Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia

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• 作者：Paolo Gorello^a ; ¹ ; Valeria Nofrini^a ; ¹ ; Lucia Brandimarte^a ; Valentina Pierini^a ; Barbara Crescenzi^a ; Filomena Nozza^b ; Giulia Daniele^c ; Clelia Tiziana Storlazzi^c ; Danika Di Giacomo^a ; Caterina Matteucci^a ; Roberta La Starza^a ; Cristina Mecucci^a ; ^{crimecux@unipg.it}
• 关键词：AML ; NUP98-DDX10 ; FISH ; fusion isoforms
• 刊名：Cancer Genetics
• 出版年：2013
• 出版时间：March, 2013
• 年：2013
• 卷：206
• 期：3
• 页码：92-96
• 全文大小：394 K

文摘

We set up a diagnostic double-color double-fusion fluorescence in situ hybridization (DCDF-FISH) assay to investigate a case of a de novo acute myeloid leukemia (AML)-M4 bearing an inv(11)(p15q22). DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv(11). Reverse transcription-polymerase chain reaction (RT-PCR) and cloning experiments confirmed the NUP98-DDX10 fusion and identified two splicing fusion isoforms: the known ¡°type II fusion,¡± originating from the fusion of NUP98 exon 14 to DDX10 exon 7 and a new in-frame fusion transcript between NUP98 exon 15 and DDX10 exon 7, which we termed ¡°type III fusion.¡±