0 Ratings

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.

Link

dbGaP-study=phs000689

Keywords

  1. 1/13/23 1/13/23 - Chiara Middel
Copyright Holder

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

Uploaded on

January 13, 2023

DOI

To request one please log in.

License

Creative Commons BY 4.0

Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Itemgroup comments for :

Item comments for :


    No comments

    In order to download data models you must be logged in. Please log in or register for free.

    dbGaP phs000689 Genomic Analysis of Peripheral T-Cell Lymphomas

    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.

    pht003679
    Description

    pht003679

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

    SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Description

    CONSENT

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001
    Source repository where subjects originate
    Description

    SUBJECT_SOURCE

    Data type

    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]
    C0681850 (Study Subject)
    Subject ID used in the Source Repository
    Description

    SOURCE_SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    Case control status of the subject
    Description

    AFFECTION_STATUS

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)

    Similar models

    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.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht003679
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Disease-Specific (Cancer, PUB, MDS) (DS-CA-PUB-MDS) (1)
    SUBJECT_SOURCE
    Item
    Source repository where subjects originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C0681850 (UMLS CUI [1,3])
    SOURCE_SUBJECT_ID
    Item
    Subject ID used in the Source Repository
    string
    C2348585 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])
    Item
    Case control status of the subject
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case control status of the subject
    CL Item
    Control (1)
    C3274648 (UMLS CUI [1,1])
    CL Item
    Case (2)
    C3274647 (UMLS CUI [1,1])

    Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

    Watch Tutorial