Sarcoma Working Group
Working Group Charter
Genomic Diagnosis of Pediatric Sarcoma
Work Product Category
Manuscript or Publication: Literature review
Specific Aims for the Work Product
- Literature review of genomic aberrations and technologies for detection in pediatric sarcoma
- Best Practices recommendation and clinical scenarios for detection in pediatric sarcoma
From cytogenetic analysis and FISH testing to confirm classical subtype-specific translocations to NGS-based testing for the ever-expanding list of genetic variants, genes and novel gene fusion partners, genomic testing remains a central tool in the diagnosis and classification of sarcomas. With the advent of targeted therapies for NTRK-fusion positive sarcomas, genetic testing now becomes even more important.
This manuscript will consist of a literature review of genomic aberrations in pediatric sarcoma, technologies available for their detection, and a recommendation for best practices with example
clinical scenarios.
Working Group Members
Katie Schieffer
Nationwide Children's Hospital
Renu Bajaj
HNL Lab Medicine
Jennelle C. Hodge
Cincinnati Children’s Hospital Medical Center
Selene C. Koo
London St. Jude Children's Research Hospital
Josee Lavoie
McGill University Health Centre Glen Site Hospital and McGill University
Delores Lopez-Terrada
Texas Children's Hospital and Baylor College
Xinyan Lu
Northwestern University Feinberg School of Medicine
Minjie Luo
The Children’s Hospital of Philadelphia and University of Pennsylvania
Thuy Phung
University of South Alabama
Maxine Stucliffe
University of South Florida
Teresa A. Smolarek
Cincinnati Children’s Hospital Medical Center