NBDC Research ID: hum0405.v2

 

SUMMARY

Aims: In recent years, "cancer stem cells" have been reported to exist in many cancers. Many reports have shown that they are the main cause of cancer recurrence. The aim of this study is to test whether cancer stem cells can be identified using patient samples. We will perform omics analysis of rare pediatric cancers by integrating genomics, transcriptomics, proteomics and metabolomics, including somatic and germline mutations, to deepen our understanding of the biological characteristics of the target disease. Based on the knowledge gained and clinical information from patients, we will conduct preclinical pharmacological studies using mouse models and in vitro models to investigate the therapeutic effects of novel therapeutic agents and novel therapeutic strategies such as cellular therapies.

Methods: WES, RNA-seq and Small RNA-seq

Participants/Materials:

      Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases

      Pediatric acute myeloid leukemia: 9 cases

 

Dataset IDType of DataCriteriaRelease Date
JGAS000623

NGS (Exome)

NGS (RNA-seq)

NGS (small RNA-seq)

Controlled-access (Type I) 2023/12/25
JGAS000631

NGS (Exome)

NGS (RNA-seq)

Controlled-access (Type I) 2025/07/16

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

MOLECULAR DATA

 

Exome

Participants/Materials

Pediatric B-cell precursor acute lymphocytic leukemia (ICD10: C910): 64 cases

    leukemia cells from peripheral blood or bone marrow fluid: 64 samples

Pediatric acute myeloid leukemia (ICD10: C920): 3 cases

    whole blood or bone marrow aspirates at the time of remission or relapse: 6 samples

Targets Exome
Target Loci for Capture Methods -
Platform MGI [DNBSEQ-G400RS]
Library Source DNAs extracted from leukemia cells
Cell Lines -
Library Construction (kit name) Lotus DNA Library Prep Kit, xGen Exome Research Panel
Fragmentation Methods Restriction enzyme reaction
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Mapping Methods Genomon v2.6.2
Mapping Quality Reads and variants with MAPQ< 20 or base call quality< 15 were excluded.
Reference Genome Sequence GRCh37
Coverage (Depth) 129
Japanese Genotype-phenotype Archive Dataset ID

JGAD000752: Pediatric B-cell precursor acute lymphocytic leukemia

JGAD000761: Pediatric acute myeloid leukemia

Total Data Volume

JGAD000752: 935.2 GB (fastq)

JGAD000761: 180.6 GB (bam, bai)

Comments (Policies) NBDC policy

 

RNA-seq

Participants/Materials

Pediatric B-cell precursor acute lymphocytic leukemia (ICD10: C910): 69 cases

    leukemia cells from peripheral blood or bone marrow fluid: 69 samples

Pediatric acute myeloid leukemia (ICD10: C920): 9 cases (5 cases revealed pediatric B-cell precursor acute lymphocytic leukemia at onset and Pediatric acute myeloid leukemia at relapse)

    whole blood or bone marrow aspirates at disease onset or relapse: 15 samples

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq X]
Library Source RNAs extracted from leukemia cells
Cell Lines -
Library Construction (kit name) NEBNext Ultra II Directional RNA Library Prep Kit for Illumina
Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Mapping Methods Genomon v2.6.2
Mapping Quality unmapped reads < 5%
Reference Genome Sequence GRCh37
Coverage (Depth) Uniquely mapped reads >90%
Japanese Genotype-phenotype Archive Dataset ID

JGAD000752: Pediatric B-cell precursor acute lymphocytic leukemia

JGAD000761: Pediatric acute myeloid leukemia

Total Data Volume

JGAD000752: 935.2 GB (fastq)

JGAD000761: 180.6 GB (bam, bai)

Comments (Policies) NBDC policy

 

small RNA-seq

Participants/Materials

Pediatric B-cell precursor acute lymphocytic leukemia (ICD10: C910): 69 cases

    leukemia cells from peripheral blood or bone marrow fluid: 69 samples

Targets small RNA-seq
Target Loci for Capture Methods -
Platform Illumina [NextSeq 550]
Library Source RNAs extracted from leukemia cells
Cell Lines -
Library Construction (kit name) NEXTflex Small RNA Sequencing kit v3
Fragmentation Methods -
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 75 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD00752
Total Data Volume 935.2 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Junko Takita

Affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED) Study of spatiotemporal variety of intractable pediatric cancers and development of new drugs JP22ama221505
KAKENHI Grant-in-Aid for Scientific Research (B) Development of novel therapeutic strategies for intractable pediatric cancers based on the multi-omics information 17H04224
KAKENHI Grant-in-Aid for Scientific Research (A) Integrated analysis of mechanisms of genetic susceptibility to cancer and clonal evolution in pediatric cancer 20H00528
KAKENHI Grant-in-Aid for Challenging Research (Exploratory) Development of novel therapeutic strategies for pediatric solid tumor based on non-driver gene targeted approaches 21K19405
KAKENHI Grant-in-Aid for Challenging Research (Exploratory) Elucidation of crosstalk between neurodevelopmental disorders and tumorigenesis and development of novel therapeutic drugs 23K18264

 

PUBLICATIONS

TitleDOIDataset ID
1 RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia doi: 10.1182/bloodadvances.2023011583 JGAD000752
2 Multi-omics analysis identifies an M-MDSC-like immunosuppressive phenotype in lineage-switched AML with KMT2A rearrangement JGAD000761

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use