Desmoid Tumors: A Comprehensive Review.

Area of Science:

• Oncology
• Rare Diseases
• Clinical Research

Background:

• Desmoid tumors (DT) are rare, aggressive fibroblastic neoplasms.
• DT infiltrative growth causes substantial clinical burden and impacts quality of life.
• Limited disease awareness due to low incidence (3-5 per million person-years).

Purpose of the Study:

• To review and synthesize the current understanding of the burden of illness associated with desmoid tumors.
• To highlight diagnostic challenges, symptom burden, and quality of life impacts.
• To identify unmet needs in DT management.

Main Methods:

• Systematic literature search of PubMed, Embase, Cochrane, and key conferences (November 2021 - March 2023).
• Inclusion of 96 relevant publications from an initial 651 identified.
• Analysis focused on diagnosis, symptoms, quality of life, and treatment options.

Main Results:

• Diagnosis is challenging due to heterogeneity and variable presentation, leading to delays.
• High symptom burden reported: 63% experience chronic pain, impacting sleep, mood, and function.
• Quality of life is significantly lower than in healthy populations.

Conclusions:

• The substantial burden of desmoid tumors stems from diagnostic difficulties, high symptom burden, and reduced quality of life.
• Current treatment options lack specific FDA approval for DT.
• There is a high unmet need for novel, targeted therapies to improve patient outcomes and quality of life.