Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Inherited bone marrow failure syndromes].

[Rinsho ketsueki] The Japanese journal of clinical hematology·2026
Same author

Cytarabine-based induction and oral maintenance therapy for a single system with single-site Langerhans cell histiocytosis.

International journal of hematology·2026
Same author

Clinical Characteristics and Outcomes of Acute Megakaryoblastic Leukemia With t(1;22)(p13;q13) in Children.

Pediatric blood & cancer·2026
Same author

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis.

Journal of human immunity·2026
Same author

Reticular Dysgenesis in an Extremely Low Birth Weight Infant: A Case Report.

Journal of clinical immunology·2026
Same author

Utility of Integrating Genome-Wide Postmortem Testing into Clinical Autopsy Practice in Pediatrics: A Retrospective, Single-Center Study.

Fetal and pediatric pathology·2026

Related Experiment Video

Updated: Nov 2, 2025

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres
06:52

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres

Published on: July 22, 2020

6.7K

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

Daisuke Ichikawa1, Kyoko Yamashita2,3, Yusuke Okuno4

  • 1Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

NPJ Genomic Medicine
|June 16, 2021
PubMed
Summary

RNA-sequencing aids in diagnosing challenging pediatric sarcomas. This genomic approach identified new genetic variants and refined diagnoses, potentially guiding targeted treatments for these rare childhood cancers.

More Related Videos

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
06:53

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Published on: June 8, 2019

8.9K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.6K

Related Experiment Videos

Last Updated: Nov 2, 2025

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres
06:52

Discovery of Driver Genes in Colorectal HT29-derived Cancer Stem-Like Tumorspheres

Published on: July 22, 2020

6.7K
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
06:53

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Published on: June 8, 2019

8.9K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.6K

Area of Science:

  • Oncology
  • Genomics
  • Pediatric Pathology

Background:

  • Pediatric solid tumors encompass over 100 subtypes, posing diagnostic challenges due to overlapping features.
  • Accurate histopathological diagnosis is often complicated by atypical presentations and similar immunohistochemical profiles.

Purpose of the Study:

  • To assess the diagnostic utility of RNA-sequencing (RNA-seq) in pediatric sarcoma cases.
  • To identify novel genetic alterations and refine diagnoses in challenging pediatric solid tumors.

Main Methods:

  • RNA-sequencing was performed on 47 patients with suspected pediatric sarcomas.
  • Consensus diagnoses were established by expert pediatric cancer histopathologists.
  • RNA-seq data underwent analysis for genetic variants and unsupervised clustering.

Main Results:

  • RNA-seq confirmed and refined diagnoses in 42 patients and identified diagnostic genetic variants in 4 of 5 undifferentiated sarcoma cases.
  • Genetic lesions were detected in 23 patients, including a novel SMARCA4-THOP1 fusion.
  • Distinct molecular subtypes were identified, including a cluster overexpressing rhabdomyosarcoma-associated genes.

Conclusions:

  • RNA-sequencing offers valuable genetic insights for diagnosing pediatric sarcomas.
  • This genomic approach can improve diagnostic accuracy and support the development of stratified treatment strategies for pediatric cancers.