An ider(17)(q10)t(15;17) with spliced long-type PML-RARA fusion transcripts in a case of acute promyelocytic leukemia

The ider(17)(q10)t(15;17) is a relatively rare chromosomal rearrangement in acute promyelocytic leukemia patients. We describe herein a case of APL with a poor prognosis and ider(17)(q10)t(15;17)(q22;q12), which was confirmed by fluorescence in situ hybridization. Reverse transcription polymerase chain reaction (RT-PCR) and sequencing of PCR products were used to detect the PML-RARA fusion gene and delineate the sequence of the fusion transcripts. We found that the PML-RARA fusion gene of this patient was the long isoform, which only generated transcripts of a splice variant lacking PML exon 5 and a splice variant lacking PML exons 5 and 6. Although the clinical and prognostic significance of patients with an ider(17)(q10)t(15;17) remains unclear, a combination of cytogenetics and molecular biology analysis should be performed to obtain further information about this chromosomal abnormality.