Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma
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 i...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/14/2/128 |
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| author | Eden C. Andrew Jeremy Lewin Jayesh Desai Lisa Orme Anne Hamilton Susie Bae Wenying Zhu Shannon Nicolson Leila N. Varghese Camilla B. Mitchell Joseph H. A. Vissers Huiling Xu Sean M. Grimmond Stephen B. Fox Stephen J. Luen |
| author_facet | Eden C. Andrew Jeremy Lewin Jayesh Desai Lisa Orme Anne Hamilton Susie Bae Wenying Zhu Shannon Nicolson Leila N. Varghese Camilla B. Mitchell Joseph H. A. Vissers Huiling Xu Sean M. Grimmond Stephen B. Fox Stephen J. Luen |
| author_sort | Eden C. Andrew |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T22:25:42Z |
| format | Article |
| id | doaj.art-68d59d91727a47269eb52c73e523201c |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-07T22:25:42Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-68d59d91727a47269eb52c73e523201c2024-02-23T15:23:37ZengMDPI AGJournal of Personalized Medicine2075-44262024-01-0114212810.3390/jpm14020128Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with SarcomaEden C. Andrew0Jeremy Lewin1Jayesh Desai2Lisa Orme3Anne Hamilton4Susie Bae5Wenying Zhu6Shannon Nicolson7Leila N. Varghese8Camilla B. Mitchell9Joseph H. A. Vissers10Huiling Xu11Sean M. Grimmond12Stephen B. Fox13Stephen J. Luen14Department of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaDepartment of Pathology and Cancer Research Division, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaCentre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, AustraliaSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC 3010, AustraliaDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Parkville, VIC 3000, AustraliaSarcomas 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.https://www.mdpi.com/2075-4426/14/2/128adolescents and young adults (AYAs) with cancermolecular profilingprecision oncologygenomicswhole genome sequencingnext-generation sequencing |
| spellingShingle | Eden C. Andrew Jeremy Lewin Jayesh Desai Lisa Orme Anne Hamilton Susie Bae Wenying Zhu Shannon Nicolson Leila N. Varghese Camilla B. Mitchell Joseph H. A. Vissers Huiling Xu Sean M. Grimmond Stephen B. Fox Stephen J. Luen Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma Journal of Personalized Medicine adolescents and young adults (AYAs) with cancer molecular profiling precision oncology genomics whole genome sequencing next-generation sequencing |
| title | Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma |
| title_full | Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma |
| title_fullStr | Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma |
| title_full_unstemmed | Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma |
| title_short | Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma |
| title_sort | clinical impact of comprehensive molecular profiling in adolescents and young adults with sarcoma |
| topic | adolescents and young adults (AYAs) with cancer molecular profiling precision oncology genomics whole genome sequencing next-generation sequencing |
| url | https://www.mdpi.com/2075-4426/14/2/128 |
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