ID

45428

Beskrivning

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.

Länk

dbGaP study = phs000549

Nyckelord

  1. 2022-11-28 2022-11-28 - Adrian Schulz
Rättsinnehavare

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

Uppladdad den

28 november 2022

DOI

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Licens

Creative Commons BY 4.0

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

Sample ID, subject ID, and sample use variables obtained from participants with acute myeloid leukemia and involved in the "Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia" project.

pht002991
Beskrivning

pht002991

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beskrivning

SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beskrivning

SAMPID

Datatyp

string

Alias
UMLS CUI [1,1]
C1299222
Sample use
Beskrivning

SAMPLE_USE

Datatyp

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Sample ID, subject ID, and sample use variables obtained from 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)
Datatyp
Alias
Item Group
pht002991
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample use
CL Item
Custom targeted sequences (CTS_SRA)
C4764114 (UMLS CUI [1,1])

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