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

Eva Maria Murga Penas 1 Evelyne Callet-Bauchu 2 Hongtao Ye 3 Sophie Gazzo 2 Françoise Berger 2 Georgia Schilling 1 Nadine Albert-Konetzny 1 Eik Vettorazzi 4 Gilles Salles 2 Iwona Wlodarska 5 Ming-Qing Du 2 Carsten Bokemeyer 1 Judith Dierlamm 1
1 Department of Oncology and Hematology
2 Department of Pathology and Hematology
3 Department of Pathology
4 Department of Medical Biometry and Epidemiology
5 Center for Human Genetics
Abstract : 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.
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Contributor : Agnès Ganivet <>
Submitted on : Wednesday, April 24, 2013 - 2:42:04 PM
Last modification on : Thursday, February 21, 2019 - 10:30:03 AM

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  • HAL Id : ensl-00817372, version 1
  • DOI : 10.1182

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Eva Maria Murga Penas, Evelyne Callet-Bauchu, Hongtao Ye, Sophie Gazzo, Françoise Berger, et al.. 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. Blood, American Society of Hematology, 2010, 115 (11), pp.2214-2219. ⟨10.1182⟩. ⟨ensl-00817372⟩

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