Molecular Pathology of Soft-tissue Neoplasms

Area of Science:

• Oncology
• Pathology
• Genetics

Background:

• Soft-tissue tumors are rare mesenchymal neoplasms with significant heterogeneity.
• Traditional diagnosis relies on morphology, often insufficient for precise classification.

Purpose of the Study:

• To highlight the transformative impact of molecular pathology on soft-tissue tumor diagnosis and management.
• To discuss how genomic alterations define tumor subtypes and guide targeted therapies.

Main Methods:

• Review of advances in molecular pathology techniques.
• Analysis of recurrent genomic alterations (gene fusions, mutations, amplifications, epigenetic changes).
• Integration of data from fluorescence in situ hybridization, next-generation sequencing, and methylation-based sequencing.

Main Results:

• Molecular profiling precisely characterizes soft-tissue tumor subtypes.
• Genomic alterations serve as biomarkers for targeted therapy selection.
• Emerging technologies like circulating biomarkers and AI show promise.

Conclusions:

• Molecular pathology is crucial for accurate diagnosis, prognosis, and predicting treatment response in soft-tissue tumors.
• Continued integration of molecular and genomic data will refine patient care.
• Future advancements will further enhance the role of molecular pathology in managing these rare neoplasms.