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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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Systematic review of NTRK 1/2/3 fusion prevalence pan-cancer and across solid tumours

Sophie O'Haire1,2, Fanny Franchini3,4, Yoon-Jung Kang5

  • 1Cancer Health Services Research, Centre for Health Policy, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia. sophie.ohaire@petermac.org.

Scientific Reports
|March 14, 2023
PubMed

Insights

Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are rare across many cancers. This review highlights the need for standardized genomic data to accurately predict prevalence and guide targeted therapy.

Area of Science:

  • Oncology
  • Genetics
  • Genomics

Background:

  • Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are rare but actionable mutations across diverse solid tumors.
  • The emergence of targeted therapies necessitates a clear understanding of NTRK fusion prevalence for clinical integration and patient identification.
  • Current diagnostic strategies and data heterogeneity pose challenges in predicting fusion incidence and therapeutic uptake.

Approach:

  • A systematic review of Medline, Embase, and Cochrane databases was conducted up to March 31, 2021.
  • Inclusion criteria focused on studies reporting NTRK fusion rates in solid tumors, published post-2010, in English, with adequate sample sizes.
  • Data were collated by cancer type, critically appraised, and pooled where feasible to synthesize prevalence estimates.

Key Points:

  • 160 studies were included, providing prevalence estimates for 15 pan-cancer and 429 specific cancer types.
  • Adult pan-cancer NTRK fusion prevalence ranged from 0.03% to 0.70%, with higher detection rates using RNA-based assays.
  • Common cancers showed consistently low rates (<0.5%), while specific subtypes (e.g., rare morphological variants, MSI-high colorectal cancer) exhibited higher frequencies.
  • A significant proportion of studies (64.4%) lacked appropriate methods or sample sizes for reliable NTRK fusion detection.

Conclusions:

  • NTRK gene fusions are rare and broadly distributed across solid tumors, complicating prevalence prediction.
  • Heterogeneous and small-scale data limit accurate epidemiological characterization of NTRK fusion-positive cancers.
  • Large-scale, standardized genomic data are essential for robust NTRK fusion epidemiology and optimizing targeted treatment strategies.

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