FoundationOne CDx testing accurately determines whole arm 1p19q codeletion status in gliomas
| Autor: | James Haberberger, William H. Yong, Brian M. Alexander, Matthew Ji, Timothy F. Cloughesy, Linda M. Liau, Albert Lai, Maureen Cooper, Jacqueline Jenkins, Dean Pavlick, Natalie Danziger, Lee A. Albacker, Garrett M. Frampton, Radwa Sharaf, Shakti H. Ramkissoon, Phioanh L. Nghiemphu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Oncology
medicine.medical_specialty IDH1 Concordance 03 medical and health sciences Rare Diseases 0302 clinical medicine Clinical Research Glioma Internal medicine glioma Genetics medicine Overall survival AcademicSubjects/MED00300 F1CDx Cancer FoundationOne business.industry comprehensive genomic profiling Hazard ratio Neurosciences CGP medicine.disease Predictive value Brain Disorders Brain Cancer Clinical trial Gene expression profiling Good Health and Well Being 030220 oncology & carcinogenesis 1p19q Basic and Translational Investigations AcademicSubjects/MED00310 business 030217 neurology & neurosurgery |
| Zdroj: | Neuro-oncology Advances Neuro-oncology advances, vol 3, iss 1 |
| ISSN: | 2632-2498 |
| Popis: | Background Molecular profiling of gliomas is vital to ensure diagnostic accuracy, inform prognosis, and identify clinical trial options for primary and recurrent tumors. This study aimed to determine the accuracy of reporting the whole arm 1p19q codeletion status from the FoundationOne platform. Methods Testing was performed on glioma samples as part of clinical care and analyzed up to 395 cancer-associated genes (including IDH1/2). The whole arm 1p19q codeletion status was predicted from the same assay using a custom research-use only algorithm, which was validated using 463 glioma samples with available fluorescence in-situ hybridization (FISH) data. For 519 patients with available outcomes data, progression-free and overall survival were assessed based on whole arm 1p19q codeletion status derived from sequencing data. Results Concordance between 1p19q status based on FISH and our algorithm was 96.7% (449/463) with a positive predictive value (PPV) of 100% and a positive percent agreement (PPA) of 91.0%. All discordant samples were positive for codeletion by FISH and harbored genomic alterations inconsistent with oligodendrogliomas. Median overall survival was 168 months for the IDH1/2 mutant, codeleted group, and 122 months for IDH1/2 mutant-only (hazard ratio (HR): 0.42; P < .05). Conclusions 1p19q codeletion status derived from FoundationOne testing is highly concordant with FISH results. Genomic profiling may be a reliable substitute for traditional FISH testing while also providing IDH1/2 status. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|