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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest ALL, AML
  • Region 11q23.3
  • Label    
  • Product No. LPH 013 (10 tests)
    LPH 013-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, Red
  • MLL, 11q23.3, Green

The MLL product consists of an 87kb probe, labelled in red, covering a region telomeric to the MLL (KMT2A) gene including the marker SHGC-111513 and a green probe covering a 170kb region centromeric to the MLL gene spanning the CD3G and UBE4A genes.

 

Probe information

The KMT2A (lysine methyltransferase 2A) gene at 11q23.3 is commonly rearranged in acute leukaemias, especially in infant leukaemia and in secondary leukaemia, following treatment with DNA topoisomerase II inhibitors1.

The KMT2A gene has a great homology with the drosophila trithorax gene and encodes for a histone methyltransferase, which functions as an epigenetic regulator of transcription. KMT2A translocations result in the production of a chimeric protein in which the amino-terminal portion of KMT2A is fused to the carboxy-terminal portion of the fusion partner gene. The functional protein plays a critical role in embryonic development and haematopoiesis1,2,3,4.

KMT2A rearrangements can be detected in approximately 80% of infants with acute lymphoblastic leukaemia (ALL) and in 5-10% of paediatric and adult ALLs3,4. They can also be found in 60% of infant acute myeloid leukaemia (AML) and in 3% of de novo and 10% of therapy related adult AML cases3,5. To date, more than 70 partners have been identified with the most common translocations being MLL-AFF1; t(4;11) (q21;q23.3), MLL-MLLT4; t(6;11)(q27;q23.3), MLL-MLLT3;t (9;11) (p22;q23.3) and MLL-MLLT1; t(11;19)(q23.3;p13.3)1.

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References

  1. Tamai, Inokuchi, J Clin Exp Hematopathol 2010;50(2):91-98
  2. Wright, Vaughan, Critical Reviews in Oncology/Hematology 2014;91(3):283-291
  3. Van der Burg et al., Leukemia 2004;18(5):895-908
  4. Tomizawa, Pediatr Int 2015;57(8):811-819
  5. Grossman et al., Leukemia 28 March 2013; doi10.1038/leu.2013.90

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.

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