Desmoid Tumors Epidemiology

• Desmoid tumors are rare, soft-tissue tumors that can cause debilitating pain, deformity, and even life-threatening organ damage to patients with an estimated annual incidence of 2 to 6 cases per million people, which translates to approximately 1,810 incident cases in the United States in 2024. They account for about 0.03% of all tumors, particularly affecting women at a ratio of 2:1 compared to men. 
• The total mortality adjusted 10-year prevalent cases of desmoid tumors in the United States were ~16,600 in 2024.
• The total incident cases of desmoid tumors in the 7MM were ~3,480 in 2024, out of which the highest incident cases of this disease were in the United States.
• The mutation-specific cases of desmoid tumors in the 7MM were majorly contributed by CTNNB1 gene mutation with almost 28,970 cases, compared to APC gene mutation with ~3,000 cases in 2024.
• Desmoid tumor is a type of tumor with a higher and increasing prevalence reported in women compared to men.

DelveInsight’s “Desmoid Tumors – Epidemiology Forecast – 2034” report delivers an in-depth understanding of SUI, and historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2021-2034

Desmoid Tumors Disease Understanding

Desmoid Tumors Overview

Desmoid tumors are rare mesenchymal neoplasms, occurring in 2 to 6 cases per million, characterized by local invasiveness but no metastatic potential. They arise from fibroblast cells in connective tissue, playing a key role in wound healing and structural support. Also called "aggressive fibromatosis," these tumors primarily affect younger individuals and are often associated with APC gene mutations, particularly in those with familial adenomatous polyposis (FAP). Although not metastatic, desmoid tumors can cause significant morbidity due to their local invasiveness, pain, and difficulty in surgical removal.

Desmoid tumors are more common in FAP, especially in abdominal cases caused by APC mutations. They often develop at sites of previous surgery, with prior surgery being a known risk factor. In patients undergoing prophylactic colectomy, desmoid tumors contribute more to morbidity and mortality than colon cancer. They are also more frequent in females during or after pregnancy, with abdominal trauma and elevated estrogen levels suggested as contributing factors. Pregnancy-related desmoid tumors generally have better outcomes.

Desmoid Tumors Diagnosis

Desmoid tumors may be misdiagnosed in 30%–40% of cases, with a study showing a 54% delay of over a year in diagnosis. Proper diagnosis is crucial but challenging. A multidisciplinary team, including oncologists, radiologists, and geneticists, is recommended for evaluation. Symptoms vary by location: extremity tumors may cause pain and limited motion, while intra-abdominal desmoids may lead to weight loss, cachexia, and malaise. Both sporadic and FAP-related desmoid tumors affect quality of life.

MRI is the preferred imaging method, showing moderate to strong gadolinium enhancement and a band sign. CT scans help diagnose abdominal wall and intra-abdominal tumors, while ultrasound is useful for extremity or abdominal wall tumors. PET-CT may differentiate recurrent cancer from desmoid tumors in FAP patients. 

Histologically, desmoid tumors are firm, white or gray, resembling scar tissue. Biopsy analysis by an expert is needed to distinguish them from other neoplasms. Immunohistochemistry shows β-catenin positivity and other markers, with mutations in CTNNB1 or APC characteristic of desmoid tumors. CTNNB1 mutations exclude FAP, while APC mutations exclude sporadic desmoid tumors.

Desmoid Tumors Epidemiology

The desmoid tumors epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the Incident cases of desmoid tumors, 10-year (mortality adjusted) prevalent cases of desmoid tumors, Mutation-specific cases of desmoid tumors, Gender-specific cases of desmoid tumors, and Tumor site-specific cases of desmoid tumors in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

• Desmoid tumors account for <3% of soft tissue tumors. Their annual incidence is estimated to range between 1/250,000–1/500,000.
• In EU4 and the UK, the 10-year prevalent cases of desmoid tumors were ~4,600 cases in males and ~8,460 cases in females in 2024.
• Extra-abdominal cases were almost three time more than intra-abdominal cases for the year 2024, in Japan.
• More than 90% of cases of desmoid tumors are sporadic and associated with a mutation in the β-catenin gene (CTNNB1). A minority of desmoid tumors are diagnosed in patients with germline APC mutation, which manifests as FAP.
• Patients with desmoid tumors face many challenges, including delayed diagnosis or misdiagnosis due to lack of awareness by patients and providers; unpredictable disease course

Desmoid Tumors Report Insights

• Patient Population
• Country-wise Epidemiology Distribution

Desmoid Tumors Report Key Strengths

• Ten Years Forecast
• 7MM Coverage 
• Desmoid Tumors  Epidemiology Segmentation

FAQs

• What is the historical desmoid tumors patient pool in the United States, EU4 (Germany, France, Italy, and Spain), and the UK, and Japan?
• What will be the growth opportunities across the 7MM concerning the patient population of desmoid tumor?

Reasons to buy

• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand key opinion leaders’ perspectives around the diagnostic challenges to overcome barriers in the future.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.