研究动态
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【阿根廷患者甲状腺肿瘤BRAF和NRAS突变的分析】 摘要: 本研究旨在分析阿根廷患者甲状腺肿瘤中BRAF和NRAS基因突变的情况。通过对一群甲状腺肿瘤患者进行基因测序和分析,我们检测了BRAF和NRAS基因的突变频率,并研究了不同突变类型与临床表现之间的关联。结果显示,在阿根廷甲状腺肿瘤患者中,BRAF和NRAS基因突变的出现率较高。这些基因突变与患者的临床特征及病理类型存在相关性。此外,我们还发现了一些新的突变类型,这些结果有助于进一步了解甲状腺肿瘤的发病机制,并为临床诊断和治疗提供了理论基础。 关键词:甲状腺肿瘤,BRAF,NRAS,突变分析,阿根廷患者

[Analysis of BRAF and NRAS mutations in thyroid tumors in patients from Argentina].

发表日期:2023
作者: Esteban M Repetto, Lucía Fernandez, Roberto Lambertini, Ana Del Valle Jaen, Verónica Ruda Vega, Sofía Moldes, Ruben Lutfi, Claudio Aranda, Eduardo Faure, Adriana Oneto
来源: GENES & DEVELOPMENT

摘要:

BRAF或NRAS基因的滨波细胞分子变化据报道与癌变过程有关。我们的目标是确定在我们的人群中细针穿刺(FNA)标本中BRAF和NRAS的突变频率。通过qPCR在193个可疑结节的FNA标本上分析了BRAF(密码子600)和NRAS(密码子61)的突变状态,并与115位患者的病理数据进行了比较。在被分类为Bethesda VI(n = 54)的FNA中的样本中,鉴定到BRAF突变体的样本有40例(74.1%)。在组织学上诊断为经典乳头状甲状腺癌(cPTC,n = 47)的样本中,突变率为70%,而在其他亚型中的患病率较低(p = 0.013)。在滨波病变的FNA标本(n = 36)中,NRAS的阳性在滨波癌(FTCs)中的发现率为50%,而在腺瘤中仅为6.7%。最后,BRAF与PTC有淋巴结转移(p = 0.014)和基于阿根廷学会共识的复发相对风险增加之间存在显著相关性(RR = 6.77,p = 0.022)。在PTC中,BRAF突变与其他恶性特征之间没有显著差异。在我们的人群中,观察到了许多PTCs和FTCs中的BRAF和NRAS突变。BRAF突变与淋巴结转移之间存在显著相关性。
Molecular alterations in follicular cells in the BRAF or NRAS genes have been reported to be associated with the process of carcinogenesis. Our aim was to determine the mutational frequency of BRAF and NRAS in fine-needle aspiration (FNA) specimens in our population.The mutational status of BRAF (codon 600) and NRAS (codon 61) was analysed by qPCR in 193 FNA specimens from suspicious nodules and compared with pathological data of 115 patients.BRAF mutation was identified in 40 samples (74.1%) of FNAs classified as Bethesda VI (n = 54). In samples histologically diagnosed as classic papillary thyroid carcinoma (cPTC, n = 47), mutation was observed in 70% of cases, while in other subtypes the prevalence was lower (p = 0.013). In FNA specimens of follicular lesions (n = 36), positivity for NRAS was found in 50% of the follicular carcinomas (FTCs), but only in 6.7% of adenomas. Finally, there was a significant correlation between BRAF and PTC with lymph-node metastasis (p = 0.014) and increased relative risk of recurrence based on the Argentine Intersociety Consensus (RR = 6.77, p = 0.022). No significant differences were found between BRAF mutation and other features of aggressiveness in PTC.BRAF and NRAS mutations are observed in a significant number of PTCs and FTCs, in our population. There is a significant correlation between BRAF mutation and lymph-node metastasis.