ID
45562
Descripción
Principal Investigator: Adolfo Ferrando, Institute for Cancer Genetics, Columbia University, New York, NY, USA MeSH: Lymphoma, T-Cell, Peripheral,Lymphoma, Non-Hodgkin https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000689 Peripheral T-cell lymphomas (PTCLs) are a heterogeneous and poorly understood group of non Hodgkin lymphomas. We aim to identify new genetic alterations in PTCL transformation by using a combination of whole exome sequencing of tumor-normal DNA pairs, RNAseq analysis and targeted deep sequencing of candidate genes. Our data identified highly recurrent mutations in epigenetic factors such as TET2, DNMT3A and IDH2 as well as a new highly prevalent mutation in RHOA, the G17V allele that is present in almost 70% of angioimmunoblastic T-cell lymphomas (AITL) and almost 20% of not otherwise specified PTCL (PTCL NOS) samples. In addition, we describe new and recurrent genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance processes as key players in the pathogenesis of PTCL.
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Versiones (1)
- 13/1/23 13/1/23 - Chiara Middel
Titular de derechos de autor
Adolfo Ferrando, Institute for Cancer Genetics, Columbia University, New York, NY, USA
Subido en
13 de enero de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000689 Genomic Analysis of Peripheral T-Cell Lymphomas
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary or metastatic tumor, primary tumor location, sequencing center of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary or metastatic tumor, primary tumor location, sequencing center of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.
C0680251 (UMLS CUI [1,2])
C0011900 (UMLS CUI [1,2])
C0079774 (UMLS CUI [1,3])
C4331441 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
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