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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0318-v1Release info

Latest

Research title

Clinical sequence of hematological malignancy

Research overview

Aims
Hematopoietic malignancies such as leukemia develop as a result of the accumulation of structural and functional abnormalities in the genome and epigenome in the originating undifferentiated hematopoietic stem and progenitor cells. However, the details of the pathogenesis and the processes leading to the onset of these disorders remain unresolved, and fundamental treatments based on the pathogenic mechanisms have not been established. In this study, we aim to clarify the genomic and epigenomic abnormalities involved in the pathogenesis of hematological diseases using a comprehensive genomic analysis, and to search for key molecules that will lead to accurate diagnosis and drug discovery for hematological diseases based on the mechanisms.
Methods
The patient's bone marrow (BM) samples were collected at three different time points during the clinical course. NGS was performed using extracted DNA from each BM sample via the TruSight Myeloid Panel on the MiSeq platform (Illumina). Oral epithelial cells were collected from buccal swabs served as a germline control.
Participants/materials
Bone marrow and oral mucosa samples from one B-cell acute lymphoblastic leukemia (B-ALL) patient
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000600NGS (Target Capture)
  • Targeted DNA sequencing
Controlled-access (Type I)2022-02-28

Data provider

Principal investigator
Arinobu Tojo
Affiliation
Department of Hematology/Oncology, Institute of Medical Science, University of Tokyo

Research projects

No research projects.

Grants

No grants.

Related publications

TitleDOIDataset ID
Repeated Lineage Switches in an Elderly Case of Refractory B-Cell Acute Lymphoblastic Leukemia With MLL Gene Amplification: A Case Report and Literature Review

Controlled access users

No use of the controlled access data has been recorded.