基因的遗传变异与鼻咽癌患者邻近组织浸润及临床结局相关。

Genetic Variations of Gene Are Associated With Infiltration of Adjacent Tissues and the Clinical Outcome of Patients With Nasopharyngeal Carcinoma.

机构信息

Department of Radiology, AHEPA Hospital, Aristotle University of Thessaloniki, School of Health Sciences, Faculty of Medicine, Thessaloniki, Greece

Section of Biostatistics, Hellenic Cooperative Oncology Group, Data Office, Athens, Greece.

出版信息

Anticancer Res. 2020 Feb;40(2):677-688. doi: 10.21873/anticanres.13997.

DOI:10.21873/anticanres.13997

PMID:32014908

Abstract

BACKGROUND/AIM: The aim of the present study was to investigate the clinical significance of 7 single nucleotide polymorphisms (SNPs) of vascular endothelial growth factor A (VEGFA), endothelin receptor type A (EDNRA), nibrin (NBS1) and Fas cell surface death receptor (FAS) genes in patients with nasopharyngeal carcinoma (NPC).

PATIENTS AND METHODS

Genomic DNA was extracted from the peripheral blood specimens of 60 patients. Genotyping of 4 VEGFA polymorphisms, namely VEGFA -1154 G/A (rs1570360), -2578 A/C (rs699947), -1498 C/T (rs833061) and +936 C/T (rs3025039), as well as EDNRA SNP p.His323 (rs5333), NBS1 p.E185Q (rs1805794) and FAS -671 A/G (rs1800682) was performed by using Sanger sequencing.

RESULTS

The VEGFA +936 CC genotype was more frequent in tumors with bilateral infiltration of pterygoid plates compared to those with ipsilateral (76.9% vs. 69.6%, p=0.008) and no infiltration of pterygoid plates (76.9% vs. 68.8%, p=0.023). VEGFA -2578, VEGFA -1154 and VEGFA +936 were significantly associated with infiltration to the pterygoid processes (p=0.011, p=0.041 and p=0.032, respectively). EDNRA H323H TT genotype was marginally associated with infiltration to the ipsilateral medial pterygoid muscles (p=0.045). A trend towards longer overall survival was observed for VEGFA -2578 CC as compared to AC (HR=0.24, p=0.060).

CONCLUSION

The studied VEGFA SNPs seem to be associated with the local extension of the NPC and maybe with the clinical outcome of this patient group.

摘要

背景/目的：本研究旨在探讨血管内皮生长因子 A（VEGFA）、内皮素受体 A（EDNRA）、核孔蛋白 NBS1（NBS1）和 Fas 细胞表面死亡受体（FAS）基因的 7 个单核苷酸多态性（SNP）在鼻咽癌（NPC）患者中的临床意义。

患者与方法

从 60 例患者的外周血标本中提取基因组 DNA。采用 Sanger 测序法对 4 个 VEGFA 多态性（VEGFA-1154 G/A(rs1570360)、-2578 A/C(rs699947)、-1498 C/T(rs833061)和+936 C/T(rs3025039)）、EDNRA SNP p.His323(rs5333)、NBS1 p.E185Q(rs1805794)和 FAS-671 A/G(rs1800682)进行基因分型。

结果

与单侧（69.6%，p=0.008）和无翼板浸润（68.8%，p=0.023）相比，肿瘤双侧翼板浸润患者 VEGFA+936 CC 基因型更为常见。VEGFA-2578、VEGFA-1154 和 VEGFA+936 与翼板浸润显著相关（p=0.011、p=0.041 和 p=0.032）。EDNRA H323H TT 基因型与同侧内侧翼内肌浸润有一定的相关性（p=0.045）。与 AC 相比，VEGFA-2578 CC 患者的总生存期较长（HR=0.24，p=0.060）。