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Molecular Pathology of Endometrial Tumors

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Molecular Surgical Pathology


In the Western world, endometrial carcinoma is the most common malignant tumor of the female genital tract. The annual incidence has been estimated at 10–20 per 100,000 women. Several histologic types are recognized: the estrogen-related (type I, endometrioid) and the nonestrogen-related (type II, serous), being the two most frequent of them. The clinicopathological differences are paralleled by specific genetic alterations, with endometrioid carcinoma showing microsatellite instability and mutations in PTEN, PIK3CA, KRAS, and CTNNB1 (b-catenin), and serous carcinoma exhibiting TP53 mutations and chromosomal instability. Women with hereditary nonpolyposis colorectal carcinoma (HNPCC) have germline mutations in one of the DNA mismatch repair genes and frequently develop endometrioid endometrial carcinomas. Some nonendometrioid carcinomas probably arise from preexisting endometrioid carcinomas because of tumor progression and, not surprisingly, some tumors exhibit combined or mixed features at the clinical, pathological, and molecular levels. The TCGA-based molecular classification has emerged as a good tool for stratifying patients according to prognosis. Four groups were identified: (1) Ultramutated (POLE-mutated), (2) Tumors with microsatellite instability/mismatch repair deficiency, (3) Low copy number tumors/Tumors with nonspecific molecular profile, and (4) High copy number tumors. A TCGA-based surrogate has been developed to bring that molecular classification into clinical practice. There are several promising targeted therapies, including c-erbB2 and immune checkpoint inhibitors.

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Correspondence to Xavier Matias-Guiu .

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Gatius, S., Eritja, N., Matias-Guiu, X. (2023). Molecular Pathology of Endometrial Tumors. In: Cheng, L., Netto, G.J., Eble, J.N. (eds) Molecular Surgical Pathology. Springer, Cham.

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  • Print ISBN: 978-3-031-35117-4

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