血管生成单核苷酸多态性在胸腺恶性肿瘤和胸腺良性病变中的作用。

The role of angiogenetic single-nucleotide polymorphisms in thymic malignancies and thymic benign lesions.

作者信息

Berardi Rossana, Goteri Gaia, Pagliaretta Silvia, Paolucci Vittorio, Morgese Francesca, Conti Alessandro, Refai Majed, Pompili Cecilia, Duranti Claudia, Marcantognini Giulia, Savini Agnese, Caramanti Miriam, Rinaldi Silvia, Torniai Mariangela, Santoni Matteo, Zizzi Antonio, Mazzanti Paola, Onofri Azzurra, Ricci Giulia, Scarpelli Marina

机构信息

Medical Oncology Unit, Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti Umberto I - GM Lancisi - G Salesi, Ancona, Italy.

Section of Pathological Anatomy and Histopathology - Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti Umberto I - GM Lancisi - G Salesi, Ancona, Italy.

出版信息

J Thorac Dis. 2020 Dec;12(12):7245-7256. doi: 10.21037/jtd-19-3720.

DOI:10.21037/jtd-19-3720

PMID:33447413

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7797874/

Abstract

BACKGROUND

We previously showed that selected single-nucleotide-polymorphisms (SNPs) of genes involved in angiogenesis influence the aggressiveness of thymic epithelial tumors (TETs). This study analyzes their role in TETs and in thymic benign lesions, in order to investigate potential correlation with risk and outcome.

METHODS

Genomic DNA was extracted from paraffin-embedded tissue of 92 patients, undergoing surgery at our Institution. We investigated by Real-Time PCR the SNPs of the following genes: platelet-derived growth factor receptorα (α), hypoxia-inducible factor-1α (α), vascular endothelial growth factor (), vascular endothelial growth factor receptor-2 and 3 (), excision repair cross-complementation group-1 ().

RESULTS

Fifty-seven TETs and 35 thymic benign lesions were included into the study. Frequency of SNPs was as follows: rs2057482 C, rs11158358 C and rs11549465 C polymorphisms of : thymomas < general population (P=0.008, P=0.007, and P=0.044 respectively). alleles: general population > study groups, rs1951795C SNP (P=0.026 for benign lesions and P=0.0007 for thymomas), rs10873142T SNP (P=0.008 and P=0.001 respectively), rs12434438 A SNP (P=0.034 and P=0.0007) and rs2301113A SNP (P=0.027 and P=0.010). rs699947C polymorphism of VEGF-A: benign lesions > general population (P=0.012).

CONCLUSIONS

This is the first study investigating the angiogenetic polymorphisms in thymic benign lesions and TETs. SNPs analysis may represent a further asset in identification of patients who could benefit from anti-angiogenetic therapy.

摘要

背景

我们之前的研究表明，参与血管生成的基因的特定单核苷酸多态性（SNP）会影响胸腺上皮肿瘤（TET）的侵袭性。本研究分析了它们在TET和胸腺良性病变中的作用，以探讨与风险和预后的潜在相关性。

方法

从在我们机构接受手术的92例患者的石蜡包埋组织中提取基因组DNA。我们通过实时聚合酶链反应（Real-Time PCR）研究了以下基因的SNP：血小板衍生生长因子受体α（α）、缺氧诱导因子-1α（α）、血管内皮生长因子（）、血管内皮生长因子受体-2和3（）、切除修复交叉互补组-1（）。

结果

本研究纳入了57例TET和35例胸腺良性病变。SNP的频率如下：血小板衍生生长因子受体α基因的rs2057482 C、rs11158358 C和rs11549465 C多态性：胸腺瘤低于一般人群（分别为P = 0.008、P = 0.007和P = 0.044）。血小板衍生生长因子受体α等位基因：一般人群高于研究组，rs1951795C SNP（良性病变为P = 0.026，胸腺瘤为P = 0.0007）、rs10873142T SNP（分别为P = 0.008和P = 0.001）、rs12434438 A SNP（分别为P = 0.034和P = 0.0007）以及rs2301113A SNP（分别为P = 0.027和P = 0.010）。血管内皮生长因子A基因的rs699947C多态性：良性病变高于一般人群（P = 0.012）。