Molecular biology of sarcomas
Seance of wednesday 01 october 2025 (Les sarcomes actualités en 2025)
DOI number : 1026299/z2xa-nc82/emem.2025.40.06
Abstract
In 2025, molecular biology plays a central role in the diagnostic and therapeutic management of sarcomas, a heterogeneous group of rare tumors comprising more than one hundred different subtypes.
The routine use of next-generation sequencing (NGS) enables the identification of molecular alterations specific to certain sarcoma subtypes, such as gene fusions and translocations, mutations, or gene amplifications. In these cases, the detection of such alterations allows for an accurate diagnosis of the sarcoma subtype, complementing histopathology and immunohistochemistry. Moreover, characterization of the overall genomic profile also helps determine the degree of malignancy in certain mesenchymal tumors with challenging diagnoses.
From a therapeutic standpoint, the integration of molecular biomarkers is essential for guiding treatment in specific sarcoma subtypes, such as GIST or fusion-driven “actionable” sarcomas. Molecular profiling also contributes to identifying patients who may benefit from immunotherapy, although its efficacy remains limited in the majority of sarcoma subtypes. Finally, precision medicine approaches based on treatments guided by molecular profiles, regardless of histology, can provide significant benefits in selected situations.
Overall, molecular biology is an indispensable tool to refine diagnosis, stratify patients, and develop novel individualized therapeutic options in both adult and pediatric sarcomas.
The routine use of next-generation sequencing (NGS) enables the identification of molecular alterations specific to certain sarcoma subtypes, such as gene fusions and translocations, mutations, or gene amplifications. In these cases, the detection of such alterations allows for an accurate diagnosis of the sarcoma subtype, complementing histopathology and immunohistochemistry. Moreover, characterization of the overall genomic profile also helps determine the degree of malignancy in certain mesenchymal tumors with challenging diagnoses.
From a therapeutic standpoint, the integration of molecular biomarkers is essential for guiding treatment in specific sarcoma subtypes, such as GIST or fusion-driven “actionable” sarcomas. Molecular profiling also contributes to identifying patients who may benefit from immunotherapy, although its efficacy remains limited in the majority of sarcoma subtypes. Finally, precision medicine approaches based on treatments guided by molecular profiles, regardless of histology, can provide significant benefits in selected situations.
Overall, molecular biology is an indispensable tool to refine diagnosis, stratify patients, and develop novel individualized therapeutic options in both adult and pediatric sarcomas.