal uterine bleeding for 2 months. Transvaginal sonography (TVS) showed a normal uterus with an 18 mm endometrium, and dilatation and curettage revealed endometrial hyperplasia with focal atypia. She was advised to undergo a magnetic resonance imaging (MRI) pelvis, but was lost to follow-up. She re-presented after 3 months with persistent bleeding; repeat TVS showed a 13 mm endometrium, and MRI confirmed endometrial thickening. Repeat biopsy showed endometrial intraepithelial neoplasia. Although medical management with progesterone was advised, she opted for a hysterectomy with bilateral salpingectomy. Final histopathology showed endometrioid endometrial carcinoma, stage IA2, grade 1. Molecular analysis revealed a polymerase epsilon mutation, indicating a favorable prognosis. Primary treatment for endometrial hyperplasia with atypia typically involves hysterectomy, though fertility-sparing options may be considered for young patients. Furthermore, immunohistochemistry and molecular classification of endometrial carcinoma are crucial, especially in young females, as they significantly influence management and prognosis.