Kim Bo Hyun, Kim In Joo, Lee Byung Joo, Lee Jin Choon, Kim In Suk, Kim Seong-Jang, Kim Won Jin, Jeon Yun Kyung, Kim Sang Soo, Kim Yong Ki
Department of Internal Medicine, School of Medicine, Pusan National University, Busan, Korea.; Biomedical Research Institute, Busan, Korea.
Department of Otolaryngology, School of Medicine, Pusan National University, Busan, Korea.
Yonsei Med J. 2015 May;56(3):634-40. doi: 10.3349/ymj.2015.56.3.634.
The BRAF(V600E) mutation represents a novel indicator of the progression and aggressiveness of papillary thyroid carcinoma (PTC). The purpose of this study was to determine the clinical significance of free circulating mutant BRAF(V600E) in predicting the advanced disease of PTC.
Seventy seven matched tumor and plasma samples obtained from patients with both benign and PTC were analyzed for BRAF(V600E) mutation using a peptide nucleic acid (PNA) clamp real-time polymerase chain reaction (PCR).
The BRAF(V600E) mutation was absent in tumor DNA samples obtained from patients with benign follicular adenomas or adenomatous goiter. In contrast, 49 of 72 (68.1%) PTC tumors were positive for the BRAF(V600E) mutation. Among them, 3 (6.1%) patients with PTC were positive for BRAF(V600E) mutation in plasma and tumor. However, all 3 patients (100%) had lateral lymph node and lung metastasis.
These findings suggest that the BRAF(V600E) mutation can be detected using a PNA clamp real-time PCR in the blood of PTC patients with lung metastasis. Future studies are warranted to determine clinical significance of serum BRAF(V600E) mutation in large prospective studies.
BRAF（V600E）突变是甲状腺乳头状癌（PTC）进展和侵袭性的一种新指标。本研究的目的是确定游离循环突变型BRAF（V600E）在预测PTC晚期疾病中的临床意义。
使用肽核酸（PNA）钳夹实时聚合酶链反应（PCR）对77例来自良性和PTC患者的配对肿瘤和血浆样本进行BRAF（V600E）突变分析。
来自良性滤泡性腺瘤或腺瘤性甲状腺肿患者的肿瘤DNA样本中未检测到BRAF（V600E）突变。相比之下，72例PTC肿瘤中有49例（68.1%）BRAF（V600E）突变呈阳性。其中，3例（6.1%）PTC患者血浆和肿瘤中的BRAF（V600E）突变呈阳性。然而，所有3例患者（100%）均有侧方淋巴结和肺转移。
这些发现表明，使用PNA钳夹实时PCR可在有肺转移的PTC患者血液中检测到BRAF（V600E）突变。未来有必要通过大型前瞻性研究来确定血清BRAF（V600E）突变的临床意义。
