Among the genetic abnormalities reported to occur in mucosa-associated lymphoid tissue (MALT) lymphomas, the three translocations t(11;18)(q21;q21), t(1;14)(p22;q32) and t(14;18)(q32;q21) are of particular interest because they appear to be specific for, or at least closely related to this type of B-cell non-Hodgkin's lymphoma. These translocations affect the MALT1 (18q21) and BCL10 (1p22) genes. We retrieved 77 consecutive biopsies of MALT lymphomas (documented with frozen material) over a 10-year period and investigated these cases for the presence of these three translocations with fluorescence in situ hybridisation, along with the immunohistochemical analysis of the intracellular localisation of the BCL10 protein. The above-listed translocations occurred mutually exclusive and were detected in 10, 1 and 3% of the cases, respectively (the latter incidence being much lower than in the previously reported studies by one single group). These genetic rearrangements corresponded well with the aberrant subcellular localisation of the BCL10 protein as found by immunohistochemistry: t(11;18)(q21;q21) and (1;14)(p22;q32) were marked by a, respectively, moderate to strong nuclear BCL10 staining pattern while t(14;18)(q32;q21)-positive MALT lymphomas were characterised by a perinuclear BCL10 staining pattern. This study further supports the close interaction between the MALT1 and BCL10 proteins in the pathogenesis of MALT lymphomas and may indicate that BCL10 immunohistochemistry is a simple technique to identify those MALT lymphoma cases with an underlying genetic aberration. 1 It is characterised by several recurrent chromosomal aberrations including t(1;14)(p22;q32), t(11;18) (q21;q21), t(14;18)(q32;q21), t(3;14)(p13;q32), and by trisomy 3 and 18.The t(1;14)(p22;q32) results in deregulation of the BCL10 gene after its juxtaposition with the regulatory sequences of the immunoglobulin heavy chain gene cluster (IGH).2 BCL10 encodes a 32 kDa apoptosis regulatory molecule, characterised by an amino-terminal caspase recruit domain (CARD) motif and a Ser/Thr-rich carboxyl terminus of unknown function.3 Monoclonal antibodies raised against the BCL10 protein demonstrate cytoplasmic expression of BCL10 in lymphoid tissue and in breast epithelium. 4 In normal lymphoid tissue, BCL10 is expressed exclusively in the cytoplasm of germinal centre and marginal zone B cells. In MALT lymphomas, the BCL10 expression might be observed in the nucleus as well. Nuclear BCL10 expression has been linked to the presence of t(1;14)(p22;q32) or t(11;18)(q21;q21), but the mechanisms of the aberrant nuclear localisation of BCL10 in malignant B cells remain unclear.
5,6The MALT1 gene is directly involved in the MALT lymphoma-associated chromosomal translocations t(11;18)(q21;q21) and t(14;18)(q32;q21). The first translocation is the most common structural chromosomal abnormality in gastric MALT lymphoma. 7,8 It leads to the generation of a fusion protein comprising the three BIR (baculovirus inhibitor of apoptosis protein repeat) domains present in...