Splenic marginal zone lymphomas presenting with splenomegaly and typical immunophenotype are characterized by allelic loss in 7q31-32
Splenic marginal zone lymphomas presenting with splenomegaly and typical immunophenotype are characterized by allelic loss in 7q31-32
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DOI：
10.1097/01.mp.0000095895.19756.77
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发表时间：
2003-12-01
期刊：
影响因子：
7.5
通讯作者：
Poppema, S
中科院分区：
文献类型：
--
作者：
Boonstra, R;Bosga-Bouwer, A;Poppema, S
脾边缘带淋巴瘤。(SMZL)是一种罕见的非霍奇金淋巴瘤，最近被认为是一个实体。这项研究的第一个目标是通过细胞遗传学分析和比较基因组杂交(CGH)来确定该实体潜在的染色体异常。第二个目标是评估主要累及脾和典型免疫表型(IgM+；IGD(Dim)；以及CD5-、CD10-和CD23-)的SMZL中7q31-32等位基因失衡的频率。我们应用CGH和细胞遗传学方法对13例原发脾受累的SMZL进行了研究。经CGH检测，13例患者I、I期DNA拷贝数发生改变。总体而言，染色体增加比染色体丢失更频繁。X、3、18号染色体获得最多，7号和6号染色体丢失最多，CGH和细胞遗传学分析显示7q31号染色体缺失4例。定位于7q31的3个微卫星标记进行杂合性缺失(LOH)分析，发现9例LOH。值得注意的是，在4例缺乏7q31缺失的病例中，有2例由于部分CD23阳性而具有非典型免疫表型。另外2例不能提供详细信息。提示SMZL以脾为主要表现，具有典型的IgM+、IgDdim、CD5-、CD10-、CD23-免疫表型。染色体7q31-32存在缺失。
Splenic marginal zone lymphoma. (SMZL) is a rare non-Hodgkin's lymphoma that recently has been recognized as an entity. The first goal of this study was to identify potential chromosomal aberrations in this entity by cytogenetic analysis and comparative genomic hybridization (CGH). The second goal was to assess the frequency of 7q31-32 allelic imbalances in SMZL with primary involvement of the spleen and the typical immunophenotype (IgM+; IgD(dim); and CD5-, CD10-, and CD23-). We applied CGH and cytogenetics to 13 cases of SMZL with primary splenic involvement. By CGH, we found DNA copy number changes in I I of 13 cases. Overall chromosomal gains were more frequent than chromosomal losses. Gains were most frequently detected for chromosome X, chromosome 3, and chromosome 18. Losses commonly involved chromosome 7 and chromosome 6. CGH and cytogenetic analysis showed a deletion in chromosome 7q31 in 4 cases. Loss of heterozygosity (LOH) analysis using three microsatellite markers located at 7q31 revealed LOH in 9 cases. Remarkably, 2 of the 4 cases that lacked a 7q31 deletion had an atypical immunophenotype because they were partially CD23 positive. The other 2 cases were not informative. The findings indicate that SMZL with primary splenic presentation and the typical IgM+, IgDdim, CD5-, CD10-, CD23- immunophenotype is characterized. by the presence of deletions in chromosome 7q31-32.