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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

hum0267-v1Release info

Latest

Research title

Comprehensive gene mutation analysis of cancer-predisposing genes and cancer-causing genes in pediatric cancer/hematologic disease.

Research overview

Aims
Pediatric solid tumors are a diverse group of neoplasms, and accurate diagnosis of tumor subtype is necessary. The detection of disease-specific fusion genes such as EWSR1-FLI1 in Ewing Sarcoma and PAX3/7-FOXO1 in alveolar rhabdomyosarcoma, can improve the diagnosis of pediatric solid tumors. In addition, recent advances in techniques have identified several subtype-defining somatic genetic alterations, including internal tandem duplication of BCOR in clear cell sarcoma of the kidney, and MYOD1 p.Leu122Arg (p.L122R) in spindle cell/sclerosing rhabdomyosarcoma. In this study, we performed transcriptome analysis using RNA-sequencing to assess its clinical utility in the differential diagnosis of pediatric solid tumors.
Methods
We performed RNA-sequencing in 47 children who suspected of sarcoma and analyzed disease-specific gene alterations (include novel gene alterations).
Participants/materials
Forty-seven children, who were suspicious of sarcoma.
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000390NGS (RNA-seq)
  • RNA-seq
Controlled-access (Type I)2025-02-17

Data provider

Principal investigator
Manabu Wakamatsu
Affiliation
Department of Pediatrics, Nagoya University Graduate School of Medicine

Research projects

No research projects.

Grants

No grants.

Related publications

TitleDOIDataset ID
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
https://doi.org/10.1038/s41525-021-00210-y (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.