| Title | Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples. |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Solomon JP, Munoz-Zuluaga C, Slocum C, Dillard A, Cong L, Wang J, Lindeman N, Kluk M, Liechty B, Pisapia D, Rennert H, Velu PD |
| Journal | Diagn Pathol |
| Volume | 19 |
| Issue | 1 |
| Pagination | 70 |
| Date Published | 2024 May 25 |
| ISSN | 1746-1596 |
| Keywords | Biomarkers, Tumor, Brain Neoplasms, DNA Mutational Analysis, Formaldehyde, Glioma, High-Throughput Nucleotide Sequencing, Humans, Isocitrate Dehydrogenase, Mutation, Paraffin Embedding, Reproducibility of Results, Tissue Fixation |
| 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. |
| DOI | 10.1186/s13000-024-01492-3 |
| Alternate Journal | Diagn Pathol |
| PubMed ID | 38796421 |
| PubMed Central ID | PMC11128120 |
Related Faculty:
James Solomon, M.D., Ph.D. Carlos Munoz Zuluaga, M.D. Priya Velu, M.D., Ph.D. David Pisapia, M.D. Benjamin L. Liechty, M.D. Neal Lindeman, M.D.