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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest ALL
  • Region 4q21.3-q22.1
    11q23.3
  • Label    
  • Product No. LPH 081 (10 tests)
    LPH 081-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

  • MLL, 11q23.3, Green
  • AFF1, 4q21.3-q22.1, Red

The MLL probe, labelled in green, covers a 200kb region including the MLL (KMT2A) gene. The AFF1 probe, labelled in red, consists of four clones (220kb, 61kb, 110kb and 211kb) covering the AFF1 gene and surrounding regions.

 

Probe information

The KMT2A (lysine methyltransferase 2A) gene located at 11q23.3 and AFF1 (AF4/FMR2 family member 1) gene at 4q21.3 are involved in translocation t(4;11)(q21;q23.3), the most frequently observed translocation involving the KMT2A gene, in acute lymphoblastic leukaemia (ALL)1.

The t(4:11)(q21;q23.3) translocation results in the generation of two reciprocal fusion genes: KMT2A-AFF1 and AFF1-KMT2A – the leukaemic properties of the first have been documented but the role of the AFF1-KMT2A fusion protein is still under debate2,3,4.

UK best practice guidelines suggest that, if chromosome analysis is unsuccessful but FISH indicates a rearrangement of KMT2A, then further attempts to identify the t(4;11) must be made as the t(4;11)(q21;q23) is associated with a poor prognosis, and patients with this translocation may be treated on the high risk arm of MRC protocols5.

The MLL/AFF1 translocation, dual fusion probe allows both fusion genes, generated by the t(4;11)(q21;q23) translocation, to be detected.

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References

  1. Meyer et al., Leukemia 2009;23(8):1490-9
  2. Smith et al., Genes Dev. 2011;25(7): 661-72
  3. Kumar et al., Leuk Res. 2011;35(3):305-9
  4. Bursen et al., Blood. 2010; 29;115(17):3570-9
  5. Professional Guidelines for Clinical Cytogenetics: Acute Lymphoblastic Leukaemia Best Practice Guidelines (2011) V1.00. www.cytogenetics.org.uk

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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