Chromosomal alterations in small cell lung cancer revealed by multicolour fluorescence in situ hybridization
Chromosomal alterations in small cell lung cancer revealed by multicolour fluorescence in situ hybridization
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DOI：
10.1002/ijc.10704
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发表时间：
2002-11-20
影响因子：
6.4
通讯作者：
Cawkwell, L
中科院分区：
文献类型：
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作者：
Ashman, JNE;Brigham, J;Cawkwell, L
小细胞肺癌(SCLC)是导致癌症相关发病率和死亡率的主要原因。核型研究显示，大多数小细胞肺癌存在大量的染色体异常，但经典的G显带分析不能完全描述复杂的标记染色体。分子细胞遗传学的最新发展现在使人们能够准确地识别复杂重排的染色体成分。我们应用多色荧光原位杂交(M-FISH)技术结合比较基因组杂交(CGH)技术，对5个小细胞肺癌细胞系和1例原发肿瘤标本进行了染色体异常分析。CGH分析表明，标本之间有许多相似之处，在染色体3p、Sq、10、16q、17p上DNA拷贝数频繁减少，在3q、1p、1q和14q上频繁增加。相比之下，M-FISH分析显示了大量的结构异常，每个样本都显示了一种单独的染色体易位模式。发现了40种不同的易位，其中绝大多数(39例)是不平衡的。5号染色体是最常见的重排染色体(9个易位)，其次是2号、10号和16号染色体(各6个易位)。有必要对这些频繁涉及的染色体进行进一步研究，以确定这些易位是否涉及一致的断裂点，从而导致对肿瘤进展至关重要的特定基因的失调，其次是确定受影响的基因。(C)2002年Wiley-Liss，Inc.
Small cell lung cancer (SCLC) is a major cause of cancer related morbidity and mortality. Karyotypic studies have revealed numerous chromosomal aberrations in most SCLC however, classical G-banding analysis is unable to fully characterise complex marker chromosomes. Recent developments in molecular cytogenetics now allow accurate identification of the chromosomal components of complicated rearrangements. We have applied the technique of multicolour fluorescence in situ hybridization (M-FISH) in combination with comparative genomic hybridization (CGH) to the analysis of 5 SCLC cell lines and I primary tumour specimen to characterise the chromosomal abnormalities. CGH analysis identified many similarities between specimens, with frequent DNA copy number decreases on chromosomes 3p, Sq, 10, 16q, 17p and frequent gains on 3q, 1p, 1q and 14q. In contrast, M-FISH analysis revealed a large number of structural abnormalities, with each specimen demonstrating an individual pattern of chromosomal translocations. Forty different translocations were identified with the vast majority (39) being unbalanced. Chromosome 5 was the most frequently rearranged chromosome (9 translocations) followed by chromosomes 2, 10 and 16 (6 translocations each). Further investigation of these frequently involved chromosomes is warranted to establish whether consistent break points are involved in these translocations, causing dysregulation of specific genes that are crucial for tumour progression and secondly to identify the affected genes. (C) 2002 Wiley-Liss, Inc.