die of BM failure. This similarity to MDS-Mut in clinical presentation and natural history raises the possibility that MDS-NDM cases may harbor mutations in genes not covered in standard sequencing… Click to show full abstract
die of BM failure. This similarity to MDS-Mut in clinical presentation and natural history raises the possibility that MDS-NDM cases may harbor mutations in genes not covered in standard sequencing panels, or not detected in clinical NGS panels due to technical limitations. Alternatively, other mechanisms driving altered DNA methylation and/or transcriptional reprogramming warrant further investigation. Our data indicate that a lack of pathogenic mutations detected by standard clinical NGS panels in a patient with persistent cytopenia should not exclude a diagnosis of MDS if there is sufficient morphologic dysplasia and the absence of competing etiologies for persistent cytopenia.
               
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