XL 7q22/7q36

Deletion Probe

Order Number
D-5043-100-TC
Package Size
100 µl
Labels
   
Chromosome
7

Description

XL 7q22/7q36

The XL 7q22/7q36 locus-specific probe detects deletions in the long arm of chromosome 7. The orange labeled probe hybridizes to a specific region at 7q22 including the KMT2E (formerly MLL5) gene. The green labeled probe hybridizes specifically to 7q36 and includes the EZH2 gene. A blue (aqua) labeled probe which hybridizes to the centromere of chromosome 7 functions as a reference probe.

Clinical Details

The 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).

Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurring chromosome abnormalities in myeloid leukemias. The association of -7/7q- with myeloid leukemia suggests that certain regions contain tumor suppressor gene(s), whose loss of function contribute to leukemic transformation or tumor progression. Two critical regions have been identified, one in band 7q22 including the KMT2E gene and another in bands 7q35-q36 comprising the EZH2 gene.

Clinical Applications

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

Images

XL 7q22/7q36

XL 7q22/7q36 hybridized to lymphocytes. Two normal interphases are shown.

Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
Two green (2G), one orange (1O), and two blue (2B) signals indicating the deletion of a 7q22 locus or one green (1G), two orange (2O), and two blue (2B) signals, indicating the deletion of a 7q36 locus.

Expected Pattern 3

Aberrant Cell (typical results): One green (1G), one orange (1O), and two blue (2B) signals indicating the deletion of a 7q22 locus and of a 7q36 locus.

Expected Pattern 4

Aberrant Cell (typical results): One green (1G), one orange (1O), and one blue (1B) signal indicating a monosomy 7.

Literature

  • Le Beau et al (1996) Blood 88:1930-1935
  • Emerling et al (2002) Oncogene 21:4849 - 4854
  • De Weer et al (2010) PLoS One 13:e8676

Downloads

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