食管癌分子标记物研究进展

Research progress in molecular markers of esophageal cancer

食管癌(EC)的发病率及病死率在全球位居前列,尤其在中国,食管鳞癌(ESCC)患者约占全球总数的90%.因此,探讨EC发病机制,寻找新的靶向治疗成为目前的研究热点.EC依据病理类型可分为ESCC及食管腺癌(EAC),由于二者发病机制不同,本文拟从这两方面分别进行阐述.目前针对EC分子标记物的研究,主要集中在基因突变、基因拷贝数改变(CNV)、杂合性丢失(LOH)以及表达量变化四个方面,不同的改变常常提示着疾病的不同阶段,也预示着不同的治疗反应性及无病生存期.EAC方面,我们对P53、EGFR、ERBB2、CCND1、FGF3/INT2、1q21 LOH、1q23 LOH、CDKN2A、APC、CDH1、COX-2、VEGF、Cyclin D1和Ki-67等标记物在诊断及治疗中的应用价值进行了总结;而在ESCC方面,我们对PIK3CA、NRF2、EGFR、CCND1、MDM2、TERC、CPT1A、2p LOH、3p LOH、17p LOH、CDKN2A、MGMT、TFF1、REPRIMO、MLH1、TPEF、CDH1、COX-2、VEGF、E-cadherin、HER-2等标记物进行了综述.本文旨在为临床EC的诊疗工作提供可行性建议,同时为国内广大学者在EC分子标记物领域的研究提供参考.

Esophageal cancer （EC） is one of the most common diagnosed carcinomas with a high ranked mortality worldwide. Especially in China, ESCC patients account for 90% of the global total. The mechanism of EC and discovery of its new drug target has become a research focus. EC can be divided into two subtypes： esophageal adenocarcinoma （EAC） and esophageal squamous cell carcinoma （ESCC）. Considering the mechanisms of carcinogenesis are different between these two subtypes, we displayed cantents of EAC and ESCC separately. Mutations, copy number variation （CNV）, loss of heterogeneity （LOH）, and changes of expression in EC were all included in this review. For the studies of EAC, the diagnostic value of P53, EGFR, ERBB2, CCND1, FGF3/INT2, lq21 LOH, lq23 LOH, CDKN2A, APC, CDH1, COX-2, VEGF, Cylin D1 and Ki-67 were summarized. For the studies of ESCC, the diagnostic value of PIK3CA, NRF2, EG-FR, CCNDI, MDM2, TERC, CPT1A, 2p LOH, 3p LOH, 17p LOH, CDKN2A, MGMT, TFF1, REPRIMO, MLH1, TPEF, CDH1, COX-2, VEGF, E-cadherin, HER-2 were summarized. In this article, the role of the above-mentioned biomarkers in cancer diagnosis, prognosis and treatment response were investigated, which might shed light on screening and treatment of EC.