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Published on: September 13, 2022
Molecular profiling in desmoplastic small round cell tumours
Yuen Bun Tam1, Robin L Jones2, Paul H Huang1
1Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom.
Abstract:
Desmoplastic small round cell tumour (DSRCT) is an ultra-rare soft tissue sarcoma that is characterised by aggressive disease and dismal patient outcomes. Despite multi-modal therapy, prognosis remains poor and there are currently no effective targeted therapies available for patients with this disease. Advances in comprehensive molecular profiling approaches including next generation sequencing and proteomics hold the promise of identifying new therapeutic targets and biomarkers. In this review, we provide an overview of the current status of molecular profiling studies in DSRCT patient specimens and cell lines, highlighting the key genomic, epigenetic and proteomic findings that have contributed to our biological knowledge base of this recalcitrant disease. In-depth analysis of these molecular profiles has led to the identification of promising novel and repurposed candidate therapies that are suitable for translation into clinical trials. We further provide a perspective on how future integrated studies including proteogenomics could further enrich our understanding of this ultra-rare entity and deliver progress that will ultimately impact the outcomes of patients with DSRCT.
Insights
Desmoplastic small round cell tumour (DSRCT) is a rare cancer with poor outcomes. Molecular profiling reveals new therapeutic targets and biomarkers for this aggressive soft tissue sarcoma.
Area of Science:
- Oncology
- Genomics
- Proteomics
Background:
- Desmoplastic small round cell tumour (DSRCT) is an ultra-rare, aggressive soft tissue sarcoma with dismal patient outcomes.
- Current multi-modal therapies offer limited efficacy, and targeted treatments are lacking for DSRCT.
- Understanding the molecular landscape of DSRCT is crucial for developing effective therapeutic strategies.
Approach:
- This review summarizes current molecular profiling studies in DSRCT, including next-generation sequencing and proteomics.
- It highlights key genomic, epigenetic, and proteomic findings from DSRCT patient specimens and cell lines.
- The review discusses the potential of these findings to identify novel and repurposed therapeutic candidates.
Key Points:
- Comprehensive molecular profiling has significantly advanced our understanding of DSRCT biology.
- Genomic, epigenetic, and proteomic data have identified several promising therapeutic targets.
- Candidate therapies derived from molecular profiling are suitable for clinical trial translation.
Conclusions:
- Molecular profiling is essential for advancing DSRCT research and improving patient outcomes.
- Future integrated studies, such as proteogenomics, could further elucidate DSRCT biology.
- Targeted therapies based on molecular insights hold promise for treating this rare cancer.
