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子宫内膜淋巴上皮瘤样癌中PIK3CA和p53基因突变的二代测序研究

PIK3CA and p53 Mutations by Next Generation Sequencing in Lymphoepithelioma-Like Carcinoma of the Endometrium.

作者信息

Bienfait Lucie, D'Haene Nicky, Catteau Xavier, Noël Jean-Christophe

机构信息

Department of Pathology, Erasme University Hospital/Curepath, Free University of Brussels (ULB), Brussels, Belgium.

出版信息

Case Rep Pathol. 2018 May 3;2018:5894589. doi: 10.1155/2018/5894589. eCollection 2018.

Abstract

Lymphoepithelioma-like carcinoma of the endometrium is a very rare variant of endometrial carcinoma characterized by syncytial nests of pleomorphic epithelial cells and heavy infiltration of the stroma by lymphocytes (in particular CD8 cytotoxic T-lymphocytes) and plasma cells. Until now, only five cases have been characterized in this location. This report describes the clinicopathological and the molecular features of this unusual tumor. In particular, using the next generation sequencing (NGS) technique, we have demonstrated that this tumor could be associated with PIK3CA and p53 gene mutations. These data have not been reported to date and suggest that lymphoepithelioma-like carcinoma of the endometrium shares common molecular features with high grade endometrioid and serous-like endometrial carcinoma which are associated with poor outcome. Nevertheless, in endometrial lymphoepithelioma-like carcinoma, the alterations on cell cycle, apoptosis, and/or senescence secondary to p53 mutations could potentially be counterbalanced by the antitumoral response induced by CD8 cytotoxic T-lymphocytes numerous in these tumors.

摘要

子宫内膜淋巴上皮瘤样癌是子宫内膜癌中一种非常罕见的变异类型,其特征为多形性上皮细胞的合体细胞巢以及淋巴细胞(特别是CD8细胞毒性T淋巴细胞)和浆细胞对间质的大量浸润。到目前为止,该部位仅有5例病例得到了特征描述。本报告描述了这种不寻常肿瘤的临床病理和分子特征。特别是,使用下一代测序(NGS)技术,我们已经证明这种肿瘤可能与PIK3CA和p53基因突变有关。这些数据迄今尚未见报道,提示子宫内膜淋巴上皮瘤样癌与高级别子宫内膜样癌和浆液性子宫内膜癌具有共同的分子特征,而这些肿瘤的预后较差。然而,在子宫内膜淋巴上皮瘤样癌中,p53突变继发的细胞周期、凋亡和/或衰老改变可能会被这些肿瘤中大量存在的CD8细胞毒性T淋巴细胞诱导的抗肿瘤反应所抵消。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbb6/5960570/a0a29075d128/CRIPA2018-5894589.001.jpg

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