Molecular profiling of 888 pediatric tumors informs future precision trials and data-sharing initiatives in pediatric cancer.
Suzanne J ForrestHersh GuptaAbigail WardYvonne Y LiDuong DoanAlyaa Al-IbraheemiSanda AlexandrescuPratiti BandopadhayaySuzanne ShustermanElizabeth A MullenNatalie B CollinsSusan N ChiKaren D WrightPriti KumariTali MazorKeith L LigonPriyanka ShivdasaniMonica ManamLaura E MacConaillEvelina CecaSidney N BenichWendy B LondonRichard L SchilskySuanna Steeby BruinoogeJaime M Guidry AuvilEthan CeramiBarrett J RollinsMatthew L MeyersonNeal I LindemanBruce E JohnsonAndrew D CherniakAlanna J ChurchKatherine A JanewayPublished in: Nature communications (2024)
To inform clinical trial design and real-world precision pediatric oncology practice, we classified diagnoses, assessed the landscape of mutations, and identified genomic variants matching trials in a large unselected institutional cohort of solid tumors patients sequenced at Dana-Farber / Boston Children's Cancer and Blood Disorders Center. Tumors were sequenced with OncoPanel, a targeted next-generation DNA sequencing panel. Diagnoses were classified according to the International Classification of Diseases for Oncology (ICD-O-3.2). Over 6.5 years, 888 pediatric cancer patients with 95 distinct diagnoses had successful tumor sequencing. Overall, 33% (n = 289/888) of patients had at least 1 variant matching a precision oncology trial protocol, and 14% (41/289) were treated with molecularly targeted therapy. This study highlights opportunities to use genomic data from hospital-based sequencing performed either for research or clinical care to inform ongoing and future precision oncology clinical trials. Furthermore, the study results emphasize the importance of data sharing to define the genomic landscape and targeted treatment opportunities for the large group of rare pediatric cancers we encounter in clinical practice.
Keyphrases
- clinical trial
- palliative care
- single cell
- papillary thyroid
- end stage renal disease
- newly diagnosed
- childhood cancer
- ejection fraction
- healthcare
- chronic kidney disease
- copy number
- electronic health record
- machine learning
- young adults
- randomized controlled trial
- cancer therapy
- big data
- squamous cell
- phase ii
- gene expression
- primary care
- prognostic factors
- squamous cell carcinoma
- peritoneal dialysis
- study protocol
- phase iii
- patient reported outcomes
- lymph node metastasis
- health information
- drug delivery
- single molecule
- pain management
- circulating tumor
- genome wide
- double blind
- cell free