POLE exonuclease domain mutations in endometrial carcinoma: a case report

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...

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Detalles Bibliográficos
Autores principales: Pasciuto, Maria Paola, Felicioni, Lara, Zampacorta, Claudia, Ferro, Benedetta, Di Marino, Pietro, Primavera, Francesca Chiara, Lucidi, Alessandro, Rossetti, Rebecca, Barbareschi, Mattia, Marchetti, Antonio, Buttitta, Fiamma, D’Angelo, Emanuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462992/
https://www.ncbi.nlm.nih.gov/pubmed/37216304
http://dx.doi.org/10.32074/1591-951X-872
Descripción
Sumario: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.

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