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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest AML
  • Region 16q22 / 16p13.11
  • Label    
  • Product No. LPH 022 (10 tests)
    LPH 022-S (5 tests)
  • Intended use 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.

Chromomaps

Overview

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.

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References

  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

Sample and slide preparation Thumbnail
  • 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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