Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98–C6orf80 fusion in a case of acute megakaryoblastic leukemia
Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98–C6orf80 fusion in a case of acute megakaryoblastic leukemia
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DOI：
10.1002/gcc.20233
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发表时间：
2005-11
期刊：
影响因子：
3.5
通讯作者：
S. Tosi;E. Ballabio;A. Teigler‐Schlegel;J. Boultwood;J. Bruch;J. Harbott
中科院分区：
文献类型：
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作者：
S. Tosi;E. Ballabio;A. Teigler‐Schlegel;J. Boultwood;J. Bruch;J. Harbott
6 q的染色体异常在髓系疾病中并不常见。在本文中，我们根据单个机构的细胞遗传学数据库报告了儿童骨髓白血病中这些染色体变化的发生率为2%-4%。我们应用荧光原位杂交（FISH），以准确地描述类型的6 q异常在7例患者（6例急性髓性白血病和骨髓增生异常综合征）。它们携带各种易位，涉及6 q中的不同断点，如使用全染色体6油漆的FISH所证实的。4例病例报告为t（6;11），但折点不同。其中，我们发现了一个新的易位，t（6;11）（q24.1;p15.5），在急性巨核细胞白血病患者。使用PAC克隆RP 5 - 1173 K1进行的分子细胞遗传学研究将11号染色体上的基因组断裂点定位在NUP 98基因内。6号染色体上的断裂点缩小到BAC克隆RP 11 - 721 P14和RP 11 - 39 H10之间的500 kb区域。使用NUP 98特异性正向引物和候选基因的反向引物在6 q中的500 kb间隔内进行逆转录PCR。该实验导致NUP 98和C6 orf 80之间的新融合的鉴定。进一步的研究旨在充分表征C6 orf 80，并阐明这种新的NUP 98融合在髓性白血病中的作用。© 2005 Wiley利斯公司
Chromosome abnormalities of 6q are not frequently observed in myeloid disorders. In this article, we report the incidence of these chromosome changes in childhood myeloid leukemia as 2%–4% based on the cytogenetic database of a single institution. We applied fluorescence in situ hybridization (FISH) to characterize precisely the types of 6q abnormalities in seven patients (six with acute myeloid leukemia and one with myelodysplastic syndrome). They carried various translocations involving different breakpoints in 6q, as confirmed by FISH using a whole‐chromosome‐6 paint. Four cases were reported as t(6;11), although the breakpoints varied. Among these, we identified a novel translocation, t(6;11)(q24.1;p15.5), in a patient with acute megakaryoblastic leukemia. Molecular cytogenetic studies using the PAC clone RP5‐1173K1 localized the genomic breakpoint on chromosome 11 to within the NUP98 gene. The breakpoint on chromosome 6 was narrowed down to a 500‐kb region between BAC clones RP11‐721P14 and RP11‐39H10. Reverse‐transcription PCR was performed using a forward primer specific for NUP98 and a reverse primer for the candidate gene in the 500‐kb interval in 6q. This experiment resulted in the identification of a new fusion between NUP98 and C6orf80. Further studies will aim to fully characterize C6orf80 and will elucidate the role of this new NUP98 fusion in myeloid leukemia. © 2005 Wiley‐Liss, Inc.