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首页> 外文期刊>Experimental and clinical endocrinology and diabetes: Official journal, German Society of Endocrinology [and] German Diabetes Association >Correlation among the BRAF gene mutation status, clinicopathological features of primary Tumour, and lymph node metastasizing of papillary thyroid carcinoma
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Correlation among the BRAF gene mutation status, clinicopathological features of primary Tumour, and lymph node metastasizing of papillary thyroid carcinoma

机译：甲状腺乳头状癌的BRAF基因突变状态，原发性肿瘤临床病理特征与淋巴结转移之间的相关性

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Background: Papillary thyroid carcinoma (PTC) is the most common malignant thyroid tumour. A common mutation of papillary thyroid carcinoma (PTC) is the somatic mutation of the BRAF V600E gene. Aim: The aim was to 1) determine the association of lymph node metastases of PTC with the BRAF gene mutation of primary tumour; 2) evaluate association of the BRAF mutation in the Aprimary tumour with clinicopathological paraAmeters; 3) examine the extent of genetic heterogeneity by monitoring the BRAF mutation in multicentric tumours. Subjects and methods: Retrospective analysis of the BRAF V600E mutation in PTC and PTC neck lymph node metastases in 156 patients operated from 2003 to 2012 in Prague and Zlín, the Czech Republic, using a qPCR assay. The results were correlated with clinicopathological factors. Results: DNA was successfully extracted from 137 samples. The BRAF V600E mutation was detected in 78 cases (56.9%). The patients with BRAF p.Val600Glu mutation of primary tumour had only non-significantly higher risk of cervical lymph node metastases [OR=2.39 (95%) CI 1.00-5.75, p=0.052]. In the classic papillary variant, the BRAF V600E mutation was found significantly more often than in other PTC subtypes (p=0.022). We did not confirm any significant association between the BRAF V600E mutation and other clinicopathological findings. Conclusion: Except for the higher prevalence in papillary variant of PTC, BRAF p.Val600Glu mutation was not associated with other prognostic clinicopathological factors of PTC. BRAF mutation cannot be regarded as a reliable marker of node metastases in patients with PTC.
机译：背景：乳头状甲状腺癌（PTC）是最常见的甲状腺恶性肿瘤。乳头状甲状腺癌（PTC）的常见突变是BRAF V600E基因的体细胞突变。目的：1）确定PTC的淋巴结转移与原发性BRAF基因突变的关系; 2）评估原发性肿瘤中BRAF突变与临床病理参数的关联; 3）通过监测多中心肿瘤中的BRAF突变来检查遗传异质性的程度。研究对象和方法：使用qPCR分析对2003年至2012年在捷克共和国布拉格和兹林手术的156例患者中PTC和PTC颈部淋巴结转移的BRAF V600E突变进行回顾性分析。结果与临床病理因素相关。结果：成功地从137个样品中提取了DNA。在78例中检出了BRAF V600E突变（56.9％）。具有BRAF p.Val600Glu突变的原发性肿瘤患者宫颈淋巴结转移的风险仅显着较高[OR = 2.39（95％）CI 1.00-5.75，p = 0.052]。在经典的乳头状变体中，发现BRAF V600E突变的频率明显高于其他PTC亚型（p = 0.022）。我们没有确认BRAF V600E突变与其他临床病理结果之间有任何显着关联。结论：除了PTC的乳头状变体患病率较高外，BRAF p.Val600Glu突变与PTC的其他预后临床病理因素无关。 BRAF突变不能被认为是PTC患者结节转移的可靠标志。

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