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.

译文

睾丸,乳腺和甲状腺的原发性b细胞淋巴瘤很少见,有关这些结外部位的细胞遗传学畸变的数据很少。我们检查了结外边缘区淋巴瘤相关易位的存在,t(11;18)(q21;q21),t(1;14)(p22;q32),t(14;18)(q32;q21),t(3;14)(p14.1;q32) 和通过荧光原位杂交在6个结外边缘区淋巴瘤和24个弥漫性大b细胞淋巴瘤中有 (n = 9) 或没有 (n = 15) 边缘区淋巴瘤成分的染色体1、3、12和18的数字畸变,原发性定位在乳房 (n = 15),睾丸 (n = 9) 和甲状腺 (n = 6)。我们在一个睾丸弥漫性大b细胞淋巴瘤和两个弥漫性大b细胞淋巴瘤中发现t(14;18)(q32;q21),在IGH和MALT1中具有断点。未检测到涉及IGH,BCL-10,BCL-2,MALT1和IAP2的其他易位,扩增或缺失。数值畸变发生在67% 淋巴瘤,67% 结外边缘区淋巴瘤,56% 具有边缘区淋巴瘤成分的弥漫性大b细胞淋巴瘤以及73% “从头” 弥漫性大b细胞淋巴瘤中。这些包括睾丸78%,甲状腺67% 和乳腺淋巴瘤60%,主要包括18三体综合征 (n = 16),3三体综合征 (n = 8) 和1三体综合征 (n = 3)。一种睾丸弥漫性大b细胞淋巴瘤同时患有t(14;18)(q32;q21) 和三体综合征3。我们的结果表明,至少有几例睾丸和乳房的弥漫性大b细胞淋巴瘤属于结外边缘区淋巴瘤的范围。

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