ID

45428

Descrizione

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.

collegamento

dbGaP study = phs000549

Keywords

versioni (1)

1. 28/11/22 28/11/22 - Adrian Schulz

Titolare del copyright

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

Caricato su

28 novembre 2022

DOI

Per favore, per richiedere un accesso.

Licenza