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CC BY 4.0 · Indian J Med Paediatr Oncol 2025; 46(04): 377-383
DOI: 10.1055/s-0045-1805022
Original Article

Prospective Genomic Profiling Study in Sarcoma Patients

Authors

  • Gwo Fuang Ho

    1   Clinical Oncology Unit, Faculty of Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia

  • E Von Cheong

    2   Department of Clinical Oncology, First Floor Menara Timur, University of Malaya Medical Centre, Lembah Pantai, Kuala Lumpur, Malaysia

  • Wei Ying Chye

    2   Department of Clinical Oncology, First Floor Menara Timur, University of Malaya Medical Centre, Lembah Pantai, Kuala Lumpur, Malaysia

  • Kein Seong Mun

    3   Department of Pathology, Faculty of Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia

  • Rozita Abdul Malik

    1   Clinical Oncology Unit, Faculty of Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia

  • Marniza Saad

    1   Clinical Oncology Unit, Faculty of Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia

Funding The FoundationOne Heme tests were funded by Roche Malaysia.
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Abstract

Introduction Sarcoma is a heterogenous group of malignancy with diverse pathology and clinical behavior. Survival rates differ among histological subtypes, but overall prognosis remains poor due to the scarcity of effective systemic therapies. An insight into the genomic characteristics of different sarcoma histological subtypes enhances our understanding of the disease and highlights potential targeted therapies.

Objective We aim to enhance our understanding on the genomic profile of sarcomas and identify actionable genetic variants with the associated targeted therapies.

Materials and Methods A prospective tumor genomic profiling study was conducted via next-generation sequencing, involving 30 patients with a diagnosis of soft tissue or bone sarcoma at the University of Malaya Medical Centre. We evaluated the frequency and types of genomic aberrations and identified genomic variants with a therapeutic target.

Results A total of 70 genetic mutations were identified. The most frequently involved genes were TP53 (30.0%), followed by RB1 (20.0%), PIK3CA (10.0%), KIT (10.0%), PDGFR-α (10.0%), CKS1B (10.0%), KDR (10.0%), and MCL1 (10.0%). Genomic alteration involving the ALK gene was the only actionable variant identified. The DCTN1–ALK fusion was found to be targetable using entrectinib.

Conclusion Although the number of actionable variants identified was limited, such data are crucial for the selection of patients into clinical trials on novel therapies in the future and for establishing prognostic biomarkers.

Keywords

sarcoma - genomics - mutation - entrectinib

Data Availability Statement

The data (i.e., FoundationOne Heme test results) used to support the findings of this study are available from the corresponding author upon request.


Authors' Contributions

G.F.H. designed, conducted, and supervised the study. E.V.C. conducted the literature search and drafted and edited the manuscript. W.Y.C. performed data collection and assisted the patients in the enrollment process. K.S.M. reviewed and prepared the patients' tumor samples to ensure quality control standards were met for genomic profiling. R.A.M. was involved in patient recruitment. M.S. was involved in patient recruitment.


All the authors reviewed and approved the final manuscript. Each named author has substantially contributed to conducting this study and the writing of this article. This manuscript has been reviewed and approved by all the coauthors.


Patient's Consent

Written, informed consent was taken from each participant after explanation of the aims, methods, and anticipated benefits of the study.




Publication History

Article published online:
03 March 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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