National Health Laboratory Services and University of the Witwatersrand, York Rd, Parktown Johannesburg 2193, South Africa.
World J Gastroenterol. 2011 Jun 28;17(24):2909-23. doi: 10.3748/wjg.v17.i24.2909.
To identify molecular markers shared across South African esophageal squamous cell carcinoma (ESCC) cell lines using cytogenetics, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism (SNP) array copy number analysis.
We used conventional cytogenetics, FISH, and multicolor FISH to characterize the chromosomal rearrangements of five ESCC cell lines established in South Africa. The whole genome copy number profile was established from 250K SNP arrays, and data was analyzed with the CNAT 4.0 and GISTIC software.
We detected common translocation breakpoints involving chromosomes 1p11-12 and 3p11.2, the latter correlated with the deletion, or interruption of the EPHA3 gene. The most significant amplifications involved the following chromosomal regions and genes: 11q13.3 (CCND1, FGF3, FGF4, FGF19, MYEOV), 8q24.21(C-MYC, FAM84B), 11q22.1-q22.3 (BIRC2, BIRC3), 5p15.2 (CTNND2), 3q11.2-q12.2 (MINA) and 18p11.32 (TYMS, YES1). The significant deletions included 1p31.2-p31.1 (CTH, GADD45α, DIRAS3), 2q22.1 (LRP1B), 3p12.1-p14.2 (FHIT), 4q22.1-q32.1 (CASP6, SMAD1), 8p23.2-q11.1 (BNIP3L) and 18q21.1-q21.2 (SMAD4, DCC). The 3p11.2 translocation breakpoint was shared across four cell lines, supporting a role for genes involved at this site, in particular, the EPHA3 gene which has previously been reported to be deleted in ESCC.
The finding that a significant number of genes that were amplified (FGF3, FGF4, FGF19, CCND1 and C-MYC) or deleted (SFRP2 gene) are involved in the Wnt and fibroblast growth factor signaling pathways, suggests that these pathways may be activated in these cell lines.
使用细胞遗传学、荧光原位杂交（FISH）和单核苷酸多态性（SNP）阵列拷贝数分析，鉴定南非食管鳞状细胞癌（ESCC）细胞系中共同存在的分子标记物。
我们使用常规细胞遗传学、FISH 和多色 FISH 来描述在南非建立的五个 ESCC 细胞系的染色体重排。全基因组拷贝数谱来自 250K SNP 阵列，使用 CNAT 4.0 和 GISTIC 软件进行数据分析。
我们检测到涉及染色体 1p11-12 和 3p11.2 的共同易位断点，后者与 EPHA3 基因的缺失或中断有关。最显著的扩增涉及以下染色体区域和基因：11q13.3（CCND1、FGF3、FGF4、FGF19、MYEOV）、8q24.21（C-MYC、FAM84B）、11q22.1-q22.3（BIRC2、BIRC3）、5p15.2（CTNND2）、3q11.2-q12.2（MINA）和 18p11.32（TYMS、YES1）。显著缺失包括 1p31.2-p31.1（CTH、GADD45α、DIRAS3）、2q22.1（LRP1B）、3p12.1-p14.2（FHIT）、4q22.1-q32.1（CASP6、SMAD1）、8p23.2-q11.1（BNIP3L）和 18q21.1-q21.2（SMAD4、DCC）。四个细胞系共有的 3p11.2 易位断点表明，该位点涉及的基因可能发挥作用，特别是 EPHA3 基因，先前报道其在 ESCC 中缺失。
大量扩增（FGF3、FGF4、FGF19、CCND1 和 C-MYC）或缺失（SFRP2 基因）的基因参与 Wnt 和成纤维细胞生长因子信号通路，提示这些通路可能在这些细胞系中被激活。
