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Open Access 01-12-2016 | Research

Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation

Authors: Ja Seong Bae, Yourha Kim, Sora Jeon, Se Hee Kim, Tae Jung Kim, Sohee Lee, Min-Hee Kim, Dong Jun Lim, Youn Soo Lee, Chan Kwon Jung

Published in: Diagnostic Pathology | Issue 1/2016

Abstract

Background

Mutations in the TERT promoter, ALK rearrangement, and the BRAF V600E mutation are associated with aggressive clinicopathologic features in thyroid cancers. However, little is known about the impact of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of BRAF mutations.

Methods

We performed Sanger sequencing to detect BRAF V600E and TERT promoter mutations and both immunohistochemistry and fluorescence in situ hybridization to identify ALK rearrangement on 243 thyroid cancers.

Results

TERT promoter mutations were not present in 192 well-differentiated thyroid carcinomas (WDTC) without distant metastasis or in 9 medullary carcinomas. However, the mutations did occur in 40 % (12/30) of WDTC with distant metastasis, 29 % (2/7) of poorly differentiated carcinomas and 60 % (3/5) of anaplastic carcinomas. ALK rearrangement was not present in all thyroid cancers. The BRAF V600E mutation was more frequently found in WDTC without distant metastasis than in WDTC with distant metastasis (p = 0.007). In the cohort of WDTC with distant metastasis, patients with wild-type BRAF and TERT promoter had a significantly higher response rate after radioiodine therapy (p = 0.024), whereas the BRAF V600E mutation was significantly correlated with progressive disease (p = 0.025).

Conclusions

The TERT promoter mutation is an independent predictor for distant metastasis of WDTC, but ALK testing is not useful for clinical decision-making in Korean patients with a high prevalence of the BRAF V600E mutation. Radioiodine therapy for distant metastasis of WDTC is most effective in patients without BRAF V600E and TERT promoter mutations.

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Title: Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation
Authors: Ja Seong Bae
Yourha Kim
Sora Jeon
Se Hee Kim
Tae Jung Kim
Sohee Lee
Min-Hee Kim
Dong Jun Lim
Youn Soo Lee
Chan Kwon Jung
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Diagnostic Pathology / Issue 1/2016
Electronic ISSN: 1746-1596
DOI: https://doi.org/10.1186/s13000-016-0458-6

At a glance: The STEP trials

Springer Medicine

Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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