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      Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing.

      Nature genetics

      Adult, Base Sequence, Cell Proliferation, Cells, Cultured, Chromatin Immunoprecipitation, DNA Mutational Analysis, Exome, genetics, Female, Fluorescent Antibody Technique, Gene Expression Regulation, Neoplastic, Gene Fusion, High-Throughput Nucleotide Sequencing, Humans, Immunoblotting, Luciferases, Models, Genetic, Molecular Sequence Data, Real-Time Polymerase Chain Reaction, Regulatory Elements, Transcriptional, Repressor Proteins, Reverse Transcriptase Polymerase Chain Reaction, STAT6 Transcription Factor, Solitary Fibrous Tumors, Transcriptome

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          A 44-year old woman with recurrent solitary fibrous tumor (SFT)/hemangiopericytoma was enrolled in a clinical sequencing program including whole-exome and transcriptome sequencing. A gene fusion of the transcriptional repressor NAB2 with the transcriptional activator STAT6 was detected. Transcriptome sequencing of 27 additional SFTs identified the presence of a NAB2-STAT6 gene fusion in all tumors. Using RT-PCR and sequencing, we detected this fusion in all 51 SFTs, indicating high levels of recurrence. Expression of NAB2-STAT6 fusion proteins was confirmed in SFT, and the predicted fusion products harbor the early growth response (EGR)-binding domain of NAB2 fused to the activation domain of STAT6. Overexpression of the NAB2-STAT6 gene fusion induced proliferation in cultured cells and activated the expression of EGR-responsive genes. These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.

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