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Background  Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) characterized by a  PML-RARA  fusion due to a translocation t(15;17). Its sensitivity to treatment with all-trans retinoic acid (ATRA), which causes differentiation of the abnormal promyelocytes, combined with anthracycline based chemotherapy makes it the best curable subtype of acute myeloid leukemia. A rapid and accurate diagnosis is needed in the first place to prevent (more) bleeding problems. Here we present a patient with a leukemia with an APL-like morphology but no detectable  PML-RARA  fusion, as demonstrated by RT-PCR and cytogenetic analysis.    Results  Unexpectedly, karyotyping revealed numerous double minutes (dmins). Fluorescence in situ hybridization (FISH) with DNA probes specific for the  MYC -region showed the presence of multiple  MYC  amplicons. SNP-array analysis uncovered amplification of the 8q24.13-q24.21 region, including the  MYC -gene, flanked by deletions in 8q24.13 and 8q24.21-q24.22, and a homozygous deletion in 9p21.3, flanked by heterozygous deletions in the same chromosome region.    Conclusions  The diagnosis was revised to AML, not otherwise specified (AML, NOS) and therefore therapy with ATRA was discontinued.

Genomic amplification of MYC as double minutes in a patient with APL-like leukemia