Update on desmoid tumors.

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• Desmoid tumors (DTs) are rare neoplasms characterized by local aggressiveness despite benign histology.
• DTs account for 0.03% of all neoplasms and can be associated with Gardner syndrome (familial adenomatous polyposis gene mutations) or spontaneous beta-catenin gene mutations.
• Beta-catenin gene mutations activate Wnt/catenin signaling, contributing to DT development.

Purpose of the Study:

• To review the current understanding of desmoid tumor diagnosis, pathogenesis, and treatment options.
• To highlight the variable clinical presentation and behavior of DTs, necessitating tailored management strategies.
• To discuss emerging targeted therapies, such as tyrosine kinase inhibitors, for DT management.

Main Methods:

• Review of existing literature on desmoid tumors.
• Analysis of diagnostic criteria and histopathological features.
• Evaluation of current and emerging treatment modalities, including surgery and targeted therapy.

Main Results:

• No single standard approach is recommended for DTs due to their variable presentation.
• Surgical extirpation is often indicated for extremity DTs.
• Multimodal and multidisciplinary treatment concepts are crucial for managing many DT cases.

Conclusions:

• Desmoid tumors require individualized treatment strategies based on clinical presentation and behavior.
• Understanding the underlying genetic mutations, particularly beta-catenin activation, is key to pathogenesis.
• Targeted therapies, including tyrosine kinase inhibitors, represent a promising avenue for DT management.