Guidelines for Next-Generation Sequencing in Sarcoma Diagnosis and Treatment: A Consensus Review

Area of Science:

• Oncology
• Genomics
• Pathology

Background:

• Sarcomas are rare cancers with diverse genomic profiles and low mutational burden.
• Next-generation sequencing (NGS) is increasingly considered for sarcoma management.
• Challenges include rarity, heterogeneity, and limited molecular understanding of sarcomas.

Purpose of the Study:

• To evaluate the current evidence for routine use of NGS in sarcoma diagnosis and treatment.
• To determine the role of NGS in managing patients with sarcoma.
• To provide recommendations on the appropriate use of NGS in sarcoma care.

Main Methods:

• Review of existing evidence on NGS application in sarcoma.
• Analysis of diagnostic and therapeutic implications of NGS.
• Consensus discussion among sarcoma experts.

Main Results:

• Limited evidence supports routine, nonselective NGS use in all sarcoma cases.
• Not all sarcomas require NGS for diagnosis; many have classic histologic features.
• Few actionable alterations and limited clinical benefit from NGS-matched treatments currently exist.

Conclusions:

• The decision to use NGS panels should be made by sarcoma experts in specialized institutions.
• Multidisciplinary review is essential for interpreting NGS results.
• NGS results from nonexpert centers require expert re-evaluation.