XL t(3;3) GATA2/MECOM DF

Translocation/Dual Fusion Probe

Order Number
D-5124-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
3

Description

XL t(3;3) GATA2/MECOM DF

XL t(3;3) GATA2/MECOM DF consists of a green-labeled probe hybridizing to the GATA2 gene region at 3q21 and an orange-labeled probe hybridizing to the MECOM gene region at 3q26.2.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

The chromosomal aberrations inv(3)(q21q26.2) and t(3;3)(q21;q26.2) characterize a distinct entity within patients with acute myeloid leukemia (AML). Their incidence in AML is about 1-2.5% and patients have an unfavorable prognosis and low response to chemotherapy.
Inv(3)/t(3;3) juxtapose the GATA2 enhancer with the MECOM locus which results in overexpression of EVI1. The EVI1 gene is located in 3q26 and is involved in hematopoietic stem cell maintenance. EVI1 is, together with MDS1, located in the ´MDS1 and EVI1 complex locus´ (MECOM) and is the major player in this subtype of AML.
Furthermore, structural rearrangements caused by inv(3)/t(3;3) result in reduced GATA2 expression which may contribute to the oncogenic potential of this aberration. GATA2 is located in chromosomal region 3q21 and is involved in development and proliferation of hematopoietic stem cells. Several other recurrent 3q26 rearrangements such as t(3;21)(q26;q22), t(3;12)(q26;p13) and t(2;3)(p15-23;q26) are known and many more rearrangements may occur.

Clinical Applications

  • Acute Myelogenous Leukemia (AML)
  • Myelodysplastic Syndrome (MDS)
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Images

XL t(3;3) GATA2/MECOM DF

XL t(3;3) GATA2/MECOM DF hybridized to lymphocytes. One normal interphase and metaphase are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two green-orange colocalization/fusion signals (2GO) resulting from an inversion or reciprocal translocation with breakpoints in the respective loci.

Expected Pattern 3

Aberrant Cell (typical results):
Two green (2G) and three orange (3O) signals resulting from a translocation with breakpoints in the orange labeled gene region and another unknown chromosome.

Expected Pattern 4

Aberrant Cell (typical results):
A deletion of the labeled region in the long arm of chromosome 3 results in the signal pattern one green (1G) and one orange (1O) signal.

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Literature

  • Gröschel et al (2014) Cell 157:369-381
  • De Braekeleer et al (2015) Fut Oncol 11:1675-1686
  • Arber et al (2016) Blood 19:2391-2405

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