Lennon Patrick A, Abruzzo Lynne V, Medeiros L Jeffrey, Cromwell Candy, Zhang Xiang, Yin Cameron C, Kornblau Steven M, Konopieva Marina, Lin Pei
School of Health Sciences, The University of Texas-M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, Texas 77030, USA.
Cancer Genet Cytogenet. 2007 Aug;177(1):37-42. doi: 10.1016/j.cancergencyto.2007.05.007.
EVI is a proto-oncogene that is activated in acute myeloid leukemia with chromosomal rearrangements that map to chromosome 3q26. We previously reported the clinicopathologic features of five cases of acute myeloid leukemia carrying t(3;8)(q26;q24). Using fluorescence in situ hybridization analysis, we demonstrate in the current study that the breakpoint on chromosome 3 is at EVI1/MDS1, and the breakpoint on chromosome 8 is just distal to the PVT1 oncogene homolog, a C-MYC activator in mice. The breakpoint on chromosome 8 was detected between the components of the LSI MYC dual-color break-apart rearrangement probe. Reverse-transcriptase polymerase chain reaction assay showed expression of EVI1 in all four cases analyzed, and DNA sequence analysis confirmed the findings. Reverse transcriptase polymerase chain reaction assay also demonstrated the expression of PVT1 and C-MYC in all four cases assessed. Western blot analysis detected EVI1 in one case analyzed. We conclude that the t(3;8)(q26;q24) results in deregulated EVI1 expression, similar to other balanced or unbalanced chromosomal translocations involving chromosome 3q26.
EVI是一种原癌基因，在急性髓系白血病中被激活，伴有定位于3q26染色体的染色体重排。我们之前报道了5例携带t(3;8)(q26;q24)的急性髓系白血病的临床病理特征。在本研究中，我们使用荧光原位杂交分析证明，3号染色体上的断点位于EVI1/MDS1，8号染色体上的断点恰好在PVT1癌基因同源物（小鼠中的一种C-MYC激活剂）的远端。8号染色体上的断点在LSI MYC双色断裂分离重排探针的组分之间被检测到。逆转录聚合酶链反应分析显示，在所有分析的4例病例中均有EVI1表达，DNA序列分析证实了这些发现。逆转录聚合酶链反应分析还证明，在所有评估的4例病例中均有PVT1和C-MYC表达。蛋白质免疫印迹分析在1例分析病例中检测到了EVI1。我们得出结论，t(3;8)(q26;q24)导致EVI1表达失调，这与其他涉及3q26染色体的平衡或不平衡染色体重排相似。
