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About Desmoid Tumors

desmoid tumor tendril

Patients with desmoid tumors seek both disease control and symptom improvement

  • Desmoid tumors are locally aggressive, potentially morbid tumors of the soft tissues, with a tendency to infiltrate surrounding structures1-3
  • Sometimes referred to as aggressive fibromatosis or desmoid fibromatosis, these mesenchymal tumors can be serious, debilitating and, in rare cases when vital organs are impacted, they can be life-threatening2,4,5
  • Although they do not metastasize, desmoid tumors are associated with local recurrence rates ranging from 24% to 77% after surgical resection, regardless of margin status6,7,*
    • Desmoid tumor recurrence risk remains high even with clean margins: various independent studies report desmoid tumor recurrence rates after complete surgical resection of 15% to 30%.8-11 Some studies suggest that the majority of tumors recur within 5 years8,9,12

Learn about surgery considerations

Based on retrospective, observational data. Factors associated with local recurrence postsurgery include tumor location, age of the participant, tumor size, margin status, and prior recurrence.8,13

Pathogenesis of desmoid tumors

  • The pathogenesis of desmoid tumors is thought to be linked to dysregulated wound healing after trauma, such as childbirth, injury, or invasive surgery7,14-16
  • Growth factors released during wound healing that promote beta-catenin activation may lead to recurrence of desmoid tumors14,17

Hear from a medical oncologist

Understanding Desmoid Tumors

Watch Dr. Riedel, medical oncologist from Duke Health and Duke Cancer Institute, provide an overview of desmoid tumors, including pathophysiology, clinical presentations, and impact on patients.

ICD-10-CM codes for desmoid tumors

Location-specific ICD-10-CM codes for desmoid tumors went into effect on October 1, 2023.18 The codes help enable healthcare providers to appropriately document diagnoses of patients with desmoid tumors and may help improve patient care.

Location-specific ICD-10-CM diagnosis codes for desmoid tumors can be incorporated into your clinical practice.

Download ICD-10-CM Codes

Knowing how to identify desmoid tumor progression can lead to timely initiation of appropriate treatment

Progression can be symptomatic and/or radiographic. Symptomatic progression may precede radiographic progression.19 In fact, evidence of pain can be a prognostic indicator of progression and can be associated with worse outcomes.19-21

In a study conducted at Memorial Sloan Kettering Cancer Center, 58% of patients with desmoid tumors converted from active surveillance to first-line treatment without radiographic tumor progression.22,†

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) recommendations for initiating treatment:23,‡,§

  • Threatening to function or quality of life
  • Life-threatening
  • Persistent tumor growth

Learn about treatment options after early identification of desmoid tumor progression.

Management Options

Primary or recurrent desmoid tumor patients (n=160) were identified retrospectively from an institutional database. Among the patients on initial observation for whom serial MRIs were available, there were 14 of 24 (58%) who underwent active treatment that did not experience tumor growth as defined by RECIST criteria.22

A course of ongoing observation is an appropriate option even for patients with disease progression, if the patient is minimally symptomatic and the anatomical location of the tumor is not critical. For tumors that are symptomatic, or impairing or threatening in function, patients should be offered therapy with the decision based on the location of the tumor and potential morbidity of the therapeutic option.23

The National Comprehensive Cancer Network® (NCCN®) is a not-for-profit alliance of 33 leading cancer centers devoted to patient care, research, and education. The development of the NCCN Guidelines® is an ongoing and iterative process based on a critical review of the best available evidence and derivation of recommendations by a multidisciplinary panel of experts in the field of cancer.23

The Desmoid Tumor Working Group (DTWG) consists of more than 90 sarcoma experts, patients, and patient advocates from around the world. The DTWG includes representatives from all disciplines involved in the management of desmoid tumors, including pathology, molecular biology, radiology, orthopedic surgery, surgical oncology, radiotherapy, medical oncology, and supportive care.24

Tumor size increase at >2 consecutive follow-up appointments; threatening quality of life, life, or function; or posing a potential risk to the feasibility or effectiveness of first-line treatment.24

Burden of Disease

Calling desmoid tumors “benign” is misleading

  • Because of their histology and inability to metastasize, desmoid tumors are sometimes described as “benign.”5,25 However, that description can understate their potential impact on patients’ daily lives
  • “Benign” can also suggest a manageable course of treatment, which may not be true for your patients5
  • The true borders of desmoid tumors may not be identifiable as they can infiltrate surrounding tissue, compressing muscles, nerves, and vessels, and complicating attempts to obtain clean margins without leading to morbidity7,14,26
    See images of tumor specimens post-resection
  • Patients may experience severe pain, limited function and mobility, and compromised quality of life25,27
  • As desmoid tumors locally invade the bodies of patients, the physical toll can feel almost impossible to escape, and is often magnified by psychological, emotional, social, and even professional burdens25,28,29

“Let’s describe this disease as it actually is. Because it isn’t benign. It doesn’t metastasize. But it is life altering. It’s life changing.”

DeAnn, a real person living with a desmoid tumor

See how desmoid tumors may infiltrate the lives of patients in the video below

Patients with desmoid tumors report a variety of physical and psychological burdens27

In many patients, pain severity and burden of disease can lead to anxiety and depression.25,27,30

Data from a Memorial Sloan Kettering/Desmoid Tumor Research Foundation patient-reported outcome (PRO) validation study included patients with desmoid tumors (n=31, age range 20-68, 77% female). Patients participated in 60-minute qualitative phone interviews to provide their perspectives on disease symptoms and impact on their quality of life. The majority of the patients in this study were symptomatic (84%). Tumor site and type varied across patients. The concepts discussed during interviews were used to develop a draft patient-reported outcome scale, which was further refined in cognitive interviews of additional patients with desmoid tumors (n=15).27

Incidence and Risk Factors

There are approximately 1000 to 1650 annual cases in the United States31-33

Most patients are diagnosed between 20-44 years of age32

Female-to-male ratio is ~2-3:17,32,34

Recent pregnancy, injury, or surgery may increase risk15,16

Patients with familial adenomatous polyposis (FAP) have ~850-fold higher risk of developing desmoid tumors than the general population35

FAP is associated with desmoid tumors

Familial adenomatous polyposis (FAP) is an inherited syndrome resulting from germline mutations in the APC gene. FAP is linked to colorectal polyps that can lead to colorectal cancer.26 Desmoid tumors have been reported to occur in 10% to 12% of patients with FAP.2,35,36 Patients with FAP are at much higher risk of developing desmoid tumors than the general population.26

FAP-associated desmoid tumors are predominantly intra-abdominal (80%), usually within the mesentery. In addition, prior colectomy is associated with subsequent development of desmoid tumors, which represent a significant cause of morbidity in patients with FAP.2,26

Symptoms and Complications Related to Specific Tumor Sites

Symptomatology related to desmoid tumors varies based on the location of tumor presentation.1 According to a prospective cohort study, tumors in the chest wall, upper limb, and head and neck were associated with poor outcomes following surgery.37

Learn more about desmoid tumor management

TUMOR SITE

EST. FREQUENCY26

COMMON SYMPTOMS AND COMPLICATIONS

Intra-abdominal(including mesentery)

20%

Compression may cause pain, cachexia, malaise, abdominal distention, or obstruction of the intestines or ureters26,38,39

Intra-abdominal desmoid tumor40
This contrast-enhanced CT scan shows an unresectable, sporadic, mesenteric desmoid tumor (white arrow) in a female patient aged 30 years. The desmoid tumor is surrounding the superior mesenteric vessels (white arrowhead). The tumor’s multiple tendrils are threatening the bowel. After 3 months of observation, the patient presented with a bowel obstruction.

Image adapted with permission from Braschi-Amirfarzan M, Keralyiga AR, Krajewski KM, et al. Role of imaging in management of desmoid-type fibromatosis: a primer for radiologists. Radiographics. 2016;36(3):767-782. False color added. ©RSNA

Abdominal Wall

16%

Large tumors may cause tissue stretching, blood vessel compression, and bowel or bladder displacement41

Lower Extremities

16%

Limited mobility, pain, muscle stiffness, or deformity 26,42

Multifocal desmoid tumors in the leg40
This T1-weighted MRI shows multiple, unresectable, sporadic desmoid tumors (white arrows) in the right leg of a female patient aged 40 years. The heterogeneous masses are infiltrating the calf region posteromedially.

Image adapted with permission from Braschi-Amirfarzan M, Keralyiga AR, Krajewski KM, et al. Role of imaging in management of desmoid-type fibromatosis: a primer for radiologists. Radiographics. 2016;36(3):767-782. False color added. ©RSNA

Chest Wall

15%

Dyspnea, dysphagia, pleural invasion, rib or spinal involvement, bone erosion, and pain26,38,43,44

Upper Extremities

14%

Restricted mobility, muscle and ligament involvement, limb weakness, deformity, or pain26,45

Desmoid tumor in the upper arm40

This contrast-enhanced T1-weighted MRI shows an unresectable, sporadic desmoid tumor (white arrow) in the right triceps region in a male patient aged 22 years.

Image adapted with permission from Braschi-Amirfarzan M, Keralyiga AR, Krajewski KM, et al. Role of imaging in management of desmoid-type fibromatosis: a primer for radiologists. Radiographics. 2016;36(3):767-782. False color added. ©RSNA

Head and Neck

8%

Pain, neurologic deficit, proximity to vital structures, including mortality risk from vascular or airway restriction46

Desmoid tumor in the neck40

This T1-weighted MRI shows a recurrent desmoid tumor (white arrow) in the lower neck and throat of a female patient aged 52 years. The tumor is extending into the vertebral body (arrowhead).

Image adapted with permission from Braschi-Amirfarzan M, Keralyiga AR, Krajewski KM, et al. Role of imaging in management of desmoid-type fibromatosis: a primer for radiologists. Radiographics. 2016;36(3):767-782. False color added. ©RSNA

Other

11%

Symptoms and complications dependent on the location5,26,27

The location of desmoid tumors can significantly affect quality of life.47 For example, a desmoid tumor with “tendril-like” growths that wrap around nerves may be associated with debilitating neuropathic pain.1,26

Next: Management

CT, computed tomography; FDA, US Food and Drug Administration; ICD-10-CM, International Classification of Diseases, Tenth Revision, Clinical Modification; MRI, magnetic resonance imaging; NCCN, National Comprehensive Cancer Network® (NCCN®); RECIST, Response Evaluation Criteria in Solid Tumors.

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  2. Penel N, Chibon F, Salas S. Adult desmoid tumors: biology, management and ongoing trials. Curr Opin Oncol. 2017;29(4):268-274. 
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  23. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Soft Tissue Sarcoma V.2.2024. © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed August 9, 2024. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
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  40. Braschi-Amirfarzan M, Keraliya AR, Krajewski KM, et al. Role of imaging in management of desmoid-type fibromatosis: a primer for radiologists. Radiographics. 2016;36(3):767-782.
  41. Koshariya M, Shukla S, Khan Z, et al. Giant desmoid tumor of the anterior abdominal wall in a young female: a case report. Case Rep Surg. 2013;2013:780862.
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