NBDC Research ID: hum0367.v1



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 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: DNAs extracted from bone marrow (BM) and lymph node (LN) samples at the time of diagnosis were subjected to a target capture sequencing analysis by using the Human Myeloid Neoplasms QIAseq Targeted DNA Panel.

Participants/Materials: Langerhans cell histiocytosis (LCH)


Dataset IDType of DataCriteriaRelease Date
JGAS000558 NGS (Target Capture) Controlled-access (Type I) 2021/09/21

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LCH (ICD10: C96.6): 1 case

    BM and LN: 1 sample each

Targets Target Capture
Target Loci for Capture Methods Human Myeloid Neoplasms QIAseq Targeted DNA Panel
Platform Illumina [MiSeq]
Library Source DNAs extracted from BM and LN
Cell Lines -
Library Construction (kit name) PCR amplicon sequencing (Human Myeloid Neoplasms QIAseq Targeted DNA Panel)
Fragmentation Methods Enzymatic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000680
Total Data Volume 736.7 MB (fastq)
Comments (Policies) NBDC policy



Principal Investigator: Arinobu Tojo

Affiliation: Department of Hematology/Oncology, Institute of Medical Science, University of Tokyo

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number



TitleDOIDataset ID
1 Case report: Common clonal origin of concurrent langerhans cell histiocytosis and acute myeloid leukemia doi: 10.3389/fonc.2022.974307 JGAD000680


USRES (Controlled-access Data)

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