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mRNA BRAF 表达有助于在甲状腺结节中独立于 BRAFV600E 突变的存在来识别甲状腺乳头状癌。

mRNA BRAF expression helps to identify papillary thyroid carcinomas in thyroid nodules independently of the presence of BRAFV600E mutation.

机构信息

Laboratory of Cancer Molecular Genetics, Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil.

出版信息

Pathol Res Pract. 2012 Aug 15;208(8):489-92. doi: 10.1016/j.prp.2012.05.013. Epub 2012 Jul 5.

DOI:10.1016/j.prp.2012.05.013
PMID:22770943
Abstract

Literature has consistently shown associations of BRAFV600E mutation with papillary thyroid cancer clinical features. However, the clinical utility of BRAF expression has not been clinically explored so far. We studied 67 thyroid nodules (32 benign nodules and 35 PTC cases). BRAF mRNA expression levels measured by a quantitative real-time PCR and a PCR-RFLP were used to identify BRAFV600E mutation. BRAF mRNA expression was significantly higher in malignant (198.2±373.9 AU) than in benign (4.1±6.9 AU) nodules (p<0.0001). BRAF expression identified malignancy with a sensitivity of 80.6%, specificity of 77.1%, positive predictive value of 75.8%, and negative predictive value of 81.8%. A cut-point of 4.712, identified by the ROC curve, was able to sort out malignant nodules with an accuracy of 78.8%. Although we did not find any correlation between the presence of BRAF V600E mutation and clinical or tumor features such as age (p=0.309), gender (p=0.5453), ethnicity (p=0.9820), tumor size (p=1.000), multifocality (p=0.2530) or mRNA levels (p=0.7510), the study power for BRAF expression and diagnosis (99%; FPRP=0.85) indicated that data is noteworthy despite the relative small number of patients investigated. We concluded that BRAF mRNA expression may help to identify PTC among thyroid nodules independently of the presence of BRAFV600E mutation.

摘要

文献一直表明 BRAFV600E 突变与甲状腺乳头状癌的临床特征有关。然而,BRAF 表达的临床应用尚未得到临床探索。我们研究了 67 个甲状腺结节(32 个良性结节和 35 个 PTC 病例)。通过定量实时 PCR 和 PCR-RFLP 测量 BRAF mRNA 表达水平,以鉴定 BRAFV600E 突变。恶性结节(198.2±373.9 AU)的 BRAF mRNA 表达明显高于良性结节(4.1±6.9 AU)(p<0.0001)。BRAF 表达鉴定恶性肿瘤的敏感性为 80.6%,特异性为 77.1%,阳性预测值为 75.8%,阴性预测值为 81.8%。ROC 曲线确定的截断值为 4.712,可以准确地区分恶性结节,准确率为 78.8%。尽管我们没有发现 BRAF V600E 突变的存在与年龄(p=0.309)、性别(p=0.5453)、种族(p=0.9820)、肿瘤大小(p=1.000)、多灶性(p=0.2530)或 mRNA 水平(p=0.7510)之间存在任何相关性,但 BRAF 表达和诊断的研究能力(99%;FPRP=0.85)表明,尽管研究的患者数量相对较少,但数据仍然值得关注。我们得出结论,BRAF mRNA 表达可帮助在不考虑 BRAFV600E 突变的情况下识别甲状腺结节中的 PTC。

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