%0 Journal Article
%T Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples.
%A Solomon JP
%A Munoz-Zuluaga C
%A Slocum C
%A Dillard A
%A Cong L
%A Wang J
%A Lindeman N
%A Kluk M
%A Liechty B
%A Pisapia D
%A Rennert H
%A Velu PD
%J Diagn Pathol
%V 19
%N 1
%D 2024 May 25
%M 38796421
%F 3.196
%R 10.1186/s13000-024-01492-3
%X IDH1 and IDH2 mutational status is a critical biomarker with diagnostic, prognostic, and treatment implications in glioma. Although IDH1 p.R132H-specific immunohistochemistry is available, it is unable to identify other mutations in IDH1/2. Next-generation sequencing can accurately determine IDH1/2 mutational status but suffers from long turnaround time when urgent treatment planning and initiation is medically necessary. The Idylla assay can detect IDH1/2 mutational status from unstained formalin-fixed paraffin-embedded (FFPE) slides in as little as a few hours. In a clinical validation, we demonstrate clinical accuracy of 97% compared to next-generation sequencing. Sensitivity studies demonstrated a limit of detection of 2.5-5% variant allele frequency, even at DNA inputs below the manufacturer's recommended threshold. Overall, the assay is an effective and accurate method for rapid determination of IDH1/2 mutational status.