Department of Pathology, Griffith Medical School, Gold Coast, Queensland, Gold Coast QLD 4222, Australia.
Hum Pathol. 2011 Apr;42(4):500-6. doi: 10.1016/j.humpath.2009.09.023. Epub 2010 Dec 16.
Mutation of the BRAF gene is common in thyroid cancer. Follicular variant of papillary thyroid carcinoma is a variant of papillary thyroid carcinoma that has created continuous diagnostic controversies among pathologists. The aims of this study are to (1) investigate whether follicular variant of papillary thyroid carcinoma has a different pattern of BRAF mutation than conventional papillary thyroid carcinoma in a large cohort of patients with typical features of follicular variant of papillary thyroid carcinoma and (2) to study the relationship of clinicopathological features of papillary thyroid carcinomas with BRAF mutation. Tissue blocks from 76 patients with diagnostic features of papillary thyroid carcinomas (40 with conventional type and 36 with follicular variant) were included in the study. From these, DNA was extracted and BRAF V600E mutations were detected by polymerase chain reaction followed by restriction enzyme digestion and sequencing of exon 15. Analysis of the data indicated that BRAF V600E mutation is significantly more common in conventional papillary thyroid carcinoma (58% versus 31%, P = .022). Furthermore, the mutation was often noted in female patients (P = .017), in high-stage cancers (P = .034), and in tumors with mild lymphocytic thyroiditis (P = .006). We concluded that follicular variant of papillary thyroid carcinoma differs from conventional papillary thyroid carcinoma in the rate of BRAF mutation. The results of this study add further information indicating that mutations in BRAF play a role in thyroid cancer development and progression.
BRAF 基因突变在甲状腺癌中很常见。滤泡型甲状腺乳头状癌是甲状腺乳头状癌的一种变体,在病理学家中引起了持续的诊断争议。本研究的目的是:(1) 在一组具有典型滤泡型甲状腺乳头状癌特征的患者中,研究滤泡型甲状腺乳头状癌的 BRAF 突变模式是否与传统的甲状腺乳头状癌不同;(2) 研究甲状腺乳头状癌的临床病理特征与 BRAF 突变的关系。本研究纳入了 76 例具有甲状腺乳头状癌诊断特征的患者的组织块(40 例为传统型,36 例为滤泡型)。从这些组织中提取 DNA,并通过聚合酶链反应(PCR)检测 BRAF V600E 突变,然后用内切酶消化和外显子 15 的测序进行检测。数据分析表明,BRAF V600E 突变在传统型甲状腺乳头状癌中更为常见(58%比 31%,P=0.022)。此外,突变常发生在女性患者中(P=0.017)、高分期癌症中(P=0.034)和伴有轻度淋巴细胞性甲状腺炎的肿瘤中(P=0.006)。我们得出结论,滤泡型甲状腺乳头状癌与传统型甲状腺乳头状癌在 BRAF 突变率上存在差异。本研究的结果进一步表明,BRAF 突变在甲状腺癌的发生和发展中起作用。