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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest ALL
  • Region 14q11.2
  • Label    
  • Product No. LPH 047 (10 tests)
    LPH 047-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

  • TCRAD, 14q11.2, Red
  • TCRAD, 14q11.2, Green

The TCRAD product consists of a 225kb probe, labelled in red, located at the centromeric end of the Variable Region of the immunoglobulin gene cluster, including the G36107 marker and a green probe covering a 143kb region located telomeric to the TRAC gene, including the entire OXA1L gene and the G35927 marker.

 

Probe information

Chromosomal translocations with breakpoints in alpha and delta T-cell receptor (TCR) gene loci at 14q11.2 are recurrent in several T-cell malignancies including T-cell acute lymphoblastic leukaemia (T-ALL)1.

T-cell acute lymphoblastic leukaemia (T-ALL) is an aggressive malignancy of the lymphoblasts committed to the T-cell lineage and represents 15% of childhood and 25% of adult ALL2,3. Karyotyping reveals recurrent translocations that activate a small number of oncogenes in 25-50% of T-ALLs but, with FISH, further cryptic abnormalities can be revealed2.

The most common chromosomal rearrangements, found in about 35%2 of T-ALLs, involve the alpha and delta T-cell receptor loci (TRA and TRD) at 14q11.2, the beta TCR locus (TRB) at 7q34 and the gamma TCR (TRG) at 7p14. In most cases the juxtaposition of oncogenes next to the TCR regulatory sequences leads to the deregulated expression of these genes2,4,5.

The TRA/D complex at 14q11.2 has been shown to be involved in a number of different translocations in T-ALL. These include the t(10;14)(q24;q11) involving TLX1; the t(1;14)(p32;q11) involving TAL1; the t(14;21)(q11;q22) involving the OLIG2; the t(11;14)(p15;q11) involving LMO1 and the t(11;14)(p13;q11) involving LMO22.

In addition to T-ALL, TRA/D translocations are recurrent in T-non- Hodgkin’s lymphoma and T-prolymphocytic leukaemia. They have also been reported in cases of ataxia telangiectasia (AT)1.

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References

  1. Rack et al., Blood 1997;90(3):1233-1240
  2. Graux et al., Leukemia 2006;20:1496-1510
  3. Cauwelier et al., Leukemia 2007;21:121-128
  4. Swerdlow et al.,editors, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, Lyon, France, IARC:2008
  5. Gesk et al., Leukemia 2003;17:738-745

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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