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,*
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
“There is a risk of desmoid tumors arising from surgical trauma. Potential recurrence along with poor patient outcomes are points for a surgeon to consider.”Dr. Randall, MD, FACS Orthopedic Surgeon
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
Watch this video about desmoid tumor pathophysiology, management approaches, impact on patients, and more
New ICD-10-CM codes for desmoid tumors
New, location-specific ICD-10-CM codes for desmoid tumors, effective October 1, 2023.18 The availability of the new codes help enable healthcare providers to more appropriately document diagnoses of patients with desmoid tumors and may help improve patient care.
Effective October 1, 2023: NEW ICD-10-CM CODES for desmoid tumors.18 These location-specific diagnosis codes can be incorporated into your clinical practice.
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,† In order to help improve patient outcomes, healthcare providers should assess for progression as early as possible with at least one of the following:
- Tumor growth documented by MRI or CT4,23,24
See desmoid tumor radiology and pathology
- Worsening of symptoms4,23,24
- Worsening impact on daily living (eg, functional impairment)4,23,24
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
Learn about treatment options after early identification of desmoid tumor progression.
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 patients’ lives 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 Read more about FAP
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
COMMON SYMPTOMS AND COMPLICATIONS
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 woman 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.
Large tumors may cause tissue stretching, blood vessel compression, and bowel or bladder displacement41
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 woman aged 40 years. The heterogeneous masses are infiltrating the calf region posteromedially.
Dyspnea, dysphagia, pleural invasion, rib or spinal involvement, bone erosion, and pain26,38,43,44
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 man aged 22 years.
Head and Neck
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 woman aged 52 years. The tumor is extending into the vertebral body (arrowhead).
Symptoms and complications dependent on the location5,26,27
CT, computed tomography; ICD-10-CM, International Classification of Diseases, Tenth Revision, Clinical Modification; MRI, magnetic resonance imaging; RECIST, Response Evaluation Criteria in Solid Tumors.
- 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.
- Penel N, Chibon F, Salas S. Adult desmoid tumors: biology, management and ongoing trials. Curr Opin Oncol. 2017;29(4):268-274.
- Sbaraglia M, Bellan E, Dei Tos AP. The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives. Pathologica. 2021;113(2):70-84.
- 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.
- 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.
- 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.
- Skubitz KM. Biology and treatment of aggressive fibromatosis or desmoid tumor. Mayo Clin Proc. 2017;92(6):947-964.
- 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.
- Peng PD, Hyder O, Mavros MN, et al. Management and recurrence patterns of desmoids tumors: a multi-institutional analysis of 211 patients. Ann Surg Oncol. 2012;19(13):4036-4042.
- Janssen ML, van Broekhoven DL, Cates JM, et al. Meta-analysis of the influence of surgical margin and adjuvant radiotherapy on local recurrence after resection of sporadic desmoid-type fibromatosis. Br J Surg. 2017;104(4):347-357.
- Nuyttens JJ, Rust PF, Thomas CR Jr, Turrisi AT 3rd. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer. 2000;88(7):1517-1523.
- Ballo MT, Zagars GK, Pollack A, et al. Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy, or combined surgery and radiation therapy. J Clin Oncol. 1999;17(1):158-167.
- Tsagozis P, Stevenson JD, Grimer R, Carter S. Outcome of surgery for primary and recurrent desmoid-type fibromatosis. A retrospective case series of 174 patients. Ann Med Surg (Lond). 2017;17:14-19.
- Bonvalot S, Desai A, Coppola S, et al. The treatment of desmoid tumors: a stepwise clinical approach. Ann Oncol. 2012;23(suppl 10):x158-x166.
- 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.
- 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.
- Cheon SS, Nadesan P, Poon R, Alman BA. Growth factors regulate beta-catenin-mediated TCF-dependent transcriptional activation in fibroblasts during the proliferative phase of wound healing. Exp Cell Res. 2004;293(2):267-274.
- Centers for Medicare & Medicaid Services 2024 ICD-10-CM codes. Centers for Medicare & Medicaid Services Web Site. Accessed August 16, 2023. https://www.cms.gov/medicare/coding-billing/icd-10-codes/2024-icd-10-cm.
- Cuomo P, Scoccianti G, Schiavo A, et al. Extra-abdominal desmoid tumor fibromatosis: a multicenter EMSOS study. BMC Cancer. 2021;21(1):437.
- Penel N, Bonvalot S, Le Deley MC, et al. Pain in desmoid-type fibromatosis: prevalence, determinants and prognosis value. Int J Cancer. 2023;153(2):407-416.
- Quintini C, Ward G, Shatnawei A, et al. Mortality of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis: a single center review of 154 patients. Ann Surg. 2012;255(3):511-516.
- Cassidy MR, Lefkowitz RA, Long N, et al. Association of MRI T2 signal intensity with desmoid tumor progression during active observation: a retrospective cohort study. Ann Surg. 2020;271(4):748-755.
- Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Soft Tissue Sarcoma V.2.2023. © National Comprehensive Cancer Network, Inc. 2023. All rights reserved. Accessed August 2, 2023. 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.
- 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 [supplementary appendix]. Eur J Cancer. 2020;127:96-107.
- 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.
- Constantinidou A, Scurr M, Judson I, Litchman C. Clinical presentation of desmoid tumors. In: Litchman C, ed. Desmoid Tumors. Springer; 2012:chap 2. Accessed August 2, 2023. https://www.researchgate.net/publication/226455135.
- 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.
- 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.
- 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 August 2, 2023. https://meetinglibrary.asco.org/record/173143/abstract.
- 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 August 2, 2023. https://ascopubs.org/doi/10.1200/JCO.2017.35.15_suppl.11022.
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- 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.
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