Maria Paola Pasciuto, Lara Felicioni, Claudia Zampacorta, Benedetta Ferro, Pietro Di Marino, Francesca Chiara Primavera, Alessandro Lucidi, Rebecca Rossetti, Mattia Barbareschi, Antonio Marchetti, Fiamma Buttitta, Emanuela D'Angelo
{"title":"POLE exonuclease domain mutations in endometrial carcinoma: a case report.","authors":"Maria Paola Pasciuto, Lara Felicioni, Claudia Zampacorta, Benedetta Ferro, Pietro Di Marino, Francesca Chiara Primavera, Alessandro Lucidi, Rebecca Rossetti, Mattia Barbareschi, Antonio Marchetti, Fiamma Buttitta, Emanuela D'Angelo","doi":"10.32074/1591-951X-872","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"1 1","pages":"181-185"},"PeriodicalIF":4.4000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e0/cf/pathol-2023-03-181.PMC10462992.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-872","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
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.
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