Evaluation of the Idylla IDH1-2 Mutation Assay for the Detection of IDH Variants in Solid Tumors and Hematological Malignancies.

ABSTRACT: Isocitrate dehydrogenase (IDH) variants can lead to the development and/or progression of various solid tumors and hematological malignancies. IDH testing can guide diagnosis, prognosis, and therapeutic choice and typically relies on NGS, IHC, or PCR-based assays. Here, we evaluated the analytical performance of the Idylla IDH1-2 mutation assay for IDH variant detection using 70 fixed samples from patients with solid tumors and 36 DNA extracts from patients with acute myeloid leukemias previously characterized by NGS +/- IHC. Idylla IDH1-2 mutation assay gave 98.1% of valid results with an overall agreement, sensitivity, and specificity of 97.1%, 96.2%, and 98.1%, respectively, compared to NGS. Using commercial DNA standards, the limit of detection of the assay was 1.6

SUBMITTER: Gilson P 

PROVIDER: S-EPMC12842437 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature