Molecular events underlying sarcoma development and progression: the diagnostic relevance

INTRODUCTION: Sarcomas are a very rare (<1% solid tumors) and highly heterogeneous group of malignant neoplasms with over 100 subtypes. The complexity and rarity of this disease pose serious troubles with differential diagnosis with the use of traditional methods (histology and immunohistochemistry); hence, there is more and more interest in the genetic background of sarcoma development and prognosis in search for genetic markers that might allow the improvement of the diagnostic process, disease prognosis, and monitoring. AREAS COVERED: This review provides a brief summary of current knowledge of the diagnostic relevance of the molecular background of sarcoma. It includes descriptions of traditional and novel methods for genetic alteration assessments, as well as perspectives on the diagnostic or prognostic use of certain genetic markers. EXPERT OPINION: The origin of most sarcomas remains not fully understood, even with rapid advances in high-precision molecular techniques. There is an ongoing need for further studies aimed to uncover the complete mechanisms behind the development and progression of these rare yet dangerous tumors, especially in light of improved differential diagnosis and targeted treatment options, including early phase clinical trials.