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唾液腺肿瘤基因图谱的异质性及其在当前治疗中的关键作用。

Heterogeneity of Genetic Landscapes in Salivary Gland Tumors and Their Critical Roles in Current Management.

作者信息

Yousaf Anam, Sulong Sarina, Abdullah Baharudin, Lazim Norhafiza Mat

机构信息

Department of Molecular Pathology, Pakistan Kidney and Liver Institute & Research Center, Lahore, Pakistan.

Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia.

出版信息

Medeni Med J. 2022 Jun 23;37(2):194-202. doi: 10.4274/MMJ.galenos.2022.63139.

Abstract

Salivary gland neoplasms (SGNs) are rare and heterogeneous tumors in the head and neck region. Although progress has been recently made in revealing the molecular landscape of salivary glands tumors, it is limited and appears to be the tip of the iceberg. Some genetic aberrations include chromosomal translocations, such as CRTC1/3-MAML2 in mucoepidermoid carcinoma, g MYB-NFIB gene fusions in adenoid cystic carcinoma, and PLAG1-HMGA2 gene changes in pleomorphic adenoma and carcinoma ex pleomorphic adenoma. These chromosomal translocations provide fresh insights into the molecular etiology of diverse SGNs and aid in their classification and in approaching treatment. In future, these genetic variations may serve as critical tools for diagnosing salivary gland tumors and optimizing the management as well as prognosis of patients. This review presents the most recent advances in the molecular pathology of salivary gland cancers, with an emphasis on distinguishing molecular features that can be used for optimizing current patient management.

摘要

涎腺肿瘤(SGNs)是头颈部罕见的异质性肿瘤。尽管最近在揭示涎腺肿瘤的分子格局方面取得了进展,但仍很有限,似乎只是冰山一角。一些基因畸变包括染色体易位,如黏液表皮样癌中的CRTC1/3-MAML2、腺样囊性癌中的MYB-NFIB基因融合,以及多形性腺瘤和多形性腺瘤癌变中的PLAG1-HMGA2基因改变。这些染色体易位为各种涎腺肿瘤的分子病因提供了新的见解,并有助于其分类和治疗。未来,这些基因变异可能成为诊断涎腺肿瘤以及优化患者管理和预后的关键工具。本综述介绍了涎腺癌分子病理学的最新进展,重点是区分可用于优化当前患者管理的分子特征。

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