Endometrial adenocarcinoma with mutations in POLE, TP53 genes and microsatellite instability

Chernev AA, Kravtcova ED, Nechushkina VM, Abasov RH, Filipenko ML, Druy AE, Raskin GA. Endometrial adenocarcinoma with mutations in POLE, TP53 genes and microsatellite instability. Russian Journal of Archive of Pathology. 2024;86(6):58‑62. (In Russ.)
https://doi.org/10.17116/patol20248606158

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)

Использование инфографики авторами научных работ

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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.

Keywords:

endometrial carcinoma

POLE

TP53

microsatellite instability

Authors:

Chernev A.A.

Medical Institute named after Berezin Sergey

ORCID: 0009-0003-7315-0878

Kravtcova E.D.

Medical Institute named after Berezin Sergey

ORCID: 0000-0003-1920-9798

Nechushkina V.M.

Eurasian Federation of Oncology;
Privolzhsky Research Medical University

ORCID: 0000-0002-1855-9692

Abasov R.H.

Medical Institute named after Berezin Sergey;
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

ORCID: 0000-0001-9179-8430

Filipenko M.L.

Institute of Chemical Biology and Fundamental Medicine

ORCID: 0000-0002-8950-5368

Druy A.E.

Medical Institute named after Berezin Sergey;
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

ORCID: 0000-0003-1308-8622

Raskin G.A.

Medical Institute named after Berezin Sergey;
St. Petersburg State University

ORCID: 0000-0002-7522-6552

Received:

27.05.2024

Accepted:

26.06.2024

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References:

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