A A Chernev, E D Kravtcova, V M Nechushkina, R H Abasov, M L Filipenko, A E Druy, G A Raskin
{"title":"[Endometrial adenocarcinoma with mutations in POLE, TP53 genes and microsatellite instability].","authors":"A A Chernev, E D Kravtcova, V M Nechushkina, R H Abasov, M L Filipenko, A E Druy, G A Raskin","doi":"10.17116/patol20248606158","DOIUrl":null,"url":null,"abstract":"<p><p>The molecular classification of endometrial cancer developed by The Cancer Genome Atlas project (TCGA, 2013) is currently actively used in gynecological oncology. According to it, endometrial carcinoma is divided into four molecular subtypes: <i>POLE</i>-mutated, MMR deficient (dMMR), <i>TP53</i>-aberrant and unspecified. Endometrial cancer samples belonging to the dMMR and <i>POLE</i>-mutant types are characterized by specific genetic profiles reflecting the hyper- and ultramutant phenotypes of the tumor. At the same time <i>POLE</i>-mutated endometrial carcinomas recur rarely and exhibit the excellent prognosis. Here we report the rare case of 65 y.o. female patient with endometrioid carcinoma sharing immunohistochemical and molecular features of <i>TP53</i>-aberrant, MMR deficient and <i>POLE</i>-mutated subtypes.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"86 6","pages":"58-62"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arkhiv patologii","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17116/patol20248606158","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The molecular classification of endometrial cancer developed by The Cancer Genome Atlas project (TCGA, 2013) is currently actively used in gynecological oncology. According to it, endometrial carcinoma is divided into four molecular subtypes: POLE-mutated, MMR deficient (dMMR), TP53-aberrant and unspecified. Endometrial cancer samples belonging to the dMMR and POLE-mutant types are characterized by specific genetic profiles reflecting the hyper- and ultramutant phenotypes of the tumor. At the same time POLE-mutated endometrial carcinomas recur rarely and exhibit the excellent prognosis. Here we report the rare case of 65 y.o. female patient with endometrioid carcinoma sharing immunohistochemical and molecular features of TP53-aberrant, MMR deficient and POLE-mutated subtypes.
期刊介绍：
The journal deals with original investigations on pressing problems of general pathology and pathologic anatomy, newest research methods, major issues of the theory and practice as well as problems of experimental, comparative and geographic pathology. To inform readers latest achievements of Russian and foreign medicine the journal regularly publishes editorial and survey articles, reviews of the most interesting Russian and foreign books on pathologic anatomy, new data on modern methods of investigation (histochemistry, electron microscopy, autoradiography, etc.), about problems of teaching, articles on the history of pathological anatomy development both in Russia and abroad.
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