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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest AML
  • Region 16q22 / 16p13.11
  • Label    
  • Product Code LPH 022 (10 tests)
    LPH 022-S (5 tests)
  • Regulatory Status In vitro diagnostic. 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.



Probe specification

  • 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.


Probe information

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.

What our customers say


  1. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  2. Hernández et al., Haematologica 2000;85(5):481-5.
  3. Moreno-Miralles et al., J Biol Chem 2005;280(48):40097-103
  4. Grimwade et al., Blood 2010;116(3):354-365

Recommended protocol for CytoCell haematology FISH

Select a protocol step to view:

Sample and slide preparation

1. Sample & Slide Prep Dark Blue
  • Spot the cell sample onto a glass microscope slide. Allow to dry.
  • Immerse the slide in 2x Saline Sodium Citrate (SSC) for 2 minutes at room temperature (RT) without agitation.
  • Dehydrate in an ethanol series (70%, 85% and 100%), each for 2 minutes at RT.
  • Allow to dry.
Haematology FISH protocol Video Image
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Haematology FISH protocol

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