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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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
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author 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
author_facet 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
author_sort Pasciuto, Maria Paola
collection PubMed
description 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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spelling pubmed-104629922023-08-30 POLE exonuclease domain mutations in endometrial carcinoma: a case report 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 Pathologica 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 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. Pacini Editore srl 2023-05-22 /pmc/articles/PMC10462992/ /pubmed/37216304 http://dx.doi.org/10.32074/1591-951X-872 Text en © 2023 Copyright by Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access journal distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license: the work can be used by mentioning the author and the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en
spellingShingle Case Report
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
POLE exonuclease domain mutations in endometrial carcinoma: a case report
title POLE exonuclease domain mutations in endometrial carcinoma: a case report
title_full POLE exonuclease domain mutations in endometrial carcinoma: a case report
title_fullStr POLE exonuclease domain mutations in endometrial carcinoma: a case report
title_full_unstemmed POLE exonuclease domain mutations in endometrial carcinoma: a case report
title_short POLE exonuclease domain mutations in endometrial carcinoma: a case report
title_sort pole exonuclease domain mutations in endometrial carcinoma: a case report
topic Case Report
url 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
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