Journal article
Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma
EC Andrew, J Lewin, J Desai, L Orme, A Hamilton, S Bae, W Zhu, S Nicolson, LN Varghese, CB Mitchell, JHA Vissers, H Xu, SM Grimmond, SB Fox, SJ Luen
Journal of Personalized Medicine | MDPI | Published : 2024
DOI: 10.3390/jpm14020128
Open access
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. Clinic..
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Funding Acknowledgements
We would like to acknowledge Kym Pham Stewart, Oliver Hofmann, and the University of Melbourne Centre for Cancer Research Clinical Genomics Platform for performing whole genome/transcriptome sequencing analysis.