NBDC Research ID: hum0210.v1
SUMMARY
Aims: Elucidation of genomic pathology of a patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor
Methods: Whole exome sequencing was performed for both acute myeloid leukemia cells and mediastinal germ cell tumor cells, and somatic mutations of both tumor cells were identified, using normal buccal cells as a control.
Participants/Materials: Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000211 | NGS (Exome) | Controlled-access (Type I) | 2020/04/06 |
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MOLECULAR DATA
| Participants/Materials |
Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor (ICD10: C920, C383): 1 case (3 samples) acute myeloid leukemia cells from bone marrow aspirates: 1 sample mediastinal germ cell tumor cells: 1 sample normal buccal cells: 1 sample |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NextSeq 500] |
| Library Source | DNAs extracted from tumor and non-tumor cells |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon v6 |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000297 |
| Total Data Volume | 28 GB (bam [ref: hg19]) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Kazuya Shimoda
Affiliation: Division of Gastroenterology and Hematology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| National Cancer Center Research and Development Funds | Development of a comprehensive genomic profiling assay for hematological malignancies. | 30-A-1 |
| Grant-in-Aid for Clinical Research from University of Miyazaki Hospital | Establishment of a method to identify high-risk groups for the development of hematological tumors. | 30-GH-3 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia. | doi: 10.1186/s12885-019-6497-0 | JGAD000297 |
| 2 |
USRES (Controlled-Access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
