title: Cryptic insertion of PML-RARA into the 3p25 locus in an acute promyelocytic leukemia with t(3;17)(p25;q21).
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.
authors.affiliation: Department of Medicine, Division of Hematology/Oncology, University of Pittsburgh and UP Cancer Institute, 5117 Centre Ave., Pittsburgh, PA 15213, USA.
authors.forename: Anuja
authors.initials: A
authors.lastname: Chattopadhyay
authors.forename: Robert L
authors.initials: RL
authors.lastname: Redner
mesh_terms: D000368:Aged; D001483:Base Sequence; D015139:Blotting, Southern; D002886:Chromosomes, Human, Pair 17; D002893:Chromosomes, Human, Pair 3; D017931:DNA Primers; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers; D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein