Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)
Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)
复制标题
DOI：
10.1002/gcc.10172
复制
发表时间：
2003-04-01
影响因子：
3.7
通讯作者：
Imashuku, S
中科院分区：
文献类型：
--
作者：
Imamura, T;Kakazu, N;Imashuku, S
在这项研究中，我们检查了一个治疗相关性骨髓增生异常综合征（tMDS）的儿科病例。急性髓母细胞白血病（AML，根据法国-美国-英国[FAB]分类的M2亚型）治疗17个月后出现症状，涉及t(8;21)（q22;q22）染色体异常。诊断tMDS后，谱核型分析在t(2;8)（p23;p11.2）时发现新的染色体易位。此外，荧光原位杂交分析显示，位于8号染色体8p11区的单核细胞白血病锌指（MOZ）基因重排。然而，没有发现2p23上的伴侣基因。据我们所知，这是首次报道与MOZ基因重排相关的tMDS。moz连接的融合蛋白，如MOZ-CBP （CREB结合蛋白）、MOZ-TIF2（转录中介因子2）和MOZ-p300（腺病毒ela相关蛋白）分别与t(8;16)（p11;p13）、inv(8)（p11q13）和t(8;22)（p11;q13）的AML染色体异常有关，并且被认为通过组蛋白乙酰化的异常调节导致白血病的发生。通过类似的机制，我们认为MOZ在2p23位点与一个未知的伴侣基因融合，可能导致组蛋白乙酰化的改变，从而导致该患者发生tMDS。(C) 2003 Wiley-Liss, Inc。
In this study, we examined a pediatric case of therapy-related myelodysplastic syndrome (tMDS). The symptoms developed 17 months after treatment for acute myeloblastic leukemia (AML, M2 subtype according to the French-American-British [FAB] classification) involving a chromosome abnormality at t(8;21)(q22;q22). Upon diagnosis of tMDS, spectral karyotyping analysis detected a new chromosomal translocation at t(2;8)(p23;p11.2). In addition, fluorescence in situ hybridization analysis suggested a rearrangement in the monocytic leukemia zinc finger (MOZ) gene, located in the 8p11 region of chromosome 8. However, no partner gene on 2p23 could be identified. To our knowledge, this is the first report of tMDS associated with a rearrangement of the MOZ gene. MOZ-linked fusion proteins such as MOZ-CBP (CREB binding protein), MOZ-TIF2 (transcriptional intermediary factor 2), and MOZ-p300 (adenoviral ElA-associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. Through a similar mechanism, we believe that MOZ, fused to an unidentified partner gene at 2p23, may have caused an alteration in histone acetylation, resulting in the development of tMDS in this patient. (C) 2003 Wiley-Liss, Inc.