XL NUP98

Break Apart Probe

Order Number
D-5077-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
11

Description

XL NUP98

XL NUP98 consists of an orange-labeled probe hybridizing proximal to the NUP98 gene region at 11p15.4 and a green-labeled probe hybridizing distal to the NUP98 gene region at 11p15.4.

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

Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myelogenous leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.

Translocations involving nucleoporin 98kD (NUP98) on chromosome 11p15 occur at relatively low frequency in AML, but can be missed with routine karyotyping. NUP98 is known to be fused to at least 28 different partner genes in patients with hematopoietic malignancies, including acute myeloid leukemia, chronic myeloid leukemia in blast crisis, myelodysplastic syndrome, acute lymphoblastic leukemia, and bilineage/biphenotypic leukemia.

Clinical Applications

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

XL NUP98

XL NUP98 was hybridized to lymphocytes. One normal interphase is shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and one green-orange (1GO) fusion signal, indicating a chromosome break in the NUP98 locus.

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Literature

  • Nebral et al (2005) Haematologica 90:746-752
  • Romana et al (2006) Leukemia 20:696-706
  • Gough et al (2011) Blood 118:6247-6257

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