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TCGA 子宫内膜癌分类:癌肉瘤的位置。

TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma.

机构信息

Anatomic Pathology Unit, Department of Advanced Biomedical Sciences, School of Medicine, University of Naples Federico II, Naples, Italy.

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.

出版信息

Pathol Oncol Res. 2020 Oct;26(4):2067-2073. doi: 10.1007/s12253-020-00829-9. Epub 2020 May 29.

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 meta-analysis 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.

摘要

2013 年,癌症基因组图谱(TCGA)研究网络发现了子宫内膜癌的四个新的预后亚组:POLE/超高突变(POLE)、微卫星不稳定/高突变(MSI)、拷贝数低/TP53 野生型(CNL)和拷贝数高 TP53 突变型(CNH)。然而,对于罕见的子宫内膜癌组织学类型,我们知之甚少。我们旨在根据这些发现评估子宫癌肉瘤(UCS)的遗传特征。通过电子数据库搜索(截至 2019 年 7 月)进行了系统回顾和荟萃分析。纳入了所有评估 UCS 系列的 TCGA 分类的研究。对于 TCGA 亚组中的每一个,均计算了在总 UCS 数量中的总患病率。纳入了四项包含 231 名患者的研究。TCGA 亚组的总患病率分别为:POLE 亚组为 5.3%,MSI 亚组为 7.3%,CNH 亚组为 73.9%,CNL 亚组为 13.5%。CNH 亚组在 UCS 中占主导地位,而突变负荷较高的亚组(POLE 和 MSI)则较少见。UCS 似乎是 CNH 癌的优先进化。

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