Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples.
Diagn Pathol
; 19(1): 70, 2024 May 25.
Article
in En
| MEDLINE
| ID: mdl-38796421
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain Neoplasms
/
Glioma
/
Isocitrate Dehydrogenase
/
Mutation
Limits:
Humans
Language:
En
Journal:
Diagn Pathol
/
Diagn. pathol
/
Diagnostic pathology (Online)
Journal subject:
PATOLOGIA
Year:
2024
Document type:
Article
Affiliation country:
Estados Unidos
Country of publication:
Reino Unido