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ID

46153

Description

The implementation of targeted therapies for acute myeloid leukemia has been challenged by complex mutational patterns within and across patients as well as a dearth of pharmacologic agents for most mutational events. Here, we report initial findings from the Beat AML program on a cohort of 672 tumor specimens collected from 562 patients. We assessed these specimens using whole exome sequencing, RNA-sequencing, and ex vivo drug sensitivity analyses. Our data reveal novel mutational events not previously detected in AML. We show association of drug response with mutational status, including instances of drug sensitivity that are specific to combinatorial mutational events. Integration with RNA-sequencing also revealed gene expression signatures, which predict a role of specific gene networks in drug response. Collectively, this report offers a dataset, accessible by the Beat AML data viewer, that can be leveraged to address clinical, genomic, transcriptomic, and functional inquiries into the biology of AML. NCT 01728402 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001657

Link

dbGaP study=phs001657

Keywords

  1. 4/27/22 4/27/22 - Martin Dugas
  2. 4/27/22 4/27/22 - Martin Dugas
  3. 4/27/22 4/27/22 - Martin Dugas
  4. 4/27/22 4/27/22 - Martin Dugas
  5. 5/12/22 5/12/22 - Martin Dugas
  6. 5/12/22 5/12/22 - Martin Dugas
  7. 10/12/22 10/12/22 - Adrian Schulz
  8. 6/22/23 6/22/23 - Dr. Christian Niklas
  9. 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder

Jeffrey W. Tyner, PhD. Oregon Health and Science University, Knight Cancer Institute, Portland, OR, USA

Uploaded on

January 29, 2025

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs001657 Functional Genomic Landscape of Acute Myeloid Leukemia

    Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1

    1. StudyEvent: dbGaP phs001657 Functional Genomic Landscape of Acute Myeloid Leukemia
      1. Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1
    Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    Description

    Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

    De-identified subject ID
    Description

    phv00417529

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C4684638 (De-identified Information)
    Consent group as determined by DAC
    Description

    phv00417530

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C1547872 (Consent Type)
    Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
    Description

    phv00417531

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)
    Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    Description

    Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

    Subject ID
    Description

    phv00417532

    Data type

    string

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

    phv00417533

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Sample Use
    Description

    phv00417534

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C1524063 (Use of)
    SNOMED
    260676000
    Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    Description

    Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.

    De-identified sample ID
    Description

    phv00417535

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    UMLS CUI [1,2]
    C4684638 (De-identified Information)
    Analyte type
    Description

    phv00417536

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Description

    phv00417537

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005

    Similar models

    Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1

    1. StudyEvent: dbGaP phs001657 Functional Genomic Landscape of Acute Myeloid Leukemia
      1. Functional Genomic Landscape of Acute Myeloid LeukemiaNCT 01728402dbGaP Study Accession: phs001657.v1
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    Subject ID, consent group, and affection status of participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    phv00417529
    Item
    De-identified subject ID
    text
    C2348585 (UMLS CUI [1,1])
    C4684638 (UMLS CUI [1,2])
    Item
    Consent group as determined by DAC
    text
    C1547872 (UMLS CUI [1,1])
    Code List
    Consent group as determined by DAC
    CL Item
    Disease-Specific (Leukemia) (DS-LEU) (1)
    Item
    Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case control status of the subject for leukemia [Case=subjects with acute myeloid leukemia; Control=subjects without acute myeloid leukemia]
    CL Item
    Case (1)
    CL Item
    Control (2)
    Item Group
    Subject ID, sample ID, and sample use variable participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    phv00417532
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    phv00417533
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    phv00417534
    Item
    Sample Use
    string
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])
    Item Group
    Sample ID, analyte type, and tumor status of samples obtained from participants with or without acute myeloid leukemia and involved in the "Functional Genomic Landscape of Acute Myeloid Leukemia" project.
    phv00417535
    Item
    De-identified sample ID
    string
    C1299222 (UMLS CUI [1,1])
    C4684638 (UMLS CUI [1,2])
    phv00417536
    Item
    Analyte type
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is normal (N)
    CL Item
    Is tumor (Y)

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