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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest ALL
  • Region 19p13.3
  • Label    
  • Product No. LPH 019 (10 tests)
    LPH 019-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

  • E2A, 19p13.3, Red
  • E2A, 19p13.3, Green

The E2A product consists of a 189kb probe, labelled in red, located centromeric to the E2A (TCF3) gene, including the RH98588 marker, and a green probe covering a 163kb region located telomeric to the E2A gene, including the D19S883 marker.

 

Probe information

The TCF3 (transcription factor 3) gene is located at 19p13.3. Translocations involving TCF3 are some of the most common rearrangements in childhood B-cell acute lymphoblastic leukaemia (ALL)1,2.

Two of the main TCF3 partners are PBX1 (PBX homeobox 1) at 1q23.3 and HLF (HLF transcription factor, PAR bZIP family member) at 17q22. These become fused to TCF3 as a result of the t(1;19)(q23;p13) and t(17;19)(q22;p13) translocations, forming the TCF3-PBX1 and TCF3- HLF fusion genes, respectively. A rare cryptic inversion, inv(19)(p13;q13), has been reported to fuse TCF3 to TFPT (TCF3 fusion partner) resulting in the TCF3-TFPT fusion gene1.

The t(1;19)(q23;p13) is the most common TCF3 rearrangement, being present in around 6% of childhood B-ALL1,2. According to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukaemia, B lymphoblastic leukaemia/lymphoma with t(1;19)(q23;p13); TCF3-PBX1 is recognised as a distinct disease entity2. The functional fusion gene resides at chromosome 19. An unbalanced form of this translocation has been reported, with loss of der(1)1,2. Detection of the E2A-PBX1 fusion by molecular methods, such as FISH, is important, as a subset of B-ALLs has a karyotypically identical t(1;19) that involves neither TCF3 nor PBX1. E2A-PBX1 positive leukaemia was historically associated with a poor outcome, though modern intensive therapies have overcome this1,2,4.

The t(17;19)(q22;p13.) is a rare translocation that is present in around 1% of precursor B-ALL cases1. TCF3-HLF positive leukaemia is associated with adverse prognosis3,4.

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References

  1. Van der Burg et al., Leukemia 2004;18(5):895-908
  2. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  3. Mullighan, The Journal of Clinical Investigation 2012;122(10):3407-3415
  4. Moorman et al., Lancet Oncol Haematol. January 2012

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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