CBFβ/MYH11 Translocation, Dual Fusion
- CBFβ, 16q22, Red
- MYH11, 16p13.11, Green
The CBFβ probe, labelled in red, covers a 617kb region, within 16q22.1 and includes the CBFβ gene. The MYH11 probe, labelled in green, covers a 621kb region within 16p13.11 and includes the MYH11 gene.
The CBFβ (core-binding factor subunit beta) gene is located at 16q22.1 and the MYH11 (myosin heavy chain 11) gene is located at 16p13.11. The inversion inv(16)(p13.11q22.1) and the translocation t(16;16) (p13.11;q22.1) give rise to the CBFβ-MYH11 fusion gene.
Acute myeloid leukaemias with inv(16)(p13.11q22.1) or t(16;16)(p13.11;q22.1) form a recognised disease entity according to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukaemia1. These rearrangements are frequently found in patients with a myelomonocytic subtype with increased bone marrow eosinophils, AML FAB (French-American-British classification) type M4Eo, and are found in 5-8%1 of all AMLs. Cases of therapy- related AML may also have this rearrangement1,2.
CBFB-MYH11 rearrangements are classed as a favourable cytogenetic risk group in patients with AML3,4.
The breakpoints occur in intron 5 of CBFB and intron 5 of MYH11. The N-terminal of CBFB fuses to the C-terminal of MYH11 with its multimerisation domain. The resultant chimeric protein reduces the amount of active CBF. An accumulation of CBFB-MYH11/CBFA multimers in the nucleus also occurs. CBFB regulates expression of certain ADP-ribosylation factors (ARFs) and other tumour suppressor genes (TSGs) and therefore the fusion protein is thought to repress TSG expression3.
Not only do Cytocell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results. Dr Eric Crawford, Senior Director, Genetics Associates Inc.
- Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
- Hernández et al., Haematologica 2000;85(5):481-5.
- Moreno-Miralles et al., J Biol Chem 2005;280(48):40097-103
- Grimwade et al., Blood 2010;116(3):354-365
- Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
- Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
- Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.
- Area of Interest*
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.