Wlodarska I, Veyt E, De Paepe P, Vandenberghe P, Nooijen P, Theate I, Michaux L, Sagaert X, Marynen P, Hagemeijer A, De Wolf-Peeters C
Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Leukemia. 2005 Aug;19(8):1299-305. doi: 10.1038/sj.leu.2403813.
The transcription factor Forkhead box protein P1 (FOXP1) is highly expressed in a proportion of diffuse large B-cell lymphoma (DLBCL). In this report, we provide cytogenetic and fluorescence in situ hybridization (FISH) data showing that FOXP1 (3p13) is recurrently targeted by chromosome translocations. The genomic rearrangement of FOXP1 was identified by FISH in three cases with a t(3;14)(p13;q32) involving the immunoglobulin heavy chain (IGH) locus, and in one case with a variant t(2;3) affecting sequences at 2q36. These aberrations were associated with strong expression of FOXP1 protein in tumor cells, as demonstrated by immunohistochemistry (IHC). The cases with t(3p13) were diagnosed as DLBCL ( x 1), gastric MALT lymphoma ( x 1) and B-cell non-Hodgkin's lymphoma, not otherwise specified ( x 2). Further IHC and FISH studies performed on 98 cases of DLBCL and 93 cases of extranodal marginal zone lymphoma showed a high expression of FOXP1 in approximately 13 and 12% of cases, respectively. None of these cases showed, however, FOXP1 rearrangements by FISH. However, over-representation of the FOXP1 locus found in one additional case of DLBCL may represent another potential mechanism underlying an increased expression of this gene.
转录因子叉头框蛋白P1（FOXP1）在一部分弥漫性大B细胞淋巴瘤（DLBCL）中高表达。在本报告中，我们提供了细胞遗传学和荧光原位杂交（FISH）数据，表明FOXP1（3p13）经常成为染色体易位的靶点。通过FISH在3例发生涉及免疫球蛋白重链（IGH）基因座的t(3;14)(p13;q32)的病例以及1例发生影响2q36序列的变异t(2;3)的病例中鉴定出FOXP1的基因组重排。如免疫组织化学（IHC）所示，这些畸变与肿瘤细胞中FOXP1蛋白的强表达相关。发生t(3p13)的病例被诊断为DLBCL（1例）、胃黏膜相关淋巴组织淋巴瘤（1例）和未另行指定的B细胞非霍奇金淋巴瘤（2例）。对98例DLBCL和93例结外边缘区淋巴瘤进行的进一步IHC和FISH研究显示，FOXP1在约13%和12%的病例中高表达。然而，这些病例通过FISH均未显示FOXP1重排。不过，在另外1例DLBCL中发现的FOXP1基因座的过度扩增可能代表了该基因表达增加的另一种潜在机制。
Zotero 插件