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August 10, 2011

Whole-Genome Sequencing and Acute Promyelocytic Leukemia

Author Affiliations

Author Affiliations: Laboratory of Neuro-Oncohematology, Fondazione Santa Lucia, Rome, Italy (Dr Lo-Coco) (francesco.lo.coco@uniroma2.it); and Department of Hematology, University of Valencia, Valencia, Spain (Dr Sanz).

JAMA. 2011;306(6):610-611. doi:10.1001/jama.2011.1108

To the Editor: Dr Welch and colleagues described a patient with a difficult case of acute myeloid leukemia (AML) in which whole-genome sequencing allowed diagnosis of a specific leukemia subset and led to treatment modifications.1 Using whole-genome sequencing, acute promyelocytic leukemia (APL) with a cryptic t(15;17) translocation leading to the PML-RARA fusion gene was recognized in a time frame of 6 weeks. PML-RARA is a unique genetic lesion specifically characterizing APL patients responsive to retinoids.2 Once correctly diagnosed, the patient could receive adequate postremission treatment and was spared allogeneic stem cell transplantation.1 The authors concluded that whole-genome sequencing was able to identify cytogenetically invisible oncogenes in a clinically relevant time frame.