Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group

Area of Science:

• Oncology
• Genomics
• Molecular Pathology

Background:

• Bone and soft tissue sarcomas (BSTS) are heterogeneous mesenchymal tumors with complex genetic alterations.
• The role of specific genomic signatures in BSTS prognosis and therapy response requires further elucidation.
• Current adoption of massive parallel sequencing (MPS)/next-generation sequencing (NGS) in BSTS is hindered by practical challenges.

Purpose of the Study:

• To establish best practices for integrating MPS/NGS into clinical care for BSTS.
• To refine diagnostic approaches and guide treatment strategies for BSTS using molecular profiling.
• To address challenges in MPS/NGS implementation and interpretation in BSTS.

Main Methods:

• Convened a consensus meeting with Italian Sarcoma Group (ISG) experts.
• Developed ten consensus statements on MPS/NGS for BSTS diagnostics and treatment.
• Proposed collaboration with the National Rare Cancer Network for expert consultation and outcome correlation.

Main Results:

• Consensus statements address the role of extended molecular profiling in BSTS diagnostics.
• Guidance is provided on MPS/NGS use and interpretation for actionable targets in advanced BSTS.
• Emphasis placed on harmonization and multidisciplinary collaboration within molecular tumor boards (MTBs).

Conclusions:

• Extended molecular profiling provides critical insights for BSTS diagnosis and patient stratification.
• Optimizing MPS/NGS use requires harmonization, collaboration, and standardized interpretation.
• Systematic correlation of MPS/NGS findings with clinical outcomes is essential for advancing precision medicine in BSTS.