XL del(7)(q22q31)

Deletion Probe

Order Number
D-5068-100-TC
Package Size
100 µl (10 Tests)
Labels
   
Chromosome
7

Description

XL del(7)(q22q31)

The XL del(7)(q22q31) 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 7q31 and includes the MET proto-oncogene. A blue (aqua) labeled probe which hybridizes to the centromere of chromosome 7 functions as a reference probe.

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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).

Partial or complete deletion of chromosome 7 is a common finding in MDS and AML. At least three distinct regions of common deletions have been identified: the band 7q22 and the more telomeric regions 7q31-32 and 7q36. In most studies monosomy 7/del 7q indicates as an isolated abnormality a significantly worse prognosis.

Clinical Applications

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

XL del(7)(q22q31)

XL del(7)(q22q31) hybridized to lymphocytes. Two normal interphases are shown.

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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 2 blue (2B) signals indicating the deletion of a 7q22 locus or one green (1G), two orange (2O), and 2 blue (2B) signals, indicating the deletion of a 7q31 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 7q31 locus.

Expected Pattern 4

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

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Literature

  • LeBeau et al (1996) Blood 88:1930-1935
  • Liang et al (1998) Proc Natl Acad Sci USA 95:3781-3785
  • Haase D (2008) Ann Hematol 87:515-526

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