Abstract

We studied a case of a 72-year-old man with acute promyelocytic leukemia and a t(3;17)(p25;q21). Fluorescence in situ hybridization failed to show rearrangement of the PML (promyelocytic leukemia protein) locus but did demonstrate relocalization of the retinoic acid receptor alpha ( RARA) to chromosome 3. We performed a modified panhandle polymerase chain reaction analysis to investigate the unknown 5′ partner. Our analysis indicates that the fusion partner is PML. This karyotype therefore results in a cryptic PML -RARA fusion inserted into the 3p25 locus. Our case highlights the need for molecular analysis of seemingly novel karyotypic abnormalities.

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