Predictive biomarkers in daily anatomic pathology – is there something ready for sarcomas? A review and insights for future directions

Abstract

Abstract Sarcomas are tumors of mesenchymal origin that remain with poor prognosis. This review highlights some emerging predictive biomarkers that could drive personalized therapy, focusing on KIT, TP53, MDM2, CDK4 mutations, PRAME, INI1 and NF1. Research shows that there is a role for imatinib in some gastrointestinal stromal tumors with KIT mutations, and the TP53 mutation may someday serve as a biomarker to assist decision-making for neoadjuvant chemotherapy. Amplifications of MDM2 and CDK4 are currently targets for new therapeutical drugs. For PRAME, there is perspective for tumors with high CTA expression with some T-cell mediated therapies. INI1 loss can be a target for tazemetostat treatment in patients with advanced epithelioid sarcoma, and studies have shown a role for Selumetinib in patients with NF1 mutations related tumors.

Keywords

• Sarcoma
• Therapy
• Biomarker