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卵巢癌的新进展:遵循2020年世界卫生组织女性生殖器官肿瘤新分类的综合形态学和分子分析

What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors.

作者信息

De Leo Antonio, Santini Donatella, Ceccarelli Claudio, Santandrea Giacomo, Palicelli Andrea, Acquaviva Giorgia, Chiarucci Federico, Rosini Francesca, Ravegnini Gloria, Pession Annalisa, Turchetti Daniela, Zamagni Claudio, Perrone Anna Myriam, De Iaco Pierandrea, Tallini Giovanni, de Biase Dario

机构信息

Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Via Massarenti 9, 40138 Bologna, Italy.

Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna/Azienda USL di Bologna, 40138 Bologna, Italy.

出版信息

Diagnostics (Basel). 2021 Apr 14;11(4):697. doi: 10.3390/diagnostics11040697.

Abstract

Ovarian carcinomas represent a heterogeneous group of neoplasms consisting of separate entities with distinct risk factors, precursor lesions, pathogenesis, patterns of spread, molecular profiles, clinical course, response to chemotherapy, and outcomes. The histologic subtype and the related molecular features are essential for individualized clinical decision-making. The fifth edition of the World Health Organization classification of tumors of the female genital tract divides ovarian carcinomas into at least five main and distinct types of ovarian carcinomas: high-grade serous carcinoma, low-grade serous carcinoma, endometrioid carcinoma, clear cell carcinoma, and mucinous carcinoma. Molecular pathology has improved the knowledge of genomic landscape of ovarian carcinomas identifying peculiar alterations for every histologic subtype. It is well-known that high-grade and low-grade serous carcinomas are separate entities with entirely different morphologic and molecular characteristics. and mutations are typical of high-grade serous carcinoma, whereas and mutations frequently occur in low-grade serous carcinoma. Endometrioid and clear cell carcinomas are frequently associated with endometriosis. Endometrioid tumors are characterized by β-catenin alterations, microsatellite instability, and and mutations, while mutations occur in both endometrioid and clear cell carcinomas. Mucinous carcinomas are uncommon tumors associated with copy-number loss of and alterations and metastasis from other sites should always be considered in the differential diagnosis.

摘要

卵巢癌是一组异质性肿瘤,由具有不同危险因素、前驱病变、发病机制、扩散模式、分子特征、临床病程、化疗反应及预后的不同实体组成。组织学亚型及相关分子特征对于个体化临床决策至关重要。世界卫生组织女性生殖道肿瘤分类第五版将卵巢癌至少分为五种主要且不同类型:高级别浆液性癌、低级别浆液性癌、子宫内膜样癌、透明细胞癌和黏液性癌。分子病理学增进了对卵巢癌基因组格局的认识,确定了每种组织学亚型的特殊改变。众所周知,高级别和低级别浆液性癌是具有完全不同形态和分子特征的不同实体。TP53和BRCA1/2突变是高级别浆液性癌的典型特征,而KRAS和BRAF突变常见于低级别浆液性癌。子宫内膜样癌和透明细胞癌常与子宫内膜异位症相关。子宫内膜样肿瘤的特征是β-连环蛋白改变、微卫星不稳定性以及PIK3CA和ARID1A突变,而PPP2R1A突变在子宫内膜样癌和透明细胞癌中均有发生。黏液性癌是罕见肿瘤,与9号和19号染色体拷贝数缺失及KRAS改变相关,鉴别诊断时应始终考虑来自其他部位的转移。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df32/8070731/e3f23ee1a5dd/diagnostics-11-00697-g001.jpg

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