NBDC Research ID: hum0289.v1

 

SUMMARY

Aims: Disease relapse is a major cause of treatment failure after allogeneic hematopoietic cell transplantation (HCT), and mechanisms on relapse still remain to be elucidated. We experienced a patient with chronic myelomonocytic leukemia (CMML) who underwent haploidentical HCT from his daughter and developed relapse. To understand the mechanisms on relapse after HCT, we analyze blood samples at HCT and at relapse.

Methods: We analyzed peripheral blood samples that had been collected at HCT and relapse. CD14+/CD16- monocytes that accumulate typically in CMML were isolated by flow cytometry. Whole-exome sequencing, RNA sequencing, and methylation array were performed to determine the mechanism of relapse.

Participants/Materials: chronic myelomonocytic leukemia (CMML): 1 case; peripheral blood samples that had been collected at allogeneic hematopoietic cell transplantation and relapse (2 samples)

 

Dataset IDType of DataCriteriaRelease Date
JGAS000317

NGS (RNA-seq)

NGS (Exome)

Methylation array

Controlled-access (Type I) 2022/09/09

*Release Note

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MOLECULAR DATA

RNA-seq

Participants/Materials

chronic myelomonocytic leukemia (CMML) (ICD10: C93.1): 1 case (2 samples)

    peripheral blood samples collected at HCT and relapse

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source RNAs extracted from CD14+/CD16- monocytes isolated from peripheral blood samples
Cell Lines -
Library Construction (kit name) SMART-seq Stranded kit
Fragmentation Methods SMART-seq Stranded kit
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
QC

NovaSeq Control Software v1.6.0

Real Time Analysis (RTA) v3.4.4

bcl2fastq2 v2.20

Mapping Methods

Genedata Profiler Genome 13.0.11

STAR 2.6.0c

Coverage (Depth) 76.3-84.1%
Japanese Genotype-phenotype Archive Dataset ID JGAD000428
Total Data Volume 23.9 GB (bam [ref: hg19])
Comments (Policies) NBDC policy

 

Exome

Participants/Materials

chronic myelomonocytic leukemia (CMML) (ICD10: C93.1): 1 case (2 samples)

    peripheral blood samples collected at HCT and relapse

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source DNAs extracted from CD14+/CD16- monocytes isolated from peripheral blood samples
Cell Lines -
Library Construction (kit name) SureSelectXT Reagent kit, SureSelectXT Human All Exon kit V6 (Agilent Technology)
Fragmentation Methods Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
QC

NovaSeq Control Software v1.6.0

Real Time Analysis (RTA) v3.4.4

bcl2fastq2 v2.20

Mapping Methods

DRAGEN Bio-IT Platform 3.5.7

SnpEff v4.2

VCFtools 0.1.9

Coverage (Depth) >99%
Japanese Genotype-phenotype Archive Dataset ID JGAD000428
Total Data Volume 23.9 GB (bam [ref: hg19])
Comments (Policies) NBDC policy

 

Methylation array

Participants/Materials

chronic myelomonocytic leukemia (CMML) (ICD10: C93.1): 1 case (2 samples)

    peripheral blood samples collected at HCT and relapse

Targets Methylation array
Target Loci for Capture Methods -
Platform Illumina [Infinium MethylationEPIC BeadChip Kit]
Library Source DNAs extracted from CD14+/CD16- monocytes isolated from peripheral blood samples
Cell Lines -
Library Construction (kit name) Infinium MethylationEPIC BeadChip
Algorithms for Calculating Methylation-rate (software)

iScan System 309171 Rev B

iScan Control Software 3.4.8

Filtering Methods

GenomeStudio Software V2011.1

Methylation Module 1.9.0

Normalization of microarray

GenomeStudio Software V2011.1

Methylation Module 1.9.0

Probe Number 850,000 probes (Infinium MethylationEPIC BeadChip)
Japanese Genotype-phenotype Archive Dataset ID JGAD000428
Total Data Volume 23.9 GB (bpm)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Yu Akahoshi

Affiliation: Saitama Medical Center, Jichi Medical University

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
- - -

 

PUBLICATIONS

TitleDOIDataset ID
1 Emergence of clone with PHF6 nonsense mutation in chronic myelomonocytic leukemia at relapse after allogeneic HCT doi: 10.1007/s12185-021-03284-7 JGAD000428
2

 

USRES (Controlled-access Data)

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