Kim Tae Yong, Kim Won Bae, Song Ja Young, Rhee Yoon Soo, Gong Gyungyub, Cho Yong Mee, Kim Sang Yoon, Kim Seong Chul, Hong Suck Joon, Shong Young Kee
Department of Internal Medicine, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, Korea.
Clin Endocrinol (Oxf). 2005 Nov;63(5):588-93. doi: 10.1111/j.1365-2265.2005.02389.x.
The BRAF(V600E) mutation, the most common genetic alteration reported in papillary thyroid carcinoma, has been associated with poor prognostic factors.
To determine whether the presence of the BRAF(V600E) mutation is associated with poor prognosis in Korean patients with conventional papillary thyroid microcarcinoma (micro-PTC).
DNA was extracted from paraffin-embedded thyroid tumour specimens taken from 60 patients with conventional micro-PTC, as well as from nine patients with follicular variant papillary carcinoma, six with nodular hyperplasia, four with follicular carcinoma (including one with Hürthle cell carcinoma), four with follicular adenoma (including two with Hürthle cell adenoma) and one each with medullary carcinoma, poorly differentiated carcinoma and anaplastic carcinoma. The presence of the BRAF(V600E) mutation was determined by polymerase chain reaction (PCR) amplification of exon 15 followed by direct sequencing.
The BRAF(V600E) mutation was detected in tumour samples from 31 of 60 conventional micro-PTC patients (52%), but was not detected in patients with other types of thyroid tumours. The age distribution, tumour size, extrathyroid extension, multifocality and staging did not differ significantly between patients with and without the BRAF(V600E) mutation.
In Korean patients with conventional micro-PTC, the presence of the BRAF(V600E) mutation was not significantly associated with prognostic factors.
BRAF(V600E)突变是甲状腺乳头状癌中报道的最常见基因改变,与不良预后因素相关。
确定BRAF(V600E)突变的存在是否与韩国常规甲状腺微小乳头状癌(微小PTC)患者的不良预后相关。
从60例常规微小PTC患者的石蜡包埋甲状腺肿瘤标本中提取DNA,同时从9例滤泡状变异型乳头状癌患者、6例结节性增生患者、4例滤泡状癌(包括1例许特莱细胞癌)患者、4例滤泡性腺瘤(包括2例许特莱细胞腺瘤)患者以及各1例髓样癌、低分化癌和未分化癌患者中提取DNA。通过对第15外显子进行聚合酶链反应(PCR)扩增,随后直接测序来确定BRAF(V600E)突变的存在情况。
60例常规微小PTC患者中有31例(52%)的肿瘤样本检测到BRAF(V600E)突变,但其他类型甲状腺肿瘤患者未检测到。BRAF(V600E)突变阳性和阴性患者之间的年龄分布、肿瘤大小、甲状腺外侵犯、多灶性和分期无显著差异。
在韩国常规微小PTC患者中,BRAF(V600E)突变的存在与预后因素无显著相关性。