POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Authors :: Pasciuto MP
Felicioni L
Zampacorta C
Ferro B
Di Marino P
Primavera FC
Lucidi A
Rossetti R
Barbareschi M
Marchetti A
Buttitta F
D'Angelo E
Source :: Pathologica [Pathologica] 2023 May; Vol. 1 (1), pp. 181-185. Date of Electronic Publication: 2023 May 22.
Publication Year :: 2023
Abstract: Endometrial carcinoma (EC) harboring POLE exonuclease domain mutations occurs in 5-15% of ECs and frequently affects young women with low body mass index (BMI). It presents at early stage as high grade endometrioid histotype with intense tumor infiltrating lymphocytes and has good clinical outcomes and favorable prognosis. In this article we report the case of a 32-year-old woman with endometriod EC (EEC) exhibiting a "ultramutated" molecular profile and an excellent prognosis despite tumor size and grading. Herein, to highlight the importance of defining POLE status in ECs for both clinical and therapeutic implications for patients.<br /> (Copyright © 2023 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.)