title: Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia.
abstract: We identified two patients with atypical PML-RAR(alpha) rearrangements, 53 and 13 base pairs longer than the typical bcr1 transcript. Sequence analysis revealed a new PML breakpoint at the end of exon 7a in patient 1, and a PML exon 6 breakpoint in patient 2, with an insertion of 35 nucleotides of RAR(alpha) intron 2. Patient 1 did not express RAR(alpha)-PML and patient 2 showed the RAR(alpha)-PML transcript, which corresponded to the typical bcr1. These results emphasize on the relevance of the correct identification of atypical PML-RAR(alpha) rearrangements because of the potential implications in leukemogenesis, in the response to treatment, and for the correct monitoring of minimal residual disease.
authors.affiliation: Laboratory of Molecular Biology, Department of Clinical Pathology, Centro Maternal, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
authors.forename: Pascual
authors.initials: P
authors.lastname: Bolufer
authors.forename: Guillermo
authors.initials: G
authors.lastname: Martín
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Isabel
authors.initials: I
authors.lastname: Moreno
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Capote
authors.forename: Pedro
authors.initials: P
authors.lastname: Rosique
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Sanz
mesh_terms: D000328:Adult; D001483:Base Sequence; D015321:Gene Rearrangement; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein