Interlaboratory comparison of IDH mutation detection

摘要: Isocitrate dehydrogenase (IDH) mutational testing is becoming increasingly important. For this, robust and reliable assays are needed. We tested the variation of results between six laboratories for IDH mutations. Each laboratory received five unstained slides from 31 formalin-fixed paraffin-embedded (FFPE) glioma samples, followed its own standard diagnostic routine. All used immunohistochemistry (IHC) with an antibody against most frequent IDH1 mutation (R132H) as a first step. Three then sequenced only IHC negative cases while others all cases. Based on overall analysis, 13 samples 11 tumors had R132H one tumor showed R132G mutation. Results mutations in were completely agreement, identified Upon sequencing two deviated those others. After review entire process, repeat (blinded) was agreement result. A change technique did partially improve other laboratory. very consistent across laboratories. procedures yielded inconsistent 2 out 6 Quality assurance pivotal before made part clinical management patients.