XL MECOM 3q26

Break Apart Probe

Order Number
D-5059-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
3

Description

XL MECOM 3q26

XL MECOM 3q26 consists of an orange-labeled probe hybridizing proximal to the MECOM gene region at 3q26.2 and a green-labeled probe hybridizing distal to the MECOM gene region also spanning a distal part of the 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

Myelodysplastic syndromes and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008), cytogenetic aberrations are observed in about 50% of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3;3).

Chromosomal translocations involving the EVI1 locus are a recurrent finding in myeloid leukemia and are associated with poor prognosis. Two common recurrent rearrangements affect the 3q26 locus. One is the inv(3)(q21q26) and the translocation t(3;3)(q21;q26), in which EVI1 overexpression is caused by juxtaposition of the EVI1 gene to enhancer elements of the Ribophorin gene at 3q21. EVI1 activation is also observed in the translocations t(3;12)(q26;p13) and t(3;21)(q26;q22) and is due to generation of the fusion genes ETV6/EVI1 and RUNX1/EVI1, respectively.

Clinical Applications

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

XL MECOM 3q26

XL MECOM 3q26 hybridized to lymphocytes. One normal metaphase and one normal interphase are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green-orange colocalization/fusion signals (2GO).

Expected Pattern 2

Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the relevant locus.

Expected Pattern 3

Aberrant Cell (typical results):
Two green-orange colocalization/fusion signals (2GO) and one separate green (1G) signal indicating a chromosome break at a more distal region of the locus covered by the green probe.

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Literature

  • Lugthart et al (2008) Blood 111:4329-4337
  • De Melo et al (2008) Leukemia 22:434-437
  • De Braekeleer et al (2011) Anticancer Res 31:3441-3448

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