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.

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)

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

• 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

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.