t(11;14)(p13;q32) IGH/CD44

2018-08-01   Jean-Loup Huret 

1.jean-loup.huret@atlasgeneticsoncology.org

Abstract

Review on t(11;14)(p13;q32), with data on clinics, and the genes involved.

Clinics and Pathology

Disease

Mature B-cell non-Hodgkin Lymphomas (NHL).

Note

Nine cases available so far, from a unique study (Hu et al., 2010).

Phenotype stem cell origin

In a study of 114 cases of mature B-cell NHLs, the t(11;14)(p13;q32) IGH/CD44 was found in:
  • 4 cases (8%) of gastric lymphoma; mucosa-associated lymphoid lymphoma (MALT): 1 (25%); composite DLBCL with residual MALT lymphoma: 2 (33%); diffuse large B-cell lymphoma (DLBCL) germinal center B-cell-like (GCB)-type: 1 (4%);
  • 2 cases (25%) of non-gastric extranodal lymphoma: DLBCL GCB-type: 2 (67%);
  • 2 cases (7%) of follicular lymphoma (FL), one of which also harboring a t(14;18)(q32;q21) IGH/BCL2;
  • 1 cases (4%) of nodal DLBCL GCB-type.

    • Genes Involved and Proteins

    Gene name
    CD44
    Location
    11p13
    Dna rna description
    20 exons spanning 60 kb. The first five and the last five exons are constant; while the ten exons located between, are subject to alternative splicing, resulting in the generation of CD44 variants.
    Protein description
    CD44 is composed of extracellular, transmembrane, and cytoplasmic domains. CD44 is a membrane receptor which plays a role in cell adhesion (cell-cell and cell-extracellular matrix interactions), cell traffic, presentation of chemokines and growth factors, signals transmission. High levels of expression of CD44 have been observed in a high number of cancer types, including non-Hodgkin Lymphomas (Sen and Yip 2010).
    Gene name
    IGH
    Location
    14q32.33

    Result of the Chromosomal Anomaly

    Description

    5 IGH-3 CD44. The translocation juxtaposes the IGHSμ enhancer to the 5 regulatory region of CD44 in a tail-to-head orientation. Various breakpoints: breakpoints were spread within small regions of IGHSμ and small regions between CD44 exon 1 and 2.CD44 starting from the ATG at nucleotide 254 with a strong Kozak sequence.

    Oncogenesis

    The ectopic expression of CD44 resulted in increase in cell growth and clonogenicity. To be noted is that the t(11;14)(p13;q32) was detected in 4 patients with advanced stages of disease.

    Bibliography

    Pubmed IDLast YearTitleAuthors
    200934042010CD44 activation in mature B-cell malignancies by a novel recurrent IGH translocation.Hu XT et al

    Summary

    Fusion gene

    IGH/CD44

    Citation

    Jean-Loup Huret

    t(11;14)(p13;q32) IGH/CD44

    Atlas Genet Cytogenet Oncol Haematol. 2018-08-01

    Online version: http://atlasgeneticsoncology.org/haematological/1609/t(11;14)(p13;q32)-igh-cd44