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首页> 外文期刊>Cancer genetics and cytogenetics >NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes.
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NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes.

机译：NUP98-NSD3融合基因与辐射相关性骨髓增生异常综合征的t（8; 11）（p11; p15）和NSD家族基因的表达模式有关。

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摘要

Chromosomal 11p15 abnormality of therapy-related myelodysplastic syndrome (t-MDS)-acute myeloid leukemia (AML) is rare. NUP98-NSD3 fusion transcripts have been detected previously in one patient with AML and one patient with t-MDS having t(8;11)(p11;p15). Here we present the case of a 60-year-old man with radiation-associated MDS (r-MDS) carrying chromosome abnormalities, including t(8;11)(p11;p15) and del(1)(p22p32). Fluorescence in situ hybridization analysis demonstrated that the NUP98 gene at 11p15 was split by the translocation. Southern blot analysis of bone marrow cells showed both rearrangements of NUP98 and NSD3 genes. Reverse transcriptase-polymerase chain reaction (RT-PCR) followed by sequence analysis revealed the presence of both NUP98-NSD3 and NSD3-NUP98 fusion transcripts. Expression analysis by RT-PCR showed that NSD3 as well as NSD1 and NSD2 was ubiquitously expressed in leukemic cell lines and Epstein-Barr virus transformed B lymphocyte cell lines derived from the normal adult lymphocytes examined. Two isoforms of NSD3, NSD3S and NSD3L (but not NSD3L2), were expressed in leukemic cell lines and were fused to NUP98 in our patient, suggesting that qualitative change of these two isoforms of NSD3 by fusion with NUP98 might be related to leukemogenesis, although the function of each isoform of the NSD3 gene remains unclear.
机译：与治疗相关的骨髓增生异常综合症（t-MDS）-急性髓性白血病（AML）的染色体11p15异常罕见。先前已在一名AML患者和一名t-MDS患者中检测到NUP98-NSD3融合转录本，其中t-MDS具有t（8; 11）（p11; p15）。在这里，我们介绍了一个60岁男子的案例，该男子患有与辐射相关的MDS（r-MDS），携带染色体异常，包括t（8; 11）（p11; p15）和del（1）（p22p32）。荧光原位杂交分析表明Np98基因在11p15被易位分裂。骨髓细胞的Southern印迹分析显示NUP98和NSD3基因均重排。逆转录聚合酶链反应（RT-PCR），然后进行序列分析，揭示了NUP98-NSD3和NSD3-NUP98融合转录本的存在。通过RT-PCR的表达分析表明，NSD3以及NSD1和NSD2在白血病细胞系和爱泼斯坦-巴尔病毒转化的源自正常成年淋巴细胞的B淋巴细胞系中普遍表达。 NSD3的两个亚型，NSD3S和NSD3L（但不是NSD3L2）在白血病细胞系中表达并与NUP98融合，这表明通过与NUP98融合，这两个NSD3的亚型的质变可能与白血病的发生有关NSD3基因的每个同工型的功能仍不清楚。

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