Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients
- 8 February 2007
- journal article
- research article
- Published by Springer Science and Business Media LLC in Leukemia
- Vol. 21 (4), 725-731
- https://doi.org/10.1038/sj.leu.2404531
Abstract
The spectrum of CBFB-MYH11 fusion transcripts in acute myeloid leukemia (AML) M4eo with inv(16)/t(16;16) is heterogeneous. Approximately 85% show type A CBFB-MYH11 fusion transcripts. In addition, more than 10 different fusion transcripts have been reported. The prognostic impact and biological background of rare fusion transcripts remain open. In this study, a molecular characterization of CBFB-MYH11 transcripts in 162 patients with CBFB-MYH11 positive AML at diagnosis was performed. In total, 128 patients (79.0%) showed the fusion transcript type A, whereas nine different rare CBFB-MYH11 fusion genes were detected in 34 cases (21.0%). Rare fusion transcripts were found more frequently in therapy-related AML (P=0.0106). Numerical gains of the chromosomes 8, 21 and 22 were more frequently associated with type A (28.3%) than with rare fusions (12.9%) (P=0.012). Median white blood cell (WBC) count was higher in type A (35.4 G/l; range=1.1–279 G/l) than in cases with rare types (7.8 G/l; range=0.8–148.0 G/l) (PP=0.0203). Immunophenotype revealed lower CD2, CD13, CD33 and CD90 levels than in type A fusion cases (P=0.036, 0.002, 0.029 and 0.045, respectively). However, the type of fusion was not an independent prognostic parameter.Keywords
This publication has 42 references indexed in Scilit:
- Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specific gene expression profileGenes, Chromosomes and Cancer, 2005
- Karyotype is an independent prognostic parameter in therapy-related acute myeloid leukemia (t-AML): an analysis of 93 patients with t-AML in comparison to 1091 patients with de novo AMLLeukemia, 2003
- Molecular identification of CBFβ-MYH11 fusion transcripts in an AML M4Eo patient in the absence of inv16 or other abnormality by cytogenetic and FISH analyses – a rare occurrenceLeukemia, 2003
- Balanced chromosome abnormalities inv(16) and t(15;17) in therapy‐related myelodysplastic syndromes and acute leukemia: Report from an International Workshop†Genes, Chromosomes and Cancer, 2002
- The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trialBlood, 2001
- Clinical importance of cytogenetics in acute myeloid leukaemiaBest Practice & Research Clinical Haematology, 2001
- Identification of a novel CBFB-MYH11 transcript: implications for RT–PCR diagnosisThe Hematology Journal, 2001
- Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual diseaseLeukemia, 1999
- Identification of the chimeric protein product of the CBFB‐MYH11 fusion gene in inv(16) leukemia cellsGenes, Chromosomes and Cancer, 1996
- Proposals for the Classification of the Acute Leukaemias French‐American‐British (FAB) Co‐operative GroupBritish Journal of Haematology, 1976