TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma
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REVIEW
TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma Antonio Travaglino 1 & Antonio Raffone 2 & Annarita Gencarelli 1 & Antonio Mollo 2 & Maurizio Guida 2 & Luigi Insabato 1 & Angela Santoro 3 & Gian Franco Zannoni 3 & Fulvio Zullo 2 Received: 29 November 2019 / Accepted: 21 May 2020 # Arányi Lajos Foundation 2020
Abstract In 2013, The Cancer Genome Atlas (TCGA) Research Network found four novel prognostic subgroups of endometrial carcinoma: POLE/ultramutated (POLE), microsatellite-instable/hypermutated (MSI), copy-number-low/TP53-wild-type (CNL), and copy-number-highTP53-mutant (CNH). However, poor is known regarding uncommon histotypes of endometrial cancer. We aimed to assess the genetic profile of uterine carcinosarcoma (UCS) on the light of these findings. A systematic review and metaanalysis was performed through electronic databases searching (up to July 2019). All studies assessing UCS series for the TCGA classification were included. For each TCGA subgroup, pooled prevalence on the total UCS number was calculated. Four studies with 231 patients were included. Pooled prevalence of the TCGA subgroups were: 5.3% for the POLE subgroup, 7.3% for the MSI subgroup, 73.9% for the CNH subgroup, 13.5% for the CNL subgroup. The CNH subgroup predominates in UCS, while subgroups with high mutational load (POLE and MSI) are less common. UCS appears as a preferential evolution of CNH carcinomas. Keywords Cancer . Endometrium . Prognosis . Risk assessment . PROMISE . Treatment . Endometrium
Introduction Endometrial carcinoma is the most common gynecological malignancy in developed countries [1–5]. The management of patients with endometrial carcinoma is mainly based on pathologic findings, such as histotype, tumor grade and Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12253-020-00829-9) contains supplementary material, which is available to authorized users. * Antonio Raffone [email protected] 1
Anatomic Pathology Unit, Department of Advanced Biomedical Sciences, School of Medicine, University of Naples Federico II, Naples, Italy
2
Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy
3
Pathology Unit, Department of Woman and Child Health, Agostino Gemelli University Polyclinic, Catholic University of the Sacred Heart, Rome, Italy
stage and lymph-vascular space invasion [6]. However, pathologic assessment has shown poor reproducibility, and many authors think that this limitation is at the basis of the increased mortality observed in endometrial cancer in the last decades [7, 8]. Since the publication of The Cancer Genome Atlas (TCGA) data in 2013, it has been shown that specific molecular features have a major prognostic value in endometrial carcinoma. In fact, endometrial carcinomas can be consistently subdivided into four prognostic molecular subgroups: POLE/ultramutated (POLE), microsatellite
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