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

Naina Kumar, Kanikaram Poojitha, Jitendra Singh Nigam, Mishu Mangla
In: Indian Journal of Case Reports · 2026 · vol. 12(2) , pp. 82–85 · doi:10.32677/ijcr.v12i2.7971 · W7134891278
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This case report details a young woman who progressed from atypical endometrial hyperplasia to stage IA2 grade 1 endometrioid endometrial carcinoma with a favorable prognosis polymerase epsilon mutation.

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This case report describes a 31-year-old woman with abnormal uterine bleeding and infertility treatment history who was initially found on dilation and curettage to have endometrial hyperplasia with focal atypia, with subsequent evaluation after persistent bleeding leading to repeat biopsy showing endometrial intraepithelial neoplasia. She was advised MRI and medical management with progesterone but ultimately underwent hysterectomy with bilateral salpingectomy, and final pathology revealed endometrioid endometrial carcinoma, stage IA2, grade 1, with a polymerase epsilon mutation identified on molecular analysis. The authors note that immunohistochemistry and molecular classification are important in young patients because they influence management and prognosis, but the main limitation is that this is a single-patient report with limited generalizability. This paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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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.
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Endometrial carcinoma in a young woman - Tracing the transition from atypical hyperplasia to polymerase epsilon-mutant cancer: A case report DOI: https://doi.org/10.32677/ijcr.v12i2.7971Keywords: Endometrial hiperplasia, Endometrial intraepithelial neoplasia, Endometroid endometrial carcinoma, Hysterectomy, ProgesteroneAbstract 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. Downloads Downloads Published Issue Section License Copyright (c) 2026 Naina Kumar, Kanikaram Poojitha, Jitendra Singh Nigam, Mishu Mangla This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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