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Transcriptome sequencing of solitary fibrous tumors / hemangiopericytomas from a variety of anatomic sites revealed recurrent gene fusions between two genes, NAB2 and STAT6. All SFTs examined exhibited an in-frame fusion transcript encoding a fusion protein containing the EGR1 interaction domain of NAB2 with the transcriptional activation domain of STAT6. Functional testing of the fusion alleles confirmed the conversion of the wt NAB2 repressor into a transcriptional activator. A range of individual fusion junctions can be detected by next-generation sequencing acro the sample set, highlighting the suitability of this method in the diagnostic characterization of SFTs. This study indentified the pathognomonic alteration in solitary fibrous tumors and illuminates a pathway towards targeted therapeutics for this cancer.
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"],"attribution":["Funding Source - U01 CA111275 - National Institutes of Health, Bethesda, MD, USA","Principal Investigator - Arul M. Chinnaiyan, MD, PhD - University of Michigan, Ann Arbor, MI, USA"],"repository":["dbGaP"],"description_synonyms":["Transcription Activation, Ngf1, malignant Growth, Hemangiopericytomas, Allelomorphs, IPP2A2, IL-4-STAT, g0s30, Trans Activation, Materials, Transcriptome Profile, egr-1, egr1, cell type cancer, egr, Gene Expression Profile, Gene, ETR103, Solitary Fibrous, Profiles, protein, Tumor, protein-containing complex, PHAPII, Solitary Fibrous Tumor, 5730420M11Rik, Krox-1, protein polypeptide chains, method, polypeptide chain, zif-268, template-activating factor I, Genetic Induction, method used in an experiment, Fibrous Tumors, D12S1644, Krox-24, protein aggregate, neoplasm, malignant tumour, STAT6B, STAT6C, Transcriptional, study, SET, Transcription, Genetic, Activation, TAF-I, Fibrous Tumor, Profile, phosphatase 2A inhibitor I2PP2A, neoplasm (disease), ipp2a2, 2pp2a, proteins, AT225, A530045N19Rik, Signatures, TIS8, CG10574, Allelomorph, DmelCG4299, Zenk, set, IGAAD, 2PP2A, Egr-1, Zfp-6, DmelCG10574, Expression Signature, taf-ibeta, malignant neoplasm, tis8, sample, at225, znf225, Transcriptomes, dSET, dSet, Therapies, Allele, G0S30, Ngfi, KROX-24, Tumors, ngfi-a, phapii, Therapy, Krox24, malignancy, MADER, EGR-1-A, Transcriptome, krox-24, protein complex, malignant, Expression Profiles, igaad, CA., StF-IT-1, Zif268, Cistrons, INSDC_feature:misc_RNA, Gene Expression, Induction, MT, native protein, natural protein, I-2PP2A, Expression Signatures, malignant neoplasm (disease), Gene Expression Signatures, Protein, Dm I-2, I2PP2A, organ system cancer, Genetic Materials, Genetic Trans-Activation, Gene Expression Signature, Xegr-1, Expression Profile, Genetic Material, Transactivation, Transcriptome Profiles, primary cancer, HLA-DR-associated protein II, AI451907, DI-2, I-2Dm, Gene Activation, NGFI-A, INSDC_feature:gene, CG4299, inhibitor of granzyme A-activated DNase, ZNF225, Treatments, malignant tumor, sample population, I-2PP1, plan specification, dSET/TAF-Ibeta, 2610030F17Rik, TAF-IBETA, NGFIA, Therapeutic, Material, malignant neoplastic disease, Gene Expression Profiles, ZIF-268, Solitary, Cistron, Treatment, TAF-Ibeta, Signature, AA407739, i2pp2a, cancer, NGF1-A, Trans-Activation"],"additional_accession":[]},"is_claimable":false,"name":"NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing","description":"Transcriptome sequencing of solitary fibrous tumors / hemangiopericytomas from a variety of anatomic sites revealed recurrent gene fusions between two genes, NAB2 and STAT6. All SFTs examined exhibited an in-frame fusion transcript encoding a fusion protein containing the EGR1 interaction domain of NAB2 with the transcriptional activation domain of STAT6. Functional testing of the fusion alleles confirmed the conversion of the wt NAB2 repressor into a transcriptional activator. A range of individual fusion junctions can be detected by next-generation sequencing acro the sample set, highlighting the suitability of this method in the diagnostic characterization of SFTs. This study indentified the pathognomonic alteration in solitary fibrous tumors and illuminates a pathway towards targeted therapeutics for this cancer.
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