Type J CBFbeta/MYH11 transcript in the M4Eo subtype of acute myeloid leukemia.
Acute myeloid leukemia (AML) carrying inversion or translocation of chromosome 16 is usually associated with the FAB M4Eo morphological subtype and belongs to AMLs with a relatively favorable prognosis. At the molecular level, it is associated with a disease-specific fusion gene, CBFbeta/MYH11. Previously, 10 different types of CBFbeta/MYH11 fusion transcripts have been described in the literature, 7 of them are still known as unique cases. In the current study, peripheral blood and/or bone marrow samples from 265 AML patients were tested for the presence of the CBFbeta/MYH11 fusion using RT-PCR and 12 (4.5%) positive cases were identified. The most common type A CBFbeta/MYH11 transcript was confirmed in 11 patients. The transcript in the remaining one (a 71-year-old female) was different and sequence analysis allowed us to classify it as CBFbeta/MYH11 type J. In contrast to the first type J case previously reported from Australia, this patient exhibited a typical FAB M4Eo morphology. The evidence of the second case indicates that the type J breakage might be a non-random event within the MYH11 gene.
Trnková
Zuzana
Z
Institute of Hematology and Blood Transfusion, U Nemocnice 1, CZ-128 20, Prague, Czech Republic.
Peková
Sona
S
Bedrlíková
Renáta
R
Záková
Dana
D
Zemanová
Zuzana
Z
Polák
Jaroslav
J
Michalová
Kyra
K
Cermák
Jaroslav
J
Schwarz
Jirí
J
D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000737:chemistry / Q000235:genetics*; D019457:Chromosome Breakage; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics / Q000648:ultrastructure; D015331:Cohort Studies; D005260:Female; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000737:chemistry / Q000145:classification / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D014408:Biomarkers, Tumor; C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D012334:RNA, Neoplasm