AI Article Synopsis
- - Oligodendroglioma diagnosis relies on detecting IDH mutations and 1p/19q codeletion, but traditional FISH testing can inaccurately show partial codeletions as positive, leading to false-positive results.
- - Researchers used chromosomal microarray data to assess the frequency of false positives in FISH codeletion tests and found a 3.6% misdiagnosis rate.
- - The study recommends careful testing and interpretation of 1p/19q codeletion results, especially when there are inconsistencies between FISH and histopathological findings, to minimize misdiagnosis risks.
Article Abstract
Background: Oligodendroglioma is genetically defined by concomitant IDH () 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.
Methods: FISH 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/ promoter targeted sequencing, and/or CMA according to classification updates. Predicted false-positive cases were verified by FISH whenever possible.
Results: The 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 ( = .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.
Conclusion: Selective 1p/19q codeletion testing and cautious interpretation for conflicting FISH and histopathological findings are recommended to avoid potential misdiagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654379 | PMC |
| http://dx.doi.org/10.1093/noajnl/vdaa109 | DOI Listing |
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