T(14;18)(q32;q21) involving MALT1 and IGH genes occurs in extranodal diffuse large B-cell lymphomas of the breast and testis

Department of Oncology, Waikato DHB, Hamilton, New Zealand.
Modern Pathology (Impact Factor: 6.19). 09/2012; 26(3). DOI: 10.1038/modpathol.2012.170
Source: PubMed


Primary B-cell lymphoma of the testis, breast and thyroid are rare and data concerning cytogenetic aberrations at these extranodal sites are scarce. We examined the presence of extranodal marginal zone lymphoma-associated translocations, t(11;18)(q21;q21), t(1;14)(p22;q32), t(14;18)(q32;q21), t(3;14)(p14.1;q32) and numerical aberrations of chromosomes 1, 3, 12 and 18 by fluorescence in situ hybridization in 6 extranodal marginal zone lymphomas and 24 diffuse large B-cell lymphomas with (n=9) or without (n=15) marginal zone lymphoma components, with primary localizations in the breast (n=15), testis (n=9) and thyroid (n=6). We found t(14;18)(q32;q21), with breakpoints in IGH and MALT1, in one testicular diffuse large B-cell lymphoma and in two diffuse large B-cell lymphomas of the breast. No other translocations, amplifications or deletions involving IGH, BCL-10, BCL-2, MALT1 and IAP2 were detected. Numerical aberrations occurred in 67% of the lymphomas, 67% of extranodal marginal zone lymphomas, 56% of diffuse large B-cell lymphomas with marginal zone lymphoma components and in 73% of 'de novo' diffuse large B-cell lymphomas. These included 78% of testis, 67% of thyroid and 60% of breast lymphomas, and included mainly trisomy 18 (n=16), trisomy 3 (n=8) and trisomy 1 (n=3). One testicular diffuse large B-cell lymphoma harbored both t(14;18)(q32;q21) and trisomy 3. Our results indicate that at least a few cases of diffuse large B-cell lymphoma of the testis and the breast belong to the spectrum of extranodal marginal zone lymphoma.Modern Pathology advance online publication, 28 September 2012; doi:10.1038/modpathol.2012.170.

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    • "The other common chromosomal aberrations include t(1;14)(p22;q32), t(14;18)(q32;q21), and t(3;14)(p14.1;q32) involving BCL10, MALT1, and FOXP1, respectively [17–19]. The molecular genetic testing is helpful to differentiate this type of lymphoma from atypical marginal zone hyperplasia of mucosa-associated lymphoid tissue and immunoproliferative small intestinal disease (IPSID). "
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    ABSTRACT: Studies indicate that t(14;18)(q32;q21)/IGH-MALT1 is present in extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT lymphoma). However, there are only few studies that have investigated the incidence of t(14;18)(q32;q21) in primary gastrointestinal MALT lymphomas or in diffuse large B-cell lymphomas. The overall significance of t(14;18)(q32;q21)/IGH-MALT1 in gastrointestinal MALT lymphomas is not clear. We examined 41 GI MALT lymphoma and 23 DLBCL cases with the aim of further understanding the role of t(14;18)(q32;q21)/IGH-MALT1 in these diseases. FISH assays for detecting t(14;18)(q32;q21)/IGH-MALT1 and t(11;18)(q21;q21) along with immunostain and histological evaluations were performed on selected cases. Of the 64 analyzed cases, 1 gastric MALT lymphoma and 1 colonic MALT lymphoma case were positive for t(14;18)(q32;q21)/IGH-MALT1. To our knowledge, this is the first reported primary colonic MALT lymphoma that carries t(14;18)(q32;q21)/IGH-MALT1 and one of few reported cases of gastric MALT lymphoma with this translocation. Since this translocation is only seen in few gastrointestinal MALT lymphomas, it is not useful as a diagnostic marker for routine clinical services. Although these findings suggest that t(14;18)(q32;q21)/IGH-MALT1 is a rare molecular event in gastrointestinal MALT lymphomas and DLBCLs, further studies to elucidate this genetic alteration in these diseases are indicated. This article is protected by copyright. All rights reserved.
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