BRAF（V600E）突变与甲状腺乳头状癌临床病理特征之间的关联：一项巴西单中心病例系列研究
Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: a Brazilian single-centre case series.
作者信息
Pessôa-Pereira Danielle, Medeiros Mateus Fernandes da Silva, Lima Virna Mendonça Sampaio, Silva Joaquim Custódio da, Cerqueira Taíse Lima de Oliveira, Silva Igor Campos da, Fonseca Luciano Espinheira, Sampaio Luiz José Lobão, Lima Cláudio Rogério Alves de, Ramos Helton Estrela
机构信息
Departamento de Biorregulação, Laboratório de Estudo da Tireoide, Instituto de Saúde e Ciência, Universidade Federal da Bahia (UFBA), Salvador, BA, Brasil.
Departamento de Anatomia Patológica e Citopatologia, Hospital São Rafael, Salvador, BA, Brasil.
出版信息
Arch Endocrinol Metab. 2019 Mar-Apr;63(2):97-106. doi: 10.20945/2359-3997000000120. Epub 2019 Mar 21.
OBJECTIVES
We aimed to investigate the prevalence of the BRAF (V600E) mutation in consecutive cases of papillary thyroid carcinoma (PTC) in patients diagnosed and treated at the Hospital Sao Rafael (Salvador, BA, Brazil) and evaluate its association with clinical and pathological characteristics of PTC.
SUBJECTS AND METHODS
We retrospectively enrolled in the study a total of 43 consecutive PTC patients who underwent total thyroidectomy. We performed DNA extraction from formalin-fixed paraffin-embedded (FFPE) tumour tissue samples. Polymerase chain reaction (PCR) and direct sequencing were used to determine BRAF (V600E) mutation status. Univariate and multivariate logistic regression analyses were employed to identify independent associations.
RESULTS
The prevalence of BRAF (V600E) mutation was 65.1% (28/43). A high frequency of older patients (p value: 0.004) was observed among the BRAF-mutated PTC group and, in contrast, a low frequency of concurrent Hashimoto's thyroiditis (HT) (p value: 0.011) was noted. Multivariate analysis confirmed that older age (OR: 1.15; 95% CI: 1.00 - 1.33; p value: 0.047) and HT (OR: 0.05; 95% CI: 0.006-0.40; p value: 0.005) were independent factors associated with BRAF (V600E) mutation.
CONCLUSION
We found a high prevalence of BRAF (V600E) mutation in PTC cases. Older age and no concurrent HT were independently associated with BRAF (V600E) mutation.
目的
我们旨在调查在圣拉斐尔医院（巴西巴伊亚州萨尔瓦多）诊断和治疗的连续性乳头状甲状腺癌（PTC）患者中BRAF（V600E）突变的发生率，并评估其与PTC临床和病理特征的相关性。
对象与方法
我们回顾性纳入了43例接受全甲状腺切除术的连续性PTC患者。从福尔马林固定石蜡包埋（FFPE）肿瘤组织样本中提取DNA。采用聚合酶链反应（PCR）和直接测序法确定BRAF（V600E）突变状态。采用单因素和多因素逻辑回归分析来确定独立关联。
结果
BRAF（V600E）突变的发生率为65.1%（28/43）。在BRAF突变的PTC组中观察到老年患者的比例较高（p值：0.004），相反，并发桥本甲状腺炎（HT）的比例较低（p值：0.011）。多因素分析证实，老年（OR：1.15；95%CI：1.00 - 1.33；p值：0.047）和HT（OR：0.05；95%CI：0.006 - 0.40；p值：0.005）是与BRAF（V600E）突变相关的独立因素。
结论
我们发现PTC病例中BRAF（V600E）突变的发生率较高。老年和无并发HT与BRAF（V600E）突变独立相关。
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