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

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Abstract

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 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 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.

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Acknowledgements

This work was supported in part by Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support (ZYLX201508), Beijing Municipal Science and Technology Project (D131100005313014), and Beijing Health System Top Level Health Technical Personnel Training Plan (20153079).

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  1. Contributed equally to this work

Authors and Affiliations

  1. Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Jiangqiao Geng, Jun Tai, Jie Zhang & Xin Ni

  2. Otolaryngology, Children’s Hospital of Hebei Province, Shijiazhuang, 050031, China

    Jiangqiao Geng, Yingluan Song, Jinzhu Su, Aiying Zhang & Xin Wen

  3. Department of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Huanmin Wang & Hong Qin

  4. Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Yuanhu Liu, Yaqiong Jin, Yongli Guo & Xin Ni

  5. Department of Pathology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Lejian He & Libing Fu

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  1. Jiangqiao Geng
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  2. Huanmin Wang
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Correspondence to Yongli Guo or Xin Ni.

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Geng, J., Wang, H., Liu, Y. et al. Correlation between BRAF V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma. Sci. China Life Sci. 60, 729–738 (2017). https://doi.org/10.1007/s11427-017-9083-8

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  • DOI: https://doi.org/10.1007/s11427-017-9083-8

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