XL 4q12 DC

Translocation/Deletion Probe

Order Number
D-5123-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
4
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL 4q12 DC

XL 4q12 DC consists of a green-labeled probe hybridizing proximal to the FIP1L1 gene region at 4q12, an orange-labeled probe hybridizing to the CHIC2 gene region at 4q12 and another green-labeled probe hybridizing to the PDGFRA gene region at 4q12.

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 category ´myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1/JAK2´ of the revised 4th edition of the WHO classification defines three particular groups with rearrangements in PDGFRA, PDGFRB or FGFR1 and a provisional entity with PCM1/JAK2 rearrangement. The clinical manifestations within this category are numerous and heterogeneous and include myeloproliferative neoplasms, myelodysplastic syndromes as well as de novo or secondary mixed phenotype acute leukemias and lymphomas. Neoplasms with eosinophilia are associated with dysregulated tyrosine kinases, usually as a result of gene fusions. It is of great importance to identify the genes involved because aberrant tyrosine kinases react to tyrosine kinase inhibitors with varying sensitivity. Patients with PDGFRA and PDGFRB rearrangements are responsive to imatinib, whereas FGFR1-related diseases are non-responsive. PDGFRA rearrangements are usually associated with chronic eosinophilic leukemia (CEL). The most frequent PDGFRA-related aberration is the interstitial deletion of the CHIC2 gene with breakpoints in the FIP1L1 and PDGFRA genes. The deletion of a fragment of about 800kb is resulting in the FIP1L1-PDGFRA fusion gene, a constitutively activated tyrosine kinase transforming hematopoietic cells. In FISH assays, the detection of CHIC2 deletion at 4q12 is a surrogate for the direct detection of the FIP1L1-PDGFRA fusion gene. Translocations with other partner genes, resulting in aberrant tyrosine kinase activity, are known.
Involvement of PDGFRA can be detected by FISH using break apart strategies.

Clinical Applications

  • Myeloproliferative Neoplasm (MPN)
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Images

XL 4q12 DC

XL 4q12 DC hybridized to lymphocytes. Two normal interphases and one metaphase 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) and one green (1G) signal indicating a deletion of CHIC2.

Expected Pattern 3

Aberrant Cell (typical results):
One green (1G) and two green-orange colocalization/fusion signals (2GO) signals resulting from a translocation between the green labeled PDGFRA gene region and an unknown chromosome.

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Literature

  • Cools et al (2003) N Engl J Med 348:1201-1214
  • Pardanani et al (2003) Blood 102:3093-3096
  • Swerdlow et al (2017) WHO classification of tumors of haematopoietic and lymphoid tissues (revised 4th edition)

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!