XL t(3;3) GATA2/MECOM DF

Translocation/Dual Fusion Probe

Order Number
D-5124-100-OG
Package Size
100 µl
Labels
  
Chromosome
3

Description

XL t(3;3) GATA2/MECOM DF

XL t(3;3) GATA2/MECOM DF is designed as a dual fusion probe. The orange labeled probe spans the breakpoint at 3q26 (MECOM), the green labeled probe spans the breakpoint at 3q21 (GATA2 and RPN1).

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 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)

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.

Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
Two green-orange colocalization/fusion signals (2GO), one separate green (1G) and orange (1O) signal each resulting from an inversion or 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.

Literature

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

Downloads

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