Abstract
tive. At this time, the real value of whole-genome sequencing will be for unusual cases like this one, or for AML patients with intermediate-risk cytogenetic studies, for whom the decision to transplant in first remission is now being honed by an ever more complex clinical diagnostic testing algorithm. Whole-genome sequencing may well play a role in the care of these patients in the near future. Lo-Coco and Sanz also suggest that PML antibody staining could have been used as an alternative diagnostic tool for suspected APL. Although this study could be helpful in selected cases, it is not generally available in the United States as a Clinical Laboratory Improvement Amendments– approved diagnostic test. Further, it would not have resolved the molecular mechanism causing APL in a patient without a detectable t(15;17). Only whole-genome sequencing allowed us to define the precise structure of the genomic event that created the patient’s insertional PML-RARA fusion. The identification of this insertional fusion has allowed for the generation of new fluorescence in situ hybridization probes that will aid in the diagnosis of unusual APL cases like this one in the future.
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