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ID

45428

Beschreibung

Principal Investigator: Ravindra Majeti, MD, PhD, Stanford University, Stanford, CA, USA MeSH: Leukemia, Myeloid, Acute https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000549 Acute myeloid leukemia is an aggressive clonal malignancy of the bone marrow that is the direct result of sequential acquisition of mutations in a single lineage of cells. In this study, we investigate a model in which this mutational acquisition occurs serially in long-lived self-renewing hematopoietic stem cells eventually resulting in frank acute myeloid leukemia. Coding mutations in multiple AML patients were identified using exome sequencing followed by sanger sequencing validation. The level of these mutations was then assessed in residual hematopoietic stem cells from each patient using targeted deep sequencing. These population-level estimates of mutant allele burden were then validated in single cell assays targeted to the identified mutations. This allowed for determination of the order of acquisition of the mutations that preceded the development of the leukemia. The results of this study identify pre-leukemic hematopoietic stem cell clones that could contribute to patient relapse and outcome.

Link

dbGaP study = phs000549

Stichworte

  1. 28.11.22 28.11.22 - Adrian Schulz
Rechteinhaber

Ravindra Majeti, MD, PhD, Stanford University, Stanford, CA, USA

Hochgeladen am

28. November 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000549 Clonal Evolution of Pre-Leukemic HSC Precedes Human AML

    Subject ID, age, white blood cell count at time of diagnosis, somatic internal tandem duplication in FLT3, and sex of participants with acute myeloid leukemia and involved in the "Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia" project.

    pht002992
    Beschreibung

    pht002992

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified subject ID
    Beschreibung

    SUBJID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Disease onset age
    Beschreibung

    age

    Datentyp

    text

    Maßeinheiten
    • years
    Alias
    UMLS CUI [1,1]
    C0206132 (Age of Onset)
    years
    Gender of participant
    Beschreibung

    sex

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2
    White blood cell count at time of diagnosis
    Beschreibung

    WBC Count

    Datentyp

    text

    Maßeinheiten
    • cells/ul
    Alias
    UMLS CUI [1,1]
    C0427512 (White blood cell count laboratory result)
    SNOMED
    365630000
    UMLS CUI [1,2]
    C5203987 (At Time of Diagnosis)
    cells/ul
    Somatic internal tandem duplication in FLT3 (Entrez GeneID: 2322) [Positive, Negative]
    Beschreibung

    Flt3-ITD Status

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4068107 (FLT3 gene internal tandem duplication)
    LOINC
    MTHU050930

    Ähnliche Modelle

    Subject ID, age, white blood cell count at time of diagnosis, somatic internal tandem duplication in FLT3, and sex of participants with acute myeloid leukemia and involved in the "Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia" project.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht002992
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    De-identified subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    age
    Item
    Disease onset age
    text
    C0206132 (UMLS CUI [1,1])
    Item
    Gender of participant
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Gender of participant
    CL Item
    Male (M)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (F)
    C0086287 (UMLS CUI [1,1])
    WBC Count
    Item
    White blood cell count at time of diagnosis
    text
    C0427512 (UMLS CUI [1,1])
    C5203987 (UMLS CUI [1,2])
    Flt3-ITD Status
    Item
    Somatic internal tandem duplication in FLT3 (Entrez GeneID: 2322) [Positive, Negative]
    string
    C4068107 (UMLS CUI [1,1])

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