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Updated: Nov 19, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
09:49

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

9.8K

NTRK fusion analysis reveals enrichment in Middle Eastern BRAF wild-type PTC

Yan Kong1, Rong Bu1, Sandeep Kumar Parvathareddy1

  • 1Human Cancer Genomic Research, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

European Journal of Endocrinology
|February 1, 2021
PubMed
Abstract

Insights

Neurotrophic tyrosine receptor kinase (NTRK) gene fusions occur in 6.0% of Middle Eastern papillary thyroid cancer (PTC) patients, particularly in pediatric cases and BRAF wild-type tumors. Pan-Trk immunohistochemistry (IHC) shows promise for screening these NTRK fusion-positive PTC patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are established oncogenic drivers across various cancers.
  • NTRK fusions are emerging as critical biomarkers for targeted therapies, with approved NTRK inhibitors available.
  • Data on NTRK gene fusion frequency and characteristics in papillary thyroid cancer (PTC), especially in Middle Eastern populations, is limited.

Purpose of the Study:

  • To determine the frequency of NTRK gene fusions in a large cohort of Middle Eastern PTC.
  • To investigate the clinicopathological features associated with NTRK gene fusions in PTC.
  • To evaluate the utility of pan-Trk immunohistochemistry (IHC) as a screening tool for NTRK fusions in PTC.

Main Methods:

  • Fluorescence in situ hybridization (FISH) was employed to detect NTRK gene fusions.
  • Pan-Trk immunohistochemistry (IHC) was performed on 315 Middle Eastern PTC samples.
  • Correlations between NTRK gene fusion status, protein expression, clinicopathological markers, and patient outcomes were analyzed.

Main Results:

  • NTRK gene fusions were identified in 6.0% (19/315) of the PTC cohort.
  • NTRK fusions were significantly associated with pediatric PTC, lymph node metastasis, and BRAF wild-type (WT) status.
  • Pan-Trk IHC positivity was observed in 9.2% (29/315) of cases, demonstrating 73.7% sensitivity and 94.9% specificity for detecting NTRK fusions.

Conclusions:

  • This study confirms the presence of NTRK fusions in Middle Eastern PTC, notably enriched in BRAF WT and pediatric cases.
  • Pan-Trk IHC is proposed as a valuable screening method for identifying PTC patients with NTRK fusions who may benefit from TRK inhibitor therapy.

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