title: 5'RARA submicroscopic deletion from new variant translocation involving chromosomes 15, 17, and 18, in a case of acute promyelocytic leukemia.
abstract: Submicroscopic deletions of the PML-RARA fusion genes constitute rare rearrangements in acute promyelocytic leukemia (APL). We describe a rare case of APL carrying a novel complex translocation involving chromosomes 15, 17, and 18 associated with a submicroscopic deletion of the 5' part of the RARA gene, as evidenced by fluorescence in situ hybridization (FISH). A PML/RARA dual-fusion probe did not reveal the RARA-PML fusion signal on the der(17q), usually detected in the typical t(15;17). The RARA break-apart probe showed a deletion hybridization pattern with loss of the signal corresponding to the 5' portion of the RARA gene. Reverse transcriptase-polymerase chain reaction confirmed the absence of the fusion RARA-PML transcript. The patient achieved complete remission, but died during consolidation therapy, 2 months after diagnosis. To our knowledge, this is the first reported case of APL with a complex variant t(15;17) involving chromosome 18 at band q12 and one of the very rare described cases displaying a submicroscopic deletion of the RARA 5' region. Further cases are needed to delineate the incidence of submicroscopic deletions in APL and elucidate their prognostic impact.
authors.affiliation: National Center for Scientific Research Demokritos, Athens, Greece.
authors.forename: Chryssa
authors.initials: C
authors.lastname: Stavropoulou
authors.forename: Vasileios N
authors.initials: VN
authors.lastname: Georgakakos
authors.forename: Kalliopi N
authors.initials: KN
authors.lastname: Manola
authors.forename: Maria
authors.initials: M
authors.lastname: Pagoni
authors.forename: Maria
authors.initials: M
authors.lastname: Garofalaki
authors.forename: Gabriel E
authors.initials: GE
authors.lastname: Pantelias
authors.forename: Constantina
authors.initials: C
authors.lastname: Sambani
mesh_terms: D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D017384:Sequence Deletion; D014178:Translocation, Genetic
chemical_list: C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha