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About Desmoid Tumors

Get the facts about these invasive growths
desmoid tumor tendril

The basics behind this rare disease

Desmoid tumors are locally aggressive, potentially morbid tumors of the soft tissues, with a tendency to infiltrate surrounding structures.1-3 Although they don’t metastasize, desmoid tumors are associated with local recurrence rates ranging from 24% to 77% after surgical resection.4,5,* 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-threatening.2,6,7

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

~30 % to 40%

of desmoid tumors are initially misdiagnosed1

Desmoid tumors may be misdiagnosed as:9-11,†

  • Hypertrophic or procedure-related scars
  • Keloid scars
  • Nodular fasciitis
  • Fibromas
  • Lipomas
  • Low-grade sarcomas
  • Gastrointestinal stromal tumor (GIST)
  • Nerve sheath tumor (schwannoma)
  • Smooth muscle tumor (leiomyoma)
Diagnostic Strategies

Data derived from an online survey of 130 oncologists and surgeons who treat desmoid tumors, conducted by SpringWorks Therapeutics between February and March 2022. Responses were collected from a comprehensive review of 361 desmoid tumor patient charts. Physicians (n=30) were asked to consider the primary diagnosis their patients with desmoid tumors initially received.9

Watch this video about desmoid tumor pathophysiology, management approaches, impact on patients, and more

The physical impact of desmoid tumors

The true borders of desmoid tumors may not be identifiable as they can infiltrate surrounding tissue, compressing muscles, nerves, and vessels.5,12 Patients may experience severe pain, limited function and mobility, and compromised quality of life.13,14
See desmoid tumor radiology and pathology

Calling desmoid tumors “benign” is misleading

Because they do not metastasize, desmoid tumors are sometimes described as “benign.”7,13 However, that description can understate the potential impact of desmoid tumors on patients’ daily lives. “Benign” can also suggest a manageable course of treatment, which may not be true for your patients.7

Information you need to know about desmoid tumors, diagnosis, and management.

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Desmoid tumor ICD-10 codes

There is currently no unique code for desmoid tumors. The ICD-10 code for desmoid tumors falls under D48.1, “neoplasm of uncertain behavior of connective and other soft tissue.” This code also includes many other connective and soft tissue disorders, which can lead to confusion.15

In July 2021, the Desmoid Tumor Research Foundation submitted a proposal to the Centers for Disease Control and Prevention’s ICD-10 Committee for a new desmoid tumor–specific code, including subcategories for tumor location, to improve research and patient care. This section will be updated if there is progress.16 Be sure to sign up here to stay informed.

Incidence and Risk Factors

There are approximately 1000 to 1650 annual cases in the United States17-19

Most patients are diagnosed between 20-44 years of age18

Female-to-male ratio is ~2-3:15,10,18

Recent pregnancy, injury, or surgery may increase risk20,21

Patients with familial adenomatous polyposis (FAP) have ~850-fold higher risk of developing desmoid tumors than the general population22

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.23 Desmoid tumors have been reported to occur in up to 16% of patients with FAP. Patients with FAP are at much higher risk of developing desmoid tumors than the general population.23

FAP-associated desmoid tumors are predominantly intra-abdominal (80%), usually within the mesentery.12 In addition, prior colectomy is associated with subsequent development of desmoid tumors, which represent a significant cause of morbidity in patients with FAP.23

Symptoms and Complications Related to Specific Tumor Sites

Symptomatology related to desmoid tumors varies based on where the tumors present.2,23 According to a prospective cohort study, tumors in the chest wall, upper limb, and head and neck were associated with poor outcomes.24

TUMOR SITE

EST. FREQUENCY12

COMMON SYMPTOMS AND COMPLICATIONS

Intra-abdominal(including mesentery)

20%

Compression may cause pain, cachexia, malaise, abdominal distention, or obstruction of the intestines or ureters12,25,26

Abdominal Wall

16%

Large tumors may cause tissue stretching, blood vessel compression, and bowel or bladder displacement27

Lower Extremities

16%

Limited mobility, pain, muscle stiffness, or deformity 12,28

Chest Wall

15%

Dyspnea, dysphagia, pleural invasion, rib or spinal involvement, bone erosion, and pain12,25,29,30

Upper Extremities

14%

Restricted mobility, muscle and ligament involvement, limb weakness, deformity, or pain12,31

Head and Neck

8%

Pain, neurologic deficit, proximity to vital structures, including mortality risk from vascular or airway restriction32

Other

11%

Symptoms and complications dependent on the location7,12,14

The location of desmoid tumors can significantly change the impact on quality of life.33 For example, a desmoid tumor with “tendril-like” growths that wrap around nerves may be associated with debilitating neuropathic pain.1,12

Burden of Disease

Physical burdens are just the beginning for patients

As desmoid tumors locally invade your patients’ bodies, the physical toll can feel almost impossible to escape, and is often magnified by psychological, emotional, social, and even professional burdens.1,2,13,34,35

See how deep and far-reaching of an impact these desmoid tumors and their “tendril-like” growths can have on the lives of patients.

Patients with desmoid tumors report a variety of physical and psychological burdens14

The pain severity and burden of disease can lead to anxiety and depression in many patients.13,14,36

Data from a Memorial Sloan Kettering/Desmoid Tumor Research Foundation patient-reported outcome (PRO) validation study. Patients with desmoid tumors (n=31, age range 20-68, 77% female) 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 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).14

Next: Diagnosis

  1. Kasper B, Baumgarten C, Garcia J, et al. Desmoid Working Group. An update on the management of sporadic desmoid-type fibromatosis: a European Consensus Initiative between Sarcoma Patients EuroNet (SPAEN) and European Organization for Research and Treatment of Cancer (EORTC)/Soft Tissue and Bone Sarcoma Group (STBSG). Ann Oncol. 2017;28(10):2399-2408. 
  2. Penel N, Chibon F, Salas S. Adult desmoid tumors: biology, management and ongoing trials. Curr Opin Oncol. 2017;29(4):268-274. 
  3. Sbaraglia M, Bellan E, Dei Tos AP. The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives. Pathologica. 2021;113(2):70-84.
  4. Easter DW, Halasz NA. Recent trends in the management of desmoid tumors. Summary of 19 cases and review of the literature. Ann Surg. 1989;210(6):765-769. 
  5. Skubitz KM. Biology and treatment of aggressive fibromatosis or desmoid tumor. Mayo Clin Proc. 2017;92(6):947-964. 
  6. Gronchi A, et al. Desmoid Tumor Working Group. The management of desmoid tumours: a joint global consensus-based guideline approach for adult and paediatric patients. Eur J Cancer. 2020;127:96-107.
  7. Joglekar SB, Rose PS, Sim F, Okuno S, Petersen I. Current perspectives on desmoid tumors: the Mayo Clinic approach. Cancers (Basel). 2011;3(3):3143-3155. 
  8. Crago AM, Denton B, Salas S, et al. A prognostic nomogram for prediction of recurrence in desmoid fibromatosis. Ann Surg. 2013;258(2):347-353.
  9. Data on file: SpringWorks Therapeutics.
  10. Penel N, Coindre JM, Bonvalot S, et al. Management of desmoid tumours: a nationwide survey of labelled reference centre networks in France. Eur J Cancer. 2016;58:90-96. 
  11. Huss S, Nehles J, Binot E, et al. β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013;62(2):294-304.
  12. Constantinidou A, Scurr M, Judson I, Litchman C. Clinical presentation of desmoid tumors. In: Litchman C, ed. Desmoid Tumors. Springer; 2012:chap 2. Accessed April 15, 2022. https://www.researchgate.net/publication/226455135. 
  13. Husson O, Younger E, Dunlop A, et al. Desmoid fibromatosis through the patients’ eyes: time to change the focus and organisation of care? Support Care Cancer. 2019;27(3):965-980. 
  14. Gounder MM, Maddux L, Paty J, Atkinson TM. Prospective development of a patient-reported outcomes instrument for desmoid tumors or aggressive fibromatosis. Cancer. 2020;126(3):531-539.
  15. ICD10Data.com. Accessed October 19, 2022. https://www.icd10data.com/ICD10CM/Codes/C00-D49/D37-D48/D48-/D48.1.
  16. The Desmoid Tumor Research Foundation. Diagnosis codes & desmoid tumors. Accessed May 1, 2022. https://dtrf.org/icd-codes-and-desmoid-tumors/#:~:text=Right%20now%2C%20desmoid%20tumors%20fall,encompasses%20dozens%20of%20different%20tumors.
  17. Orphanet Report Series. Prevalence and incidence of rare diseases: bibliographic data. Accessed April 28, 2022. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. 
  18. van Broekhoven DLM, Grünhagen DJ, den Bakker MA, van Dalen T, Verhoef C. Time trends in the incidence and treatment of extra-abdominal and abdominal aggressive fibromatosis: a population-based study. Ann Surg Oncol. 2015;22(9):2817-2823. 
  19. U.S. Department of Commerce. News Blog. U.S. population estimated at 332,403,650 on Jan. 1, 2022. Accessed April 28, 2022. https://www.commerce.gov/news/blog/2022/01/us-population-estimated-332403650-jan-1-2022#:~:
  20. Fiore M, Coppola S, Cannell AJ, et al. Desmoid-type fibromatosis and pregnancy: a multi-institutional analysis of recurrence and obstetric risk. Ann Surg. 2014;259(5):973-978. 
  21. Lopez R, Kemalyan N, Moseley HS, Dennis D, Vetto RM. Problems in diagnosis and management of desmoid tumors. Am J Surg. 1990;159(5):450-453. 
  22. Gurbuz AK, Giardiello FM, Petersen GM, et al. Desmoid tumours in familial adenomatous polyposis. Gut. 1994;35(3):377-381. 
  23. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Soft Tissue Sarcoma V.2.2022. © National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed May 23, 2022. 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.
  24. Penel N, Cesne AL, Bonvalot S, et al. Surgical versus non-surgical approach in primary desmoid-type fibromatosis patients: a nationwide prospective cohort from the French Sarcoma Group. Eur J Cancer. 2017;83:125-131.
  25. Shinagare AB, Ramaiya NH, Jagannathan JP, et al. A to Z of desmoid tumors. AJR Am J Roentgenol. 2011;197(6):W1008-W1014. 
  26. Tchangai BK, Tchaou M, Alassani F, et al. Giant abdominopelvic desmoid tumour herniated trough perineum: a case report. J Surg Case Rep. 2021;2021(8):rjab295. doi:10.1093/jscr/rjab295. 
  27. 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.
  28. McDonald ES, Yi ES, Wenger DE. Best cases from the AFIP: extraabdominal desmoid-type fibromatosis. Radiographics. 2008;28(3):901-906. 
  29. Abrão FC, Waisberg DR, Fernandez A, et al. Desmoid tumors of the chest wall: surgical challenges and possible risk factors. Clinics (Sao Paulo). 2011;66(4):705-708. 
  30. Xie Y, Xie K, Gou Q, He J, Zhong L, Wang Y. Recurrent desmoid tumor of the mediastinum: a case report. Oncol Lett. 2014;8(5):2276-2278. 
  31. Scaramussa FS, Castro UB. Desmoid tumor in hand: a case report. SM J Orthop. 2016;2(3):1036. 
  32. Baranov E, Hornick JL. Soft tissue special issue: fibroblastic and myofibroblastic neoplasms of the head and neck. Head Neck Pathol. 2020;14(1):43-58. 
  33. Ingley KM, Klein R, Theobalds N, et al. High prevalence of persistent emotional distress in desmoid tumor. Psycho-Oncology. 2020;29(2):311-320.
  34. Timbergen MJM, van de Poll-Franse LV, Grünhagen DJ, et al. Identification and assessment of health-related quality of life issues in patients with sporadic desmoid-type fibromatosis: a literature review and focus group study. Qual Life Res. 2018;27(12):3097-3111. 
  35. Mercier KA, Hernandez L, Boulanger V, et al; Desmoid Tumor Research Foundation; National Organization for Rare Disorders (NORD); Trio Health Analytics. Quality of life and tumor location in patients with desmoid tumors: data from the desmoid tumor research foundation natural history study. ASCO® Meeting Library. Accessed May 1, 2022. https://meetinglibrary.asco.org/record/173143/abstract.
  36. Paty J, Maddux L, Gounder MM. Prospective development of a patient reported outcomes (PRO) tool in desmoid tumors: a novel clinical trial endpoint. ASCO® Meeting Library. Accessed May 1, 2022. https://ascopubs.org/doi/10.1200/JCO.2017.35.15_suppl.11022.
  37. 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.