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ID

45562

Description

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.

Lien

dbGaP-study=phs000689

Mots-clés

  1. 13/01/2023 13/01/2023 - Chiara Middel
Détendeur de droits

Adolfo Ferrando, Institute for Cancer Genetics, Columbia University, New York, NY, USA

Téléchargé le

13 janvier 2023

DOI

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Licence

Creative Commons BY 4.0

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    dbGaP phs000689 Genomic Analysis of Peripheral T-Cell Lymphomas

    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.

    pht003680
    Description

    pht003680

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Description

    SUBJECT_ID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Sample ID
    Description

    SAMPLE_ID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Source repository where samples originate
    Description

    SAMPLE_SOURCE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,2]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,3]
    C2347026 (Biospecimen)
    Sample ID used in the Source Repository
    Description

    SOURCE_SAMPLE_ID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    Sample Use
    Description

    SAMPLE_USE

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C1524063 (Use of)
    SNOMED
    260676000

    Similar models

    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.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    Alias
    Item Group
    pht003680
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    SAMPLE_SOURCE
    Item
    Source repository where samples originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C2347026 (UMLS CUI [1,3])
    SOURCE_SAMPLE_ID
    Item
    Sample ID used in the Source Repository
    string
    C1299222 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])
    SAMPLE_USE
    Item
    Sample Use
    text
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])

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