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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest AML
  • Region 16q22
  • Label    
  • Product No. LPH 089 (10 tests)
    LPH 089-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

  • CBFB, 16q22, Red
  • CBFB, 16q22, Green

The CBFB Breakapart Probe mix consists of two distinct probes. The red probe (292kb) is centromeric to the CBFB gene and extends beyond the RH104363 marker to cover part of the DYNC1LI2 gene and includes the markers SHGC-60620 and SHGC-58067. The green probe (309kb) is telomeric to the CBFB gene and extends through the marker RH78922 beyond the ZDHHC1 gene to a region telomeric to the marker RH11782.

 

Probe information

The CBFB (core-binding factor subunit beta) gene is located at 16q22, it is most commonly rearranged due to the inversion inv(16)(p13.11q22.1) or the translocation t(16;16)(p13.11;q22.1). Rarely, translocations of 16q22 with various other gene partners have been reported, whilst deletion of the band 16q22 has also been reported1.

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 Organisation (WHO) classification of myeloid neoplasms and acute leukaemia2. These rearrangements are frequently found in patients with a myelomonocytic subtype with increased bone marrow eosinophils, formerly referred to as AML FAB (French-American-British classification) type M4Eo, and are found in 5-8%2 of AMLs. Cases of therapy-related AML may also have this rearrangement2,3.

Inversion inv(16)(p13.11q22.1) or translocation t(16;16)(p13.11;q22.1) produce CBFB-MYH11 gene rearrangements, and are classed as a favourable cytogenetic risk group in patients with AML4,5,6.

For both inversion inv(16)(p13.11q22.1) or the translocation t(16;16)(p13.11;q22.1), 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 multimerization domain. The resultant chimaeric protein reduces the amount of active CBF. An accumulation of CBFB-MYH11/CBFA multimers in the nucleus also occurs. CBFB regulates the expression of certain ADP-ribosylation factors (AFRs) and other tumour suppressor genes (TSGs) and therefore the fusion protein is thought to repress TSG expression4. This fusion protein has been shown to be necessary, but not solely sufficient for leukaemogenesis, and work continues to determine how the protein appears to work collaboratively with RUNX1 to mediate the proliferative signal and cell differentiation block required for development of leukaemia7,8.

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References

  1. Huret JL. Atlas Genet Cytogenet Oncol Haematol. 1999; 3(3):147-149.
  2. Swerdlow, et al. (eds.) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, France, 4th edition, IARC, 2017
  3. Hernández JM, et al. Haematologica. 2000; 85(5):481-5.
  4. Moreno-Miralles I, et al. J Biol Chem. 2005;280(48):40097-103.
  5. Grimwade D, et al. Blood. 2010;116(3):354-365.
  6. Litzow MR. Haematologica. 2020;105(6):1475-77.
  7. Rao S. Blood. 2020;136(21):2361-2362.
  8. Zhen T, et al. Blood. 2020;136(21):2373-2385.

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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