Genomic analysis of marginal zone and lymphoplasmacytic lymphomas identified common and disease-specific abnormalities
Genomic analysis of marginal zone and lymphoplasmacytic lymphomas identified common and disease-specific abnormalities
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DOI：
10.1038/modpathol.2011.213
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发表时间：
2012-05-01
期刊：
影响因子：
7.5
通讯作者：
Fonseca, Rafael
中科院分区：
文献类型：
--
作者：
Braggio, Esteban;Dogan, Ahmet;Fonseca, Rafael
淋巴结、淋巴结外和脾型的浆细胞性淋巴瘤和边缘区淋巴瘤占非霍奇金淋巴瘤的10%。它们在细胞分化水平上是相似的，有时很难将它们与其他惰性非霍奇金淋巴瘤区分开来。为了更好地描述其遗传基础，我们在101例边缘区淋巴瘤（46例MALT，35例脾和20例结边缘区淋巴瘤）和13例淋巴浆细胞性淋巴瘤中进行了基于阵列的比较基因组杂交。总体而言，90%的患者表现出拷贝数异常。骨髓浆细胞性淋巴瘤表现出最复杂的核型（中位数= 7拷贝数异常），其次是MALT（4），淋巴结（3.5）和脾边缘区淋巴瘤（3）。一项比较分析暴露了一组拷贝数异常，这些拷贝数异常由几个或所有具有很少疾病特异性异常的实体共享。在所有实体中鉴定出3、12和18号染色体的获得和6 q23-q24（TNFAIP 3）的丢失。13q14.3（MIRN 15 A-MIRN 16 -1）和17p13.3-p12（TP 53）在淋巴浆细胞性和脾边缘区淋巴瘤中发现丢失; 11 q21-q22（ATM）在淋巴结、脾边缘区和淋巴浆细胞性淋巴瘤中发现丢失;在70%的MALT和淋巴浆细胞性淋巴瘤以及30%的脾和淋巴结边缘区淋巴瘤中观察到影响核因子κ B通路的抑制，表明该通路在这些亚型的发病/进展中具有不同的作用。阐明这些淋巴瘤的发病机制的遗传变异可能会指导设计特异性治疗方法。Modern Pathology（2012）25，651-660; doi：10.1038/modpathol.2011.213; 2012年2月3日在线发表
Lymphoplasmacytic lymphomas and marginal zone lymphomas of nodal, extra-nodal and splenic types account for 10% of non-Hodgkin lymphomas. They are similar at the cell differentiation level, sometimes making difficult to distinguish them from other indolent non-Hodgkin lymphomas. To better characterize their genetic basis, we performed array-based comparative genomic hybridization in 101 marginal zone lymphomas (46 MALT, 35 splenic and 20 nodal marginal zone lymphomas) and 13 lymphoplasmacytic lymphomas. Overall, 90% exhibited copy-number abnormalities. Lymphoplasmacytic lymphomas demonstrated the most complex karyotype (median = 7 copy-number abnormalities), followed by MALT (4), nodal (3.5) and splenic marginal zone lymphomas (3). A comparative analysis exposed a group of copy-number abnormalities shared by several or all the entities with few disease-specific abnormalities. Gain of chromosomes 3, 12 and 18 and loss of 6q23-q24 (TNFAIP3) were identified in all entities. Losses of 13q14.3 (MIRN15A-MIRN16-1) and 17p13.3-p12 (TP53) were found in lymphoplasmacytic and splenic marginal zone lymphomas; loss of 11q21-q22 (ATM) was found in nodal, splenic marginal zone and lymphoplasmacytic lymphomas and loss of 7q32.1-q33 was found in MALT, splenic and lymphoplasmacytic lymphomas. Abnormalities affecting the nuclear factor kappa B pathway were observed in 70% of MALT and lymphoplasmacytic lymphomas and 30% of splenic and nodal marginal zone lymphomas, suggesting distinct roles of this pathway in the pathogenesis/progression of these subtypes. Elucidation of the genetic alterations contributing to the pathogenesis of these lymphomas may guide to design-specific therapeutic approaches. Modern Pathology (2012) 25, 651-660; doi:10.1038/modpathol.2011.213; published online 3 February 2012