Article
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.
The Journal of molecular diagnostics : JMD - 1 Mar 2026
Robinson Lisa, Rapp Sharleen, Zhang Weiwei, Pope Jaclyn, Cushman-Vokoun Allison M
Abstract excerpt
Gastrointestinal stromal tumors (GISTs) are predominantly characterized by mutations in KIT or PDGFRA. Mutation detection is important for optimal therapy. Next-generation sequencing (NGS) panels are useful in GIST assessment as they allow for simultaneous evaluation of multiple genes. However, inherent to use of NGS with short-read sequences on formalin-fixed specimens is the potential to miss larger insertion...
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