Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Otolaryngology, Children's Hospital of Hebei Province, Shijiazhuang, 050031, China.
Sci China Life Sci. 2017 Jul;60(7):729-738. doi: 10.1007/s11427-017-9083-8. Epub 2017 Jun 15.
In adults, the presence of the BRAF mutation in papillary thyroid cancer (PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF mutation in 48 pediatric patients with PTC, aged 3-13 years. Of these patients, 41 were diagnosed with classic PTC, five were found to have a follicular variant of PTC, and two to exhibit a diffuse sclerosing PTC variant. The BRAF mutation was identified to be present in 35.4% of the 48 analyzed patients, and in 41.5% of the patients diagnosed with classical PTC. Furthermore, the presence of the BRAF mutation was found to be associated with a patient age at diagnosis of less than ten years (P=0.011), the performance of a thyroidectomy (P=0.03), exhibited tumor multifocality (P=0.02) and/or extra-thyroidal invasion (P=0.003), and both a low MACIS (Metastases, Age, Completeness of resection, Invasion, Size)(P=0.036) and AMES (Age, Metastasis, Extent of tumor, Size)(P=0.001) score. Together, these data suggest that the presence of the BRAF mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC.
在成年人中,已经证明甲状腺乳头状癌(PTC)中 BRAF 突变的存在与侵袭性癌细胞特征和患者预后不良密切相关。相比之下,该突变在儿科 PTC 中的频率研究有限,少数可用的估计值范围为 0 至 63%。此外,BRAF 突变在儿科 PTC 中的作用存在争议;因此,本研究旨在调查 48 名 3-13 岁 PTC 儿科患者中 BRAF 突变的流行率及其作用。在这些患者中,41 例被诊断为经典 PTC,5 例为 PTC 的滤泡变体,2 例为弥漫性硬化性 PTC 变体。在 48 例分析患者中,35.4%存在 BRAF 突变,在 41.5%诊断为经典 PTC 的患者中存在 BRAF 突变。此外,BRAF 突变的存在与诊断时患者年龄小于 10 岁(P=0.011)、甲状腺切除术(P=0.03)、肿瘤多灶性(P=0.02)和/或甲状腺外侵犯(P=0.003)相关,以及 MACIS(转移、年龄、切除完整性、侵袭、大小)(P=0.036)和 AMES(年龄、转移、肿瘤范围、大小)(P=0.001)评分均较低。总之,这些数据表明,BRAF 突变的存在可能与儿科 PTC 的部分侵袭性临床病理特征呈负相关。