食管癌分子分型的遗传学基础  

Genomic Characterization of Molecular Classification in Oesophageal Carcinoma

作　　者：李利艳[1] 敬佩 李荣耀 李恩民[1] LI Li-Yan;JING Pei;LI Rong-Yao;LI En-Min(The Key Laboratory of Molecular Biology for High Cancer Incidence Coastal Chaoshan Area,Shantou University Medical College,Shantou,China,515041)

机构地区：[1]汕头大学医学院潮汕沿海癌症高发区分子生物学重点实验室,广东汕头515041

出　　处：《食管疾病》2021年第2期135-139,146,共6页Journal of Esophageal Diseases

摘　　要：食管内镜结合活检病理是目前诊断食管癌的“金标准”。根据食管癌的组织病理学特征判断食管癌的分类、分级和分期,可用于指导治疗方案的制定和预后的评估。然而,食管癌存在明显的异质性,涉及基因组、表观遗传组、转录组、蛋白质组和代谢组等异常改变,故传统的诊断方式已不能满足临床需求。以癌细胞的分子特征为基础的分子分型,能够更准确反映食管癌发生发展的本质特征。因此,在病理组织学基础上,结合食管癌相关遗传基因的改变,建立食管癌分子分型标准,对食管癌的诊断、预后预警和治疗方案的选择均有着重要的意义。本文基于食管癌基因组研究的最新进展,从基因突变、拷贝数变异、单核苷酸多态性及融合基因等方面综述食管癌相关遗传基因的改变,并讨论其与食管癌分子分型的相关性。Esophageal endoscopy combined with biopsy pathology is the current"gold standard"for the diagnosis of esophageal cancer.Basis of the histopathological characteristics of esophageal cancer,the classification and staging of esophageal cancer could guide the treatment and prognosis of the patients.However,due to the obvious heterogeneity of esophageal cancer,involving abnormal changes in genome,epigenomics,transcriptome,proteome and metabolome,traditional diagnostic methods could no longer meet the clinical needs of esophageal cancer.Molecular classification based on the molecular characteristics of cancer cells could accurately suggest the intrinsic of the development of esophageal cancer.Therefore,on the basis of histopathology,combined with the changes of genetic genes related to esophageal cancer,the establishment of molecular classification criteria for esophageal cancer is of great significance for the diagnosis,prognosis and treatment of esophageal cancer.Here,in view of four aspects including gene mutation,copy number variation,single nucleotide polymorphism and fusion gene,the correlation between the changes of esophageal cancer-related genetic genes and the molecular classification of esophageal cancer are discussed.

关 键 词：食管癌 分子分型 遗传学改变 

分 类 号：Q354[生物学—遗传学]