Biomaterial Database

The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma. 2010

Eva Maria Murga Penas, and Evelyne Callet-Bauchu, and Hongtao Ye, and Sophie Gazzo, and Françoise Berger, and Georgia Schilling, and Nadine Albert-Konetzny, and Eik Vettorazzi, and Gilles Salles, and Iwona Wlodarska, and Ming-Qing Du, and Carsten Bokemeyer, and Judith Dierlamm

Department of Oncology and Hematology, BMT with Section of Pneumology, Hubertus Wald Tumorzentrum-University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. murga@uke.unihamburg.de

The t(14;18)(q32;q21) involving the immunoglobulin heavy chain locus (IGH) and the MALT1 gene is a recurrent abnormality in mucosa-associated lymphoid tissue (MALT) lymphomas. However, the nucleotide sequence of only one t(14;18)-positive MALT lymphoma has been reported so far. We here report the molecular characterization of the IGH-MALT1 fusion products in 5 new cases of t(14;18)-positive MALT lymphomas. Similar to the IGH-associated translocations in follicular and mantle cell lymphomas, the IGH-MALT1 junctions in MALT lymphoma showed all features of a recombination signal sequence-guided V(D)J-mediated translocation at the IGH locus. Furthermore, analogous to follicular and mantle cell lymphoma, templated nucleotides (T-nucleotides) were identified at the t(14;18)/IGH-MALT1 breakpoint junctions. On chromosome 18, we identified a novel major breakpoint region in MALT1 upstream of its coding region. Moreover, the presence of duplications of MALT1 nucleotides in one case suggests an underlying staggered DNA-break process not consistent with V(D)J-mediated recombination. The molecular characteristics of the t(14;18)/IGH-MALT1 resemble those found in the t(14;18)/IGH-BCL2 in follicular lymphoma and t(11;14)/CCND1-IGH in mantle cell lymphoma, suggesting that these translocations could be generated by common pathomechanisms involving illegitimate V(D)J-mediated recombination on IGH as well as new synthesis of T-nucleotides and nonhomologous end joining (NHEJ) or alternative NHEJ repair pathways on the IGH-translocation partner.

UI	MeSH Term	Description	Entries
D007143	Immunoglobulin Heavy Chains	The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa.	Immunoglobulins, Heavy-Chain,Heavy-Chain Immunoglobulins,Ig Heavy Chains,Immunoglobulin Heavy Chain,Immunoglobulin Heavy Chain Subgroup VH-I,Immunoglobulin Heavy Chain Subgroup VH-III,Heavy Chain Immunoglobulins,Heavy Chain, Immunoglobulin,Heavy Chains, Ig,Heavy Chains, Immunoglobulin,Immunoglobulin Heavy Chain Subgroup VH I,Immunoglobulin Heavy Chain Subgroup VH III,Immunoglobulins, Heavy Chain
D008224	Lymphoma, Follicular	Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.	Brill-Symmers Disease,Follicular Lymphoma,Lymphoma, Giant Follicular,Lymphoma, Nodular,Follicular Large-Cell Lymphoma,Follicular Lymphoma, Giant,Follicular Lymphoma, Grade 1,Follicular Lymphoma, Grade 2,Follicular Lymphoma, Grade 3,Follicular Mixed-Cell Lymphoma,Giant Follicular Lymphoma,Histiocytic Lymphoma, Nodular,Large Lymphoid Lymphoma, Nodular,Large-Cell Lymphoma, Follicular,Lymphocytic Lymphoma, Nodular, Poorly Differentiated,Lymphocytic Lymphoma, Nodular, Poorly-Differentiated,Lymphoma, Follicular Large-Cell,Lymphoma, Follicular, Grade 1,Lymphoma, Follicular, Grade 2,Lymphoma, Follicular, Grade 3,Lymphoma, Follicular, Mixed Cell,Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic,Lymphoma, Follicular, Mixed Small and Large Lymphoid,Lymphoma, Follicular, Small and Large Cleaved Cell,Lymphoma, Follicular, Small and Large Cleaved-Cell,Lymphoma, Histiocytic, Nodular,Lymphoma, Large Cell, Follicular,Lymphoma, Large Lymphoid, Nodular,Lymphoma, Large-Cell, Follicular,Lymphoma, Lymphocytic, Nodular, Poorly Differentiated,Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated,Lymphoma, Mixed-Cell, Follicular,Lymphoma, Nodular, Large Follicular Center Cell,Lymphoma, Nodular, Large Follicular Center-Cell,Lymphoma, Nodular, Mixed Lymphocytic Histiocytic,Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic,Lymphoma, Nodular, Mixed Small and Large Cell,Lymphoma, Small Cleaved Cell, Follicular,Lymphoma, Small Cleaved-Cell, Follicular,Lymphoma, Small Follicular Center-Cell,Lymphoma, Small Lymphoid, Follicular,Mixed-Cell Lymphoma, Follicular,Nodular Large Follicular Center-Cell Lymphoma,Small Cleaved-Cell Lymphoma, Follicular,Small Follicular Center-Cell Lymphoma,Brill Symmers Disease,Disease, Brill-Symmers,Follicular Large Cell Lymphoma,Follicular Large-Cell Lymphomas,Follicular Lymphomas,Follicular Lymphomas, Giant,Follicular Mixed Cell Lymphoma,Follicular Mixed-Cell Lymphomas,Giant Follicular Lymphomas,Histiocytic Lymphomas, Nodular,Large Cell Lymphoma, Follicular,Large-Cell Lymphomas, Follicular,Lymphoma, Follicular Large Cell,Lymphoma, Follicular Mixed-Cell,Lymphoma, Nodular Histiocytic,Lymphoma, Small Follicular Center Cell,Lymphomas, Follicular,Lymphomas, Follicular Large-Cell,Lymphomas, Follicular Mixed-Cell,Lymphomas, Giant Follicular,Lymphomas, Nodular,Lymphomas, Nodular Histiocytic,Mixed Cell Lymphoma, Follicular,Mixed-Cell Lymphomas, Follicular,Nodular Histiocytic Lymphoma,Nodular Histiocytic Lymphomas,Nodular Large Follicular Center Cell Lymphoma,Nodular Lymphoma,Nodular Lymphomas,Small Cleaved Cell Lymphoma, Follicular,Small Follicular Center Cell Lymphoma
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009363	Neoplasm Proteins	Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.	Proteins, Neoplasm
D009711	Nucleotides	The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed)	Nucleotide
D002883	Chromosomes, Human, Pair 14	A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.	Chromosome 14
D002887	Chromosomes, Human, Pair 18	A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.	Chromosome 18