BRAF V600E mutational status in pediatric thyroid cancer

Lauren E. Henke, Stephanie M. Perkins, John D. Pfeifer, Changquing Ma, Yumei Chen, Todd DeWees, Perry W. Grigsby

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Background: Clinical outcome of papillary thyroid carcinoma (PTC) in children differs significantly from that of adults. There is no clear explanation of this difference although previous studies have demonstrated a lower prevalence of the BRAFV600E mutation in PTC of children. However, data are limited due to the rarity of this diagnosis. BRAFV600E mutation prevalence and its relationship with outcome in pediatric PTC remain unclear. Procedure: BRAFV600E mutational status was determined in 27 PTC patients less than 22 years of age using restriction fragment length polymorphism (RFLP) analysis. The relationship between BRAFV600E mutation status, patient and tumor characteristics as well as progression-free survival (PFS) were analyzed. Results: BRAFV600E was present in 63% of patients and occurred more often in male patients versus females (P=0.033). Presence of the mutation did not correlate with any difference in extent of disease at diagnosis, tumor size, capsular invasion, vascular invasion, soft tissue invasion, or margin status. At 10 years, PFS for BRAFV600E positive versus negative patients was 55.5% versus 70.0%, respectively (P=0.48). Overall survival was 100% and median follow-up was 13.9 years. Conclusions: This study of pediatric PTC demonstrates that BRAFV600E mutations occur in children at a rate comparable to adults. We found a correlation of BRAFV600E with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAFV600E mutation. Pediatr Blood Cancer 2014;61:1168-1172.

Original languageEnglish (US)
Pages (from-to)1168-1172
Number of pages5
JournalPediatric Blood and Cancer
Volume61
Issue number7
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

Fingerprint

Thyroid Neoplasms
Pediatrics
Mutation
Disease-Free Survival
Neoplasms
Restriction Fragment Length Polymorphisms
Blood Vessels
Papillary Thyroid cancer
Survival

Keywords

  • BRAF mutation
  • BRAF V600E
  • Pediatric BRAF mutation
  • Pediatric thyroid carcinoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Henke, L. E., Perkins, S. M., Pfeifer, J. D., Ma, C., Chen, Y., DeWees, T., & Grigsby, P. W. (2014). BRAF V600E mutational status in pediatric thyroid cancer. Pediatric Blood and Cancer, 61(7), 1168-1172. https://doi.org/10.1002/pbc.24935

BRAF V600E mutational status in pediatric thyroid cancer. / Henke, Lauren E.; Perkins, Stephanie M.; Pfeifer, John D.; Ma, Changquing; Chen, Yumei; DeWees, Todd; Grigsby, Perry W.

In: Pediatric Blood and Cancer, Vol. 61, No. 7, 01.01.2014, p. 1168-1172.

Research output: Contribution to journalArticle

Henke, LE, Perkins, SM, Pfeifer, JD, Ma, C, Chen, Y, DeWees, T & Grigsby, PW 2014, 'BRAF V600E mutational status in pediatric thyroid cancer', Pediatric Blood and Cancer, vol. 61, no. 7, pp. 1168-1172. https://doi.org/10.1002/pbc.24935
Henke LE, Perkins SM, Pfeifer JD, Ma C, Chen Y, DeWees T et al. BRAF V600E mutational status in pediatric thyroid cancer. Pediatric Blood and Cancer. 2014 Jan 1;61(7):1168-1172. https://doi.org/10.1002/pbc.24935
Henke, Lauren E. ; Perkins, Stephanie M. ; Pfeifer, John D. ; Ma, Changquing ; Chen, Yumei ; DeWees, Todd ; Grigsby, Perry W. / BRAF V600E mutational status in pediatric thyroid cancer. In: Pediatric Blood and Cancer. 2014 ; Vol. 61, No. 7. pp. 1168-1172.
@article{d9b386e19a5547489074ea37736a5bdb,
title = "BRAF V600E mutational status in pediatric thyroid cancer",
abstract = "Background: Clinical outcome of papillary thyroid carcinoma (PTC) in children differs significantly from that of adults. There is no clear explanation of this difference although previous studies have demonstrated a lower prevalence of the BRAFV600E mutation in PTC of children. However, data are limited due to the rarity of this diagnosis. BRAFV600E mutation prevalence and its relationship with outcome in pediatric PTC remain unclear. Procedure: BRAFV600E mutational status was determined in 27 PTC patients less than 22 years of age using restriction fragment length polymorphism (RFLP) analysis. The relationship between BRAFV600E mutation status, patient and tumor characteristics as well as progression-free survival (PFS) were analyzed. Results: BRAFV600E was present in 63{\%} of patients and occurred more often in male patients versus females (P=0.033). Presence of the mutation did not correlate with any difference in extent of disease at diagnosis, tumor size, capsular invasion, vascular invasion, soft tissue invasion, or margin status. At 10 years, PFS for BRAFV600E positive versus negative patients was 55.5{\%} versus 70.0{\%}, respectively (P=0.48). Overall survival was 100{\%} and median follow-up was 13.9 years. Conclusions: This study of pediatric PTC demonstrates that BRAFV600E mutations occur in children at a rate comparable to adults. We found a correlation of BRAFV600E with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAFV600E mutation. Pediatr Blood Cancer 2014;61:1168-1172.",
keywords = "BRAF mutation, BRAF V600E, Pediatric BRAF mutation, Pediatric thyroid carcinoma",
author = "Henke, {Lauren E.} and Perkins, {Stephanie M.} and Pfeifer, {John D.} and Changquing Ma and Yumei Chen and Todd DeWees and Grigsby, {Perry W.}",
year = "2014",
month = "1",
day = "1",
doi = "10.1002/pbc.24935",
language = "English (US)",
volume = "61",
pages = "1168--1172",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "7",

}

TY - JOUR

T1 - BRAF V600E mutational status in pediatric thyroid cancer

AU - Henke, Lauren E.

AU - Perkins, Stephanie M.

AU - Pfeifer, John D.

AU - Ma, Changquing

AU - Chen, Yumei

AU - DeWees, Todd

AU - Grigsby, Perry W.

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Background: Clinical outcome of papillary thyroid carcinoma (PTC) in children differs significantly from that of adults. There is no clear explanation of this difference although previous studies have demonstrated a lower prevalence of the BRAFV600E mutation in PTC of children. However, data are limited due to the rarity of this diagnosis. BRAFV600E mutation prevalence and its relationship with outcome in pediatric PTC remain unclear. Procedure: BRAFV600E mutational status was determined in 27 PTC patients less than 22 years of age using restriction fragment length polymorphism (RFLP) analysis. The relationship between BRAFV600E mutation status, patient and tumor characteristics as well as progression-free survival (PFS) were analyzed. Results: BRAFV600E was present in 63% of patients and occurred more often in male patients versus females (P=0.033). Presence of the mutation did not correlate with any difference in extent of disease at diagnosis, tumor size, capsular invasion, vascular invasion, soft tissue invasion, or margin status. At 10 years, PFS for BRAFV600E positive versus negative patients was 55.5% versus 70.0%, respectively (P=0.48). Overall survival was 100% and median follow-up was 13.9 years. Conclusions: This study of pediatric PTC demonstrates that BRAFV600E mutations occur in children at a rate comparable to adults. We found a correlation of BRAFV600E with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAFV600E mutation. Pediatr Blood Cancer 2014;61:1168-1172.

AB - Background: Clinical outcome of papillary thyroid carcinoma (PTC) in children differs significantly from that of adults. There is no clear explanation of this difference although previous studies have demonstrated a lower prevalence of the BRAFV600E mutation in PTC of children. However, data are limited due to the rarity of this diagnosis. BRAFV600E mutation prevalence and its relationship with outcome in pediatric PTC remain unclear. Procedure: BRAFV600E mutational status was determined in 27 PTC patients less than 22 years of age using restriction fragment length polymorphism (RFLP) analysis. The relationship between BRAFV600E mutation status, patient and tumor characteristics as well as progression-free survival (PFS) were analyzed. Results: BRAFV600E was present in 63% of patients and occurred more often in male patients versus females (P=0.033). Presence of the mutation did not correlate with any difference in extent of disease at diagnosis, tumor size, capsular invasion, vascular invasion, soft tissue invasion, or margin status. At 10 years, PFS for BRAFV600E positive versus negative patients was 55.5% versus 70.0%, respectively (P=0.48). Overall survival was 100% and median follow-up was 13.9 years. Conclusions: This study of pediatric PTC demonstrates that BRAFV600E mutations occur in children at a rate comparable to adults. We found a correlation of BRAFV600E with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAFV600E mutation. Pediatr Blood Cancer 2014;61:1168-1172.

KW - BRAF mutation

KW - BRAF V600E

KW - Pediatric BRAF mutation

KW - Pediatric thyroid carcinoma

UR - http://www.scopus.com/inward/record.url?scp=84899697026&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84899697026&partnerID=8YFLogxK

U2 - 10.1002/pbc.24935

DO - 10.1002/pbc.24935

M3 - Article

VL - 61

SP - 1168

EP - 1172

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

SN - 1545-5009

IS - 7

ER -