Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome
Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome
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DOI：
10.1046/j.1365-2141.2003.04502.x
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发表时间：
2003-09-01
影响因子：
6.5
通讯作者：
Horsman, DE
中科院分区：
文献类型：
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作者：
Lestou, VS;Gascoyne, RD;Horsman, DE
为了充分鉴定继发性染色体改变，例如G显带未能解决的重复、添加和标记染色体，通过多色核型分析技术[多色荧光原位杂交（MFISH）/1号染色体多色显带（MBAND1）]对60例t（14;18）阳性滤泡性淋巴瘤（FL）进行了分析。总共描述了 165 个额外的染色体结构畸变。涉及 X、1q、2、3q27-q29、5、6p11-p21、7、8、11、12、14q32、17q、18 和 21 的染色体增益频率增加，以及 1p36、3q28-q29、6q、10q22-q24 和MFISH/MBAND1 分析揭示了 17p11-p13。除 t(14;18) 之外的平衡易位并不常见，而不平衡易位则很多。 1p36 缺失以及 1p33-p35、1p12-p21 和 1q21-q41 重复通常与 1 号染色体改变有关，在 53% 的病例中可见。单个染色体条带的增加与基因表达增加之间存在很强的相关性，包括 1q22/MNDA、6p21/CDKN1A、12q13q14/SAS、17q23/ZNF161、18q21/BCL2 和 Xq13/IL2RG。不利的总生存期与 del(1)(p36) 和 dup(18q) 相关。这些数据支持这样的观点，即易位事件主要负责 FL 疾病的发生，而反映基因表达模式的不平衡染色体获得和丢失则表征了克隆进化和疾病进展，从而为 FL 的生物学提供了进一步的见解。
In order fully to identify secondary chromosomal alterations, such as duplications, additions and marker chromosomes that remained unresolved by G banding, 60 cases of t(14;18)-positive follicular lymphoma (FL) were analysed by multicolour karyotyping techniques [multicolour fluorescence in situ hybridization (MFISH)/multicolour banding for chromosome 1 (MBAND1)]. A total of 165 additional structural chromosomal aberrations were delineated. An increased frequency of chromosomal gains involving X, 1q, 2, 3q27-q29, 5, 6p11-p21, 7, 8, 11, 12, 14q32, 17q, 18 and 21 and deletions of 1p36, 3q28-q29, 6q, 10q22-q24 and 17p11-p13 was revealed by the MFISH/MBAND1 analysis. Balanced translocations other than t(14;18) were uncommon, whereas unbalanced translocations were numerous. Deletion of 1p36 and duplication of 1p33-p35, 1p12-p21 and 1q21-q41 were regularly involved in chromosome 1 alterations, seen in 53% of the cases. A strong correlation was demonstrated between gains of individual chromosomal bands and increased gene expression, including 1q22/MNDA, 6p21/CDKN1A, 12q13q14/SAS, 17q23/ZNF161, 18q21/BCL2 and Xq13/IL2RG. Unfavourable overall survival was associated with del(1)(p36) and dup(18q). These data support the notion that translocation events are primarily responsible for FL disease initiation, whereas the unbalanced chromosomal gains and losses that mirror the gene expression patterns characterize clonal evolution and disease progression, and thus provide further insights into the biology of FL.