Objectives: The current standard of practice for evaluation of myelodysplastic syndromes (MDS) includes peripheral blood and bone marrow morphology review and conventional karyotyping. Karyotype provides a global view of the chromosome complement while fluorescence in situ hybridization (FISH) targets specific abnormalities. The aim of this study was to determine if an MDSFISH panel would add value beyond karyotype in MDS workup. Methods: We studied 505 patients who were evaluated for a possible MDS and had concurrent bone marrow examination, karyotyping, and MDS-FISH performed. Results: In total, 462 cases had adequate karyotyping (≥20 metaphases) and showed excellent concordance (96%, 445/462) between karyotyping and MDS-FISH. Additional FISH abnormalities had no impact on diagnosis and minimal impact on the cytogenetic prognostic scoring in the myeloid neoplasm cases (2%, 4/206). The concordance rate dropped to 82% (32/39) in the group with insufficient karyotyping (≥20 metaphases), and additional FISH findings in this subgroup had no impact on the diagnosis but altered the cytogenetic prognostic scoring in 10% (2/20) of myeloid neoplasm cases. Conclusions: In the evaluation of a possible MDS, FISH rarely provides additional value when karyotype is adequate. We propose a value-based, cost-effective algorithmic approach for conventional karyotyping and FISH testing in routine MDS workup.
- Molecular diagnostics
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