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ID

45916

Description

Principal Investigator: MeSH: Melanoma,Neoplasm Metastasis,Phylogeny https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000941 Subpopulations of cells in a primary melanoma can disseminate and establish metastases. Still, the precise ancestral relationship between primary tumors and their metastases is not well understood. Using whole-exome sequencing (for discovery) and targeted sequencing (for validation), we analyzed mutation patterns of primary melanomas and two or more metastases in each of 8 patients to determine their phylogenetic relationships, profiling a total of 31 total tumors. The resulting data show that in 6 of 8 cases, genetically unique cell populations in the primary metastasized in parallel to distinct anatomic sites, rather than sequentially. These data also indicate that individual metastases were sometimes founded by multiple cell populations of the primary that were genetically distinct.

Lien

dbGaP study=phs000941

Mots-clés

  1. 30/01/2024 30/01/2024 - Simon Heim
Détendeur de droits

dbGaP

Téléchargé le

30 janvier 2024

DOI

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Licence

Creative Commons BY 4.0

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    dbGaP phs000941 Phylogenetic Analyses Reveal Complex Patterns of Melanoma Metastasis

    Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.

    pht004903
    Description

    pht004903

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified sample ID
    Description

    SAMPLE_ID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C1299222
    Primary tumor, metastasis, or transformed cell line
    Description

    NORMAL_PRIMARY_METASTATIC

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C0677930
    UMLS CUI [2,1]
    C0027627
    UMLS CUI [3,1]
    C0007601
    Site of tumor
    Description

    BODY SITE

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C0475445
    Melanoma
    Description

    HISTOLOGICAL TYPE

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C0025202
    Analyte type [DNA]
    Description

    ANALYTE_TYPE

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C4744818
    UMLS CUI [1,2]
    C0012854

    Similar models

    Sample ID, primary tumor, metastasis, or transformed cell line, site of tumor, histological type [melanoma], analyte type [DNA] of participants with metastatic melanoma and involved in the "Phylogenetic Analyses of Melanoma Reveal Complex Patterns of Metastatic Dissemination" project.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    Alias
    Item Group
    pht004903
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    NORMAL_PRIMARY_METASTATIC
    Item
    Primary tumor, metastasis, or transformed cell line
    string
    C0677930 (UMLS CUI [1,1])
    C0027627 (UMLS CUI [2,1])
    C0007601 (UMLS CUI [3,1])
    BODY SITE
    Item
    Site of tumor
    text
    C0475445 (UMLS CUI [1,1])
    HISTOLOGICAL TYPE
    Item
    Melanoma
    text
    C0025202 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte type [DNA]
    text
    C4744818 (UMLS CUI [1,1])
    C0012854 (UMLS CUI [1,2])

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