Molecular profiling and genetic markers enhance sarcoma diagnosis and prognosis
Sarcomas are rare and highly heterogeneous malignancies that frequently challenge differential diagnosis using conventional histology and immunohistochemistry. The review examines traditional and emerging molecular techniques for detecting genetic alterations across sarcoma subtypes. It outlines the diagnostic and prognostic utility of specific genetic markers and emphasizes the need for further mechanistic studies to refine targeted treatment strategies. The authors highlight how integrated molecular testing can overcome morphological limitations and improve clinical management of rare soft tissue and bone tumors.
The original study
Molecular events underlying sarcoma development and progression: the diagnostic relevance.
- Authors
- Wisniewska A, Sobczuk P, Rutkowski P
- Journal
- Expert review of molecular diagnostics
- Type
- Journal Article, Review
- PMID
- 42732081
Original abstract
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.