急性髓系白血病中的t(3;11)(q12;p15)/NUP98-LOC348801融合转录本
t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia.
作者信息
Gorello Paolo, Brandimarte Lucia, La Starza Roberta, Pierini Valentina, Bury Loredana, Rosati Roberto, Martelli Massimo F, Vandenberghe Peter, Wlodarska Iwona, Mecucci Cristina
机构信息
IbiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Hematology, University of Perugia, Perugia, Italy.
出版信息
Haematologica. 2008 Sep;93(9):1398-401. doi: 10.3324/haematol.12945. Epub 2008 Jul 4.
In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t(3;11)(q12;p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3. NUP98 involvement was detected by fluorescence in situ hybridization. 3'-RACE-PCR showed nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LOC348801. RT-PCR and cloning experiments detected two in-frame spliced NUP98-LOC348801 transcripts and the reciprocal LOC348801-NUP98. A highly specific double-color double-fusion FISH assay reliably detects NUP98-LOC348801.
在一例急性髓系白血病中，我们报告了t(3;11)(q12;p15)的分子细胞遗传学结果，其特征为一种新的NUP98易位，在3号染色体上与LOC348801重排。通过荧光原位杂交检测到NUP98参与其中。3'-RACE-PCR显示NUP98的核苷酸1718（外显子13）与LOC348801的核苷酸1248（外显子2）框内融合。RT-PCR和克隆实验检测到两种框内剪接的NUP98-LOC348801转录本以及反向的LOC348801-NUP98。一种高度特异性的双色双融合FISH检测方法可可靠地检测NUP98-LOC348801。
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