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August 10, 2011

Whole-Genome Sequencing and Acute Promyelocytic Leukemia—Reply

Author Affiliations

Author Affiliations: Department of Medicine, Washington University School of Medicine, St Louis, Missouri (timley@wustl.edu).

JAMA. 2011;306(6):610-611. doi:10.1001/jama.2011.1109

In Reply: We agree with Drs Lo-Coco and Sanz that the presentation of APL represents a potential medical emergency and that immediate diagnosis and initiation of appropriate therapy are necessary to ensure a favorable outcome. In the case described, however, we were confronted with a patient with a clinical APL presentation who had already been induced to complete remission at another hospital. The issue that faced us was optimal postremission therapy in a young patient with a complex karyotype and no evidence for t(15;17), which suggested the need for allogeneic transplantation in first remission. The decision whether to transplant was the one that required the 6- to 8-week time frame. The fact that whole-genome sequencing was capable of resolving this dilemma is not intended to make the case that this procedure should replace standard diagnostic assays available for APL, but simply to show that it could be exploited as a clinical diagnostic tool when the sample material for other forms of testing is unavailable or uninformative. 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.

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