Correlation between BRAF~(V600E) mutation and clinicopathological features in pediatric papillary thyroid carcinoma

In adults, the presence of the BRAF~(V600E) 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...

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Veröffentlicht in:Science China. Life sciences 2017-07, Vol.60 (7), p.729-738
Hauptverfasser: Geng, Jiangqiao, Wang, Huanmin, Liu, Yuanhu, Tai, Jun, Jin, Yaqiong, Zhang, Jie, He, Lejian, Fu, Libing, Qin, Hong, Song, Yingluan, Su, Jinzhu, Zhang, Aiying, Wen, Xin, Guo, Yongli, Ni, Xin
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Sprache:eng
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Zusammenfassung:In adults, the presence of the BRAF~(V600E) 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~(V600E) mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF~(V600E) mutation in48 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~(V600E) 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~(V600E) 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~(V600E) mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC.
ISSN:1674-7305
1869-1889
DOI:10.1007/s11427-017-9083-8