Miselli F et al. – In gastrointestinal stromal tumors (GISTs), routine use of CD117/PDGFRA immunophenotyping is a useful diagnostic tool (especially in CD117-negative cases) because it correctly predicts presence of PDGFRA mutations in most cases Methods
Creation of database of 236 molecularly analyzed GISTs
Review of 180 cases that underwent KIT/PDGFRA immunophenotyping
Correlation of immunophenotype with molecular status of genes with expected involvement
Results
KIT and PDGFRA were coexpressed in most mutated c-Kit and wild-type c-Kit/PDGFRA GISTs
The -/+ immunophenotype (0% vs 48.6%) and PDGFRA dotlike immunostaining segregated with PDGFRA-mutated GISTs
Taking either the dotlike decoration (26 cases) or -/+ immunophenotype (5 cases) as hallmarks of PDGFRA mutation, presence of a PDGFRA mutation was predicted in 31 (83.8%) of 37 PDGFRA mutated GISTs
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