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病例报告:子宫内膜中肾样腺癌中PPP2R1A突变的首例报告。

Case Report: The first report of PPP2R1A mutations in mesonephric-like adenocarcinoma of endometrial carcinoma.

作者信息

Cai Lei, Yang Chenmin, Gu Yijin, Dong Lei, Feng Weiwei

机构信息

Department of Gynecology and Obstetrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

出版信息

Front Oncol. 2023 Dec 4;13:1212648. doi: 10.3389/fonc.2023.1212648. eCollection 2023.

Abstract

We performed clinical treatment, histopathology, immunohistochemistry and molecular analyses. To compare with the published literature and have a reference overview. A 57-year-old woman and a 77-year-old woman presented with mesonephric-like adenocarcinoma of endometrium at an early clinical stage. The former had no deep myometrial infiltration and no regional lymph node involvement. The latter had deep myometrial infiltration, presence of LVSI and no regional lymph node involvement. Both of the tumor cells were positive for PAX8, GATA-3,CD-10,TTF-1,AE1/AEs,Ki67,P53 and P16 in immunohistochemical staining (IHC)Test. Primary tumors were examined for gene mutations by next generation sequencing. The former was identified KRAS mutation. The latter had KRAS,PIKCA and PPP2R1A mutations. To our knowledge, it is the first time that PPP2R1A(protein phosphatase 2,regulatory subunit A,α) mutation in MLA is reported in English literature.

摘要

我们进行了临床治疗、组织病理学、免疫组织化学和分子分析。为了与已发表的文献进行比较并获得参考综述。一名57岁女性和一名77岁女性在临床早期表现为子宫内膜中肾样腺癌。前者无肌层深部浸润且无区域淋巴结受累。后者有肌层深部浸润、存在淋巴血管间隙浸润且无区域淋巴结受累。在免疫组织化学染色(IHC)检测中,两种肿瘤细胞的PAX8、GATA-3、CD-10、TTF-1、AE1/AE3、Ki67、P53和P16均呈阳性。通过下一代测序对原发性肿瘤进行基因突变检测。前者检测到KRAS突变。后者有KRAS、PIKCA和PPP2R1A突变。据我们所知,这是英文文献中首次报道MLA中PPP2R1A(蛋白磷酸酶2,调节亚基A,α)突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fa0/10725978/6bbd8e2fe816/fonc-13-1212648-g001.jpg

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