Abstract 82P
Background
Precision Medicine and new techniques such as NGS have completely changed the diagnosis and treatment of cancer. Bone and soft tissue sarcomas are a rare, heterogeneous group of tumors with complex management. Several studies have reported the potential benefits of precision oncology in clinical practice across all tumor types. Horak et al reported a significant impact in PFS ratio in 1/3 of patients with molecular information (8.2% of the total population) leading to alteration of initial diagnosis and clinical approach in 4.4%. Gounder et al showed changes in previous diagnosis and treatment in 5% of patients. We aimed to assess the impact of NGS in the diagnostic process and PFS of sarcomas on a real-world scale.
Methods
Retrospective single-center analysis of bone/soft tissue sarcoma patients followed at our center from 01/21-05/22 in whom NGS was performed. Many clinical, pathological and genomic variables were collected from electronic medical records, as well as information regarding response to treatment. Genomic analysis was performed by extraction and purification of both genomic DNA and RNA (solid tumor panel) or exclusively genomic RNA (sarcoma panel) from paraffin-embedded tissue sample. Descriptive and statistical analysis of the data, focused on sequencing results, changes in diagnosis, changes in treatment and treatment indicated by NGS target, was performed. PFS was analyzed at different points in patients with relevant molecular information.
Results
73 patients with a confirmed diagnosis of bone or soft tissue sarcoma and available NSG results were analyzed. Mean age at diagnosis was 45. Most frequent primary tumor site was retroperitoneum (21/73). Genomic tests detected fusions and/or pathogenic mutations in 36 patients (49.3%). In 6/36 patients with genomic alterations (16.7%), results led to change in diagnosis and/or treatment (8.2% of patients with NGS data).
Conclusions
The use of systematic NGS in clinical practice could significantly improve the diagnostic process and management of patients with sarcomas. In our sample, the probability of detecting fusions/pathogenic variants was almost 50%. Similarly to other studies, 8.2% changed their initial diagnosis or treatment.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
HGUGM.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.