Study: JGAS00000000017




TitleLeukemic evolution of donor-derived cells harboring IDH2 and DNMT3A mutations after allogeneic stem cell transplantation
AbstractAn individual with acute myeloid leukemia (AML) received peripheral blood stem cell (PBSC) transplantation, but later experienced relapse. Whole-exome sequencing of bone marrow cells obtained from different stages of this patient as well as PBSC of the donor revealed that relapsed AML was not the regrowth of the original leukemic clones, but donor cell leukemia (DCL). Interestingly, some of the oncogenic mutations found in DCL were already present at a low frequency in the donor PBSC. Target deep sequencing of these genes indeed confirmed this observation, and revealed that the emergence of additional oncogenic mutations triggered leukemic evolution.
Study Type 1
Study TypeExome Sequencing
Study Type 2
Study TypeCase-Control

Study Attribute

NBDC Numberhum0022
Registration date2015-01-27
Submitting organizationDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo
Accession Title Dataset type Data objects Policy
JGAD00000000017 Bam files of BM Random exome sequencing 5 JGAP00000000004