Journal article
The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia
Alberto Catalano, Mark A Dawson, Karthiga Somana, Stephen Opat, Anthony Schwarer, Lynda J Campbell, Harry Iland
BLOOD | AMER SOC HEMATOLOGY | Published : 2007
Abstract
We report the molecular and cytogenetic characterization of a novel variant of acute promyelocytic leukemia (APL). The bone marrow showed 88% hypergranular promyelocytes, and the karyotype was 47,XY,+22 [5]/46,XY[30]. Fluorescence in situ hybridization (FISH) indicated disruption and deletion of the 5'-end of the RARA gene. Treatment with all-trans retinoic acid, idarubicin, and arsenic trioxide induced cytogenetic complete remission without morphologic evidence of residual leukemia. The diagnostic marrow was negative for PML-RARA transcripts by reverse transcription-polymerase chain reaction (RT-PCR), but an atypical product was observed. Sequencing showed partial homology to the PRKAR1A ge..
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