ID
45428
Descripción
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.
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Versiones (1)
- 28/11/22 28/11/22 - Adrian Schulz
Titular de derechos de autor
Ravindra Majeti, MD, PhD, Stanford University, Stanford, CA, USA
Subido en
28 de noviembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000549 Clonal Evolution of Pre-Leukemic HSC Precedes Human AML
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with acute myeloid leukemia and involved in the "Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia" project.
- 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.
- 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.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, histological type of samples, and karyotype of tumors 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.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with acute myeloid leukemia and involved in the "Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia" project.
- 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.
- 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.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, histological type of samples, and karyotype of tumors 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.
C0680251 (UMLS CUI [1,2])