ID
45369
Descripción
Principal Investigator: Arul M. Chinnaiyan, MD, PhD, University of Michigan, Ann Arbor, MI, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000567 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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Versiones (1)
- 4/11/22 4/11/22 - Chiara Middel
Titular de derechos de autor
Arul M. Chinnaiyan, MD, PhD, University of Michigan, Ann Arbor, MI, USA
Subido en
4 de noviembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000567 NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable associated with participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Subject ID, gender, age, anatomic site of tumor, tumor status [malignant or benign] of participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, and alias name of samples obtained from healthy participants involved in the "Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable associated with participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Subject ID, gender, age, anatomic site of tumor, tumor status [malignant or benign] of participants with solitary fibrous tumor / hemangiopericytoma and involved in the "Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing" project.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, and alias name of samples obtained from healthy participants involved in the "Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin" project.
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