XL 5q32 PDGFRB BA

Break Apart Probe

Order Number
D-5104-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
5

Description

XL 5q32 PDGFRB BA

XL 5q32 PDGFRB BA consists of an orange-labeled probe hybridizing proximal to the PDGFRB gene region at 5q32 and a green-labeled probe hybridizing distal to the PDGFRB gene region at 5q32-33.1.

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

The updated (2016) World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues indicates the category myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1, or with PCM1-JAK2.

Myeloid neoplasms (MPNs) with rearrangement of PDGFRB are phenotypically and genotypically diverse. The fusion genes involving PDGFRB described to date have been associated with cytogenetically detectable translocations. MPNs associated with rearrangement of PDGFRB are responsive to imatinib.

Clinical Applications

  • Chronic Myelogenous Leukemia and Myeloproliferative Neoplasms (CML/MPN)
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Images

XL 5q32 PDGFRB BA

XL 5q32 PDGFRB BA hybridized to lymphocytes. Three normal interphases 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.

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Literature

  • Wlodarska et al (1997) Blood 89:1716-1722
  • Apperley et al (2002) N Engl J Med 347:481-487
  • Wilkinson et al (2003) Blood 102:4187-4190

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