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XL t(11;14) CCND1/IGH DF

Translocation/Dual Fusion Probe

Order Number
D-5140-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
1114
Regulatory Status
IVDD

IVDR Certification

This probe is IVDR-certified in compliance with the Regulation (EU) 2017/746 on in vitro diagnostic medical devices (IVDR).

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

Please use the switch to change to the IVDR product.

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Product Description

XL t(11;14) CCND1/IGH DF

XL t(11;14) CCND1/IGH DF is designed as a dual fusion probe. The orange labeled probe hybridizes to region 11q13 including CCND1, the green labeled probe flanks the IGH breakpoint region at 14q32.

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

Mantle cell lymphoma (MCL) is a rare subtype of B-cell non-Hodgkin lymphoma (NHL) with an aggressive clinical course. MCLs represent 6-8% of all NHLs. However, 95% of all MCLs are positive for the translocation t(11;14)(q13;q32). To a lower extent, t(11;14)(q13;q32) has also been detected in approx. 20% of B-cell prolymphocytic leukemias, 3-5% of plasma cell myelomas/ multiple myelomas (MM), and in rare cases (<1%) of B-cell chronic lymphocytic leukemia (CLL). The breakpoints within the IGH locus are different in MM and MCL genomes containing translocation t(11;14). The translocation results in juxtaposition of the immunoglobulin heavy-chain (IgH) locus with the cyclin D1 (CCND1) gene locus, which is not transcribed in normal B-cells. As a result, cis IgH enhancer elements take over the transcriptional control of CCND1 leading to deregulated CCND1 expression (e.g. overexpression in MCL). CCND1 coordinates growth signals with cell cycle progression playing a key role in the regulation of the G1 to S phase transition. Additionally, it was shown that some oncogenic effects of t(11;14)(q13;q32) are not directly attributable to the deregulated CCND1 expression, but rather to epigenetic downstream mechanisms such as CCND1 locus methylation and histone acetylation.
Since MCL is an aggressive B-cell neoplasm with a median survival of 3–5 years and has a poor response to traditional chemotherapeutic approaches, distinction of MCL from other lymphoproliferative disorders by differential diagnosis is of great importance.
In multiple myeloma (MM), t(11;14) is the most common translocation, detectable by FISH in about 15-20% of all MM patients. Conventional cytogenetics has a much lower sensitivity, detecting t(11;14) in about 5% of MM patients.

Clinical Applications

  • Chronic Lymphocytic Leukemia (CLL)
  • Multiple Myeloma and Plasma Cell Neoplasms (MM)
  • Non-Hodgkin Lymphomas (NHL)
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Images

XL t(11;14) CCND1/IGH DF

XL t(11;14) CCND1/IGH DF was hybridized to lymphocytes. Metaphase and interphase are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two greenorange colocalization/fusion signals (2GO) resulting from a reciprocal translocation between the respective loci.

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Literature

  • Fonesca et al (2002) Blood 99:3735-3741
  • Bentz et al (2004) Canc Cytopath 102:124-131
  • Hasanali et al (2012) Best Pract Res Clin Haematol 25:143-52

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News

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About 100 guests from 36 countries met on the XVIII. MetaSystems Distributor Meeting (DM) in November to exchange experiences and to get to know new trends and developments at MetaSystems.

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Second MetaSystems User Day in Altlussheim, Germany

Neon, the outstanding MetaSystems case and image management system, offers many tools and helpful gadgets to streamline routine workflows, for example in cytogenetics labs. The second MetaSystems User Day, addressed to MetaSystems clients from Germany, Austria, and Switzerland, provided in different workshops knowledge helping to unleash the full power of the system.

Second MetaSystems User Day in Altlussheim, Germany