Cryptic insertion of PML-RARA into the 3p25 locus in an acute promyelocytic leukemia with t(3;17)(p25;q21)

Abstract

We previously reported a case of a 72 year old man with acute promyelocytic leukemia with karyotype 47XYt(3;17)(p25;q21), +8. Fluorescent in-situ hybridization failed to show rearrangement of the PML locus but did demonstrate relocalization of the retinoic acid receptor alpha (RARA) to chromosome 3. We performed a modified panhandle PCR 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 abnromalities.