食管鳞癌中SHANK2基因断裂及其临床意义

目的 研究SHANK2基因在食管鳞癌中的断裂情况及其与食管鳞癌患者预后的相关性.方法 利用微阵列比较基因组杂交(array-CGH)技术分析SHANK2基因在59例食管鳞癌中的断裂情况,利用荧光原位杂交(FISH)技术在124例食管鳞癌中进行验证,进一步分析该基因断裂与食管鳞癌患者临床病理参数的相关性及其与预后的关系.结果 Array-CGH结果显示,SHANK2基因在食管鳞癌中的断裂频率为16.9％(10/59).FISH验证结果显示,其断裂频率为15.3％(19/124).对全部183例肿瘤检测的情况进行临床病理参数相关性分析,结果显示SHANK2基因断裂与肿瘤分期、分化程度、淋巴结转移等均无显著相关性.但是,Kaplan-Meier生存分析结果表明,SHANK2基因断裂患者的总生存显著低于未断裂病例(P=0.009).进一步通过Cox回归分析显示,SHANK2基因断裂为一个独立的预后因素(P=0.039,HR =3.021,95％ CI:1.055 ～8.648).结论 SHANK2基因断裂可能作为食管鳞癌患者预后判断的分子标志物.

Clinical relevance of SHANK2 splitting in esophageal squamous cell carcinoma

Objective To explore the splitting and clinical significance of SHANK2 gene in esophageal squamous cell carcinoma (ESCC).Methods The technique of array-based comparative genomic hybridization (anray-CGH) was used to analyze the SHANK2 splitting in 59 primary ESCC tumors,and then performed a validation by breakapart fluorescence in-situ hybridization (FISH) in additional 124 tumors.The relationship between SHANK2 splitting and clinico-pathological parameters of all the 183 cases,as well as the prognostic value of SHANK2 splitting were examined.Results Aarray-CGH results showed that the splitting of SHANK2 was present in 16.9％ (10/ 59) of tumors.The splitting frequency validated by FISH was 15.3％ (19/124).There was no correlation between SHANK2 splitting and tumor stage,differentiation,and lymph node metastasis.However,Kaplan-Meier curves showed that the overall survival (OS) of patients with SHANK2 splitting were much shorter than those without splitting (P =0.009).Further cox regression analysis indicated that SHANK2 splitting was an independent prognostic factor (P =0.039,HR =3.021,95％ CI:1.055 ～8.648).Conclusion SHANK2 splitting might act as a prognostic marker for ESCC.