Frequency of false-positive FISH 1p/19q codeletion in adult diffuse astrocytic gliomas
| Autor: | Michelle L McKenna, Caterina Giannini, Mark E. Jentoft, Daniel H. Lachance, Corinne Praska, Benjamin R. Kipp, Aditya Raghunathan, Cristiane M. Ida, Matthew K. Ball, Robert B. Jenkins, Thomas M. Kollmeyer |
|---|---|
| Přispěvatelé: | Ball, Matthew K, Kollmeyer, Thomas M, Praska, Corinne E, McKenna, Michelle L, Giannini, Caterina, Raghunathan, Aditya, Jentoft, Mark E, Lachance, Daniel H, Kipp, Benjamin R, Jenkins, Robert B, Ida, Cristiane M |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty IDH1 1p/19q Codeletion Biology IDH2 cIMPACT WHO 03 medical and health sciences 0302 clinical medicine chromosomal microarray medicine False positive paradox AcademicSubjects/MED00300 astrocytoma ATRX medicine.diagnostic_test nutritional and metabolic diseases Astrocytoma General Medicine medicine.disease oligodendroglioma nervous system diseases 030104 developmental biology Basic and Translational Investigations AcademicSubjects/MED00310 Oligodendroglioma 030217 neurology & neurosurgery Fluorescence in situ hybridization |
| Zdroj: | Neuro-oncology Advances |
| ISSN: | 2632-2498 |
| DOI: | 10.1093/noajnl/vdaa109 |
| Popis: | BackgroundOligodendroglioma is genetically defined by concomitant IDH (IDH1/IDH2) mutation and whole-arm 1p/19q codeletion. Codeletion of 1p/19q traditionally evaluated by fluorescence in situ hybridization (FISH) cannot distinguish partial from whole-arm 1p/19q codeletion. Partial 1p/19q codeletion called positive by FISH is diagnostically a “false-positive” result. Chromosomal microarray (CMA) discriminates partial from whole-arm 1p/19q codeletion. Herein, we aimed to estimate the frequency of partial 1p/19q codeletion that would lead to a false-positive FISH result.MethodsFISH 1p/19q codeletion test probe coordinates were mapped onto Oncoscan CMA data to determine the rate of partial 1p/19q codeletion predicted to be positive by FISH. Diffuse astrocytic gliomas with available CMA data (2015–2018) were evaluated and classified based on IDH1-R132H/ATRX/p53 immunohistochemistry, IDH/TERT promoter targeted sequencing, and/or CMA according to classification updates. Predicted false-positive cases were verified by FISH whenever possible.ResultsThe overall estimated false-positive FISH 1p/19q codeletion rate was 3.6% (8/223). Predicted false positives were verified by FISH in 6 (of 8) cases. False-positive rates did not differ significantly (P = .49) between IDH-mutant (4.6%; 4/86) and IDH-wildtype (2.9%; 4/137) tumors. IDH-wildtype false positives were all WHO grade IV, whereas IDH-mutant false positives spanned WHO grades II-IV. Testing for 1p/19q codeletion would not have been indicated for most false positives based on current classification recommendations.ConclusionSelective 1p/19q codeletion testing and cautious interpretation for conflicting FISH and histopathological findings are recommended to avoid potential misdiagnosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|