Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Clinical Impact of Comprehensive Molecular Profiling in Adolescent and Young Adults with Sarcoma

Eden C Andrew
ORCID logo ,
Jeremy Lewin
,
Jayesh Desai
,
Lisa Orme
,
Anne Hamilton
,
Susie Bae
,
Wenying Zhu
,
Shannon Nicolson
,
Leila N Varghese
,
Camilla B Mitchell
,
Joseph H.A. Vissers
ORCID logo ,
Huiling Xu
,
Sean M Grimmond
,
Stephen B Fox
ORCID logo ,
Stephen J Luen
*
Version 1 : Received: 1 December 2023 / Approved: 1 December 2023 / Online: 1 December 2023 (08:09:28 CET)

A peer-reviewed article of this Preprint also exists.

Andrew, E.C.; Lewin, J.; Desai, J.; Orme, L.; Hamilton, A.; Bae, S.; Zhu, W.; Nicolson, S.; Varghese, L.N.; Mitchell, C.B.; Vissers, J.H.A.; Xu, H.; Grimmond, S.M.; Fox, S.B.; Luen, S.J. Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma. J. Pers. Med. 2024, 14, 128. Andrew, E.C.; Lewin, J.; Desai, J.; Orme, L.; Hamilton, A.; Bae, S.; Zhu, W.; Nicolson, S.; Varghese, L.N.; Mitchell, C.B.; Vissers, J.H.A.; Xu, H.; Grimmond, S.M.; Fox, S.B.; Luen, S.J. Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma. J. Pers. Med. 2024, 14, 128.

Abstract

Sarcomas are a heterogenous group of tumours that commonly carry poor prognosis with limited therapeutic options. Adolescents and young adults (AYA) with sarcoma are a unique and under-studied patient population that have only achieved modest survival gains compared to other groups. We present our institutional experience of AYA with sarcoma who underwent comprehensive molecular profiling (CMP) using 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 the Molecular Tumour Board evaluation. 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 of diagnosis. Implementation for CMP for AYA with sarcoma is clinically valuable, feasible and should be increasingly integrated into routine clinical practice as technologies and turnaround times continue to improve.

Keywords

Adolescents and young adults (AYA) cancer; molecular profiling; precision oncology; genomics; whole genome sequencing; next-generation sequencing; sarcoma; diagnostic biomarkers

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.