Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma
Details
Publication Year 2024,Volume 14,Issue #2,Page 128
Journal Title
Journal of Personalized Medicine
Publication Type
Research article
Abstract
Sarcomas are a heterogenous group of tumours that commonly carry poor prognosis with limited therapeutic options. Adolescents and young adults (AYAs) with sarcoma are a unique and understudied patient population that have only achieved modest survival gains compared to other groups. We present our institutional experience of AYAs with sarcoma who underwent comprehensive molecular profiling (CMP) via either large-panel targeted DNA sequencing or whole genome and transcriptome sequencing and evaluated the feasibility and clinical impact of this approach. Genomic variants detected were determined to be clinically relevant and actionable following evaluation by the Molecular Tumour Board. Clinicians provided feedback regarding the utility of testing three months after reporting. Twenty-five patients who were recruited for CMP are included in this analysis. The median time from consent to final molecular report was 45 days (interquartile range: 37-57). Potentially actionable variants were detected for 14 patients (56%), and new treatment recommendations were identified for 12 patients (48%). Pathogenic germline variants were identified in three patients (12%), and one patient had a change in diagnosis. The implementation of CMP for AYAs with sarcoma is clinically valuable, feasible, and should be increasingly integrated into routine clinical practice as technologies and turnaround times continue to improve.
Department(s)
Medical Oncology; Pathology; AYA Cancer Service
PubMed ID
38392562
Open Access at Publisher's Site
https://doi.org/10.3390/jpm14020128
Terms of Use/Rights Notice
Refer to copyright notice on published article.


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