Value of oligonucleotide-based array comparative genomic hybridization for diagnosis of acute promyelocytic leukemia in a patient negative for t(15;17)(q24.1;q21.2)/promyelocytic leukemia-retinoic acid receptor, alpha by conventional cytogenetics and fluorescence in situ hybridization

摘要

Patients with acute promyelocytic leukemia (APL) are at risk of potentially lethal coagulopathy if appropriate therapy is delayed, and fluorescence in situ hybridization (FISH) studies for t(15;17)(q24.1;q21.2)/pro-myelocytic leukemia (PML)-retinoic acid receptor, alpha (RARA) have become a standard of care to rapidly establish the diagnosis. However, in a small subset of APL cases, FISH and conventional cytoge-netic studies give a false negative result. If there is a discrepancy between the morphologic picture and cytogenetic/FISH results, other methods such as immunofluorescence staining with an anti-PML antibody or real-time quantitative reverse transcription polymerase chain reaction should be used. An oligonucleotide-based array comparative genomic hybridization method could be helpful to confirm t(15;17)(q24.1;q21.2).