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Molecular and Immunologic Techniques in a Genetically Engineered Mouse Model of Gastrointestinal Stromal Tumor
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Tropomyosin-Related Kinase Fusions in Gastrointestinal Stromal Tumors

Ji Hyun Lee1, Su-Jin Shin2, Eun-Ah Choe3

  • 1Department of Internal Medicine, Division of Medical Oncology, Eunpyeong St. Mary's Hospital, The Catholic University of Korea, Seoul 03312, Korea.

Cancers
|June 10, 2022
PubMed

Insights

Gastrointestinal stromal tumors (GISTs) lacking common mutations were analyzed for tropomyosin-related kinase (TRK) fusions. Neurotrophic tyrosine receptor kinase (NTRK) fusions were identified in 16% of these wild-type GIST cases, highlighting a distinct molecular subtype.

Area of Science:

  • Oncology
  • Molecular Pathology
  • Genetics

Background:

  • Canonical mutations in gastrointestinal stromal tumors (GISTs) involve KIT and PDGFRA.
  • GISTs with non-canonical mutations represent a heterogeneous group.
  • Tropomyosin-related kinase (TRK) fusions are an emerging area of investigation in GISTs.

Purpose of the Study:

  • To investigate the presence and frequency of TRK fusions in GIST cases wild-type for KIT and PDGFRA mutations (KIT/PDGFRA WT GISTs).
  • To characterize the molecular alterations in this specific GIST subgroup.
  • To assess the potential for identifying a distinct disease subtype within KIT/PDGFRA WT GISTs.

Main Methods:

  • Retrospective analysis of 31 patients with KIT/PDGFRA WT GISTs diagnosed between 1998 and 2016.
  • Pan-TRK immunohistochemistry (IHC) to assess TRK expression.
  • Fluorescence in situ hybridization (FISH) to detect neurotrophic tyrosine receptor kinase (NTRK) gene rearrangements.

Main Results:

  • Five out of 31 (16%) KIT/PDGFRA WT GIST cases harbored NTRK fusions.
  • Three cases showed NTRK1 fusions, and two cases exhibited NTRK3 fusions.
  • TRK expression was observed in 5 cases via IHC, correlating with identified NTRK fusions.

Conclusions:

  • NTRK fusions represent a significant molecular alteration in a subset of KIT/PDGFRA WT GISTs.
  • The identification of NTRK fusions suggests a distinct molecular subtype within the heterogeneous KIT/PDGFRA WT GIST population.
  • Further research and improved diagnostic methods are needed to identify this specific GIST subtype.
Keywords:
KITPDGF receptor tyrosine kinasegastrointestinal stromal tumorneurotrophic tyrosine receptor kinase fusiontropomyosin-related kinase fusion

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