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.
"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). "
[Show abstract][Hide abstract] ABSTRACT: Meckel diverticulum is the most common congenital defect of the gastrointestinal tract. It can be asymptomatic or mimic appendicitis and may be complicated by bleeding, diverticulitis, obstruction, and, rarely, neoplasia. We report the first case of extranodal marginal zone lymphoma occupying a Meckel diverticulum. A 44-year-old man with history of colonic diverticulitis presented to the emergency department for evaluation of acute abdominal pain. Radiography showed enteric obstruction, prompting diagnostic laparoscopy. Above the level of mid-ileum an intact Meckel diverticulum was identified. Microscopy showed extensive infiltration of sheets of small lymphocytes with abundant cytoplasm (monocytoid B-cells) prominently in submucosa and focally transmural involving serosal adipose tissue with multiple reactive germinal centers. The immunostains showed positivity for CD20, BCL-2, and CD43 (weak) and negativity for CD3, CD5, BCL-1, CD10, and BCL-6 in monocytoid B-cells. Fluorescence in situ hybridization studies revealed API2-MALT1 fusion signals consistent with t(11;18)(q21;q21), which confirmed the diagnosis of extranodal marginal zone lymphoma, also known as mucosa associated lymphoid tissue lymphoma.
[Show abstract][Hide abstract] 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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