1. Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia
- Author
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Barbara Crescenzi, Danika Di Giacomo, Roberta La Starza, Valeria Nofrini, Clelia Tiziana Storlazzi, Paolo Gorello, Filomena Nozza, Caterina Matteucci, Lucia Brandimarte, Giulia Daniele, Cristina Mecucci, and Valentina Pierini
- Subjects
Adult ,Male ,Gene isoform ,Cancer Research ,Oncogene Proteins, Fusion ,Transcription, Genetic ,Oncogene Proteins ,Karyotype ,Molecular Sequence Data ,Biology ,DEAD-box RNA Helicases ,Exon ,Genetics ,medicine ,Humans ,Protein Isoforms ,Amino Acid Sequence ,Molecular Biology ,In Situ Hybridization, Fluorescence ,Base Sequence ,medicine.diagnostic_test ,Reverse Transcriptase Polymerase Chain Reaction ,Chromosomes, Human, Pair 11 ,Myeloid leukemia ,Exons ,medicine.disease ,Molecular biology ,Chromosome Banding ,Nuclear Pore Complex Proteins ,Leukemia ,Fusion transcript ,Leukemia, Myeloid ,Acute Disease ,Chromosome Inversion ,RNA splicing ,Fluorescence in situ hybridization - Abstract
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."
- Published
- 2013
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