Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia.
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.
Barragán
Eva
E
Laboratory of Molecular Biology, Department of Clinical Pathology, Centro Maternal, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain.
Bolufer
Pascual
P
Martín
Guillermo
G
Cervera
José
J
Moreno
Isabel
I
Capote
Francisco J
FJ
Rosique
Pedro
P
Sanz
Miguel A
MA
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
D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein