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)

XL del(7)(q22q31) consists of an orange-labeled probe hybridizing to the KMT2E gene region at 7q22, a green-labeled probe hybridizing to the MET gene region at 7q31.2 and an aqua-labeled probe hybridizing to the centromere of chromosome 7.

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 (MDS) and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2017), recurrent 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 recurrent chromosome abnormalities in myeloid leukemias such as MDS or acute myeloid leukemia (AML). 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. Multiple critical regions have been identified: one in band 7q22 (including the KMT2E gene), the more telomeric region 7q31 and 7q35-q36 (including the EZH2 gene).

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
  • Emerling et al (2002) Oncogene 21:4849-4854
  • De Weer et al (2010) PLoS One 13:e8676

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