Desmoid Tumor Clinical Presentation

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD   more...
 
Updated: Apr 18, 2012
 

History

Although desmoid tumors can arise in any skeletal muscle, they most commonly develop in the anterior abdominal wall and shoulder girdle.

Retroperitoneal neoplasms are more common in familial polyposis coli and Gardner syndrome after abdominal surgery than in other conditions.[9]

Clusters of cases in families without evidence of any associated syndromes have also been reported.[10]

A history of trauma (often surgical) to the site of the desmoid tumor is elicited in 1 in 4 cases.[11]

Next

Physical

Peripheral desmoid tumors

Peripheral desmoid tumors are firm, smooth, and mobile. They often adhere to surrounding structures. The overlying skin is usually unaffected. The presence of such a soft tissue growth should alert the clinician to delve more deeply into the family history for evidence of familial polyposis coli and Gardner syndrome. Extra-abdominal desmoid tumors are rare and may be first evident as gradually increasing leg swelling.[12] Desmoid tumors may rarely appear on the foot.[13]

Intra-abdominal and extra-abdominal desmoid tumors

Intra-abdominal desmoid tumors may be seen. Extra-abdominal desmoid tumors may also be seen (rarely) in the urological system, including in the bladder and scrotum.[14] Intra-abdominal desmoid tumors remain asymptomatic until their growth and infiltration cause visceral compression. Symptoms of intestinal, vascular, ureteric, or neural involvement may be the initial manifestations. An ethmoidal desmoid tumor has been described in a pediatric patient.[15]

Breast desmoid tumors

Desmoid tumors account for 0.2% of primary breast tumors, developing from muscular fasciae and aponeuroses.[16] Desmoid tumors may mimic breast cancer.[17]

Previous
Next

Causes

The cause of desmoid tumors is uncertain and may be related to trauma or hormonal factors, or they may have a genetic association.

The familial polyposis gene on chromosome 5 has been extensively studied.[4, 18]

An endocrine etiology is suggested. Desmoid tumors most commonly appear in young women during or after pregnancy. The tumors regress during menopause[19] and after tamoxifen treatment.[20] Desmoid tumors may regress after exposure to oral contraceptives.[21]

The proliferative response of fibroblasts to estrogen has been established.[22]

Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Matthew J Trovato, MD  Fellow, Division of Plastic Surgery, University of Medicine and Dentistry of New Jersey, New Jersey Medical School

Disclosure: Nothing to disclose.

Peter C Lambert  Department of Chemistry, Wesleyan University

Disclosure: Nothing to disclose.

Specialty Editor Board

Neil Shear, MD  Professor and Chief of Dermatology, Professor of Medicine, Pediatrics and Pharmacology, University of Toronto Faculty of Medicine; Head of Dermatology, Sunnybrook Women's College Health Sciences Center and Women's College Hospital, Canada

Neil Shear, MD is a member of the following medical societies: American Academy of Dermatology, American Society for Clinical Pharmacology and Therapeutics, Canadian Dermatology Association, Canadian Medical Association, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD  Assistant Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, and Texas Dermatological Society

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

  1. Wu C, Amini-Nik S, Nadesan P, Stanford WL, Alman BA. Aggressive fibromatosis (desmoid tumor) is derived from mesenchymal progenitor cells. Cancer Res. Oct 1 2010;70(19):7690-8. [Medline].

  2. Brueckl WM, Ballhausen WG, Fortsch T, et al. Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma. Dis Colon Rectum. Jun 2005;48(6):1275-81. [Medline].

  3. Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. Dec 2004;53(12):1832-6. [Medline].

  4. Caspari R, Olschwang S, Friedl W, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. Mar 1995;4(3):337-40. [Medline].

  5. Wang WL, Nero C, Pappo A, Dina Lev DL, Lazar AJ, Lopez-Terrada DH. CTNNB1 Genotyping and APC Screening in Pediatric Desmoid Tumors: A Proposed Alogrithm. Pediatr Dev Pathol. Feb 28 2012;[Medline].

  6. Shields CJ, Winter DC, Kirwan WO, Redmond HP. Desmoid tumours. Eur J Surg Oncol. Dec 2001;27(8):701-6. [Medline].

  7. Klemmer S, Pascoe L, DeCosse J. Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet. Oct 1987;28(2):385-92. [Medline].

  8. Lee JC, Thomas JM, Phillips S, Fisher C, Moskovic E. Aggressive fibromatosis: MRI features with pathologic correlation. AJR Am J Roentgenol. Jan 2006;186(1):247-54. [Medline].

  9. Raynham WH, Louw JH. Desmoid tumours in familial polyposis of the colon. S Afr J Surg. Jul-Sep 1971;9(3):133-40. [Medline].

  10. Gaches C, Burke J. Desmoid tumour (fibroma of the abdominal wall) occurring in siblings. Br J Surg. Jul 1971;58(7):495-8. [Medline].

  11. Lopez R, Kemalyan N, Moseley HS, Dennis D, Vetto RM. Problems in diagnosis and management of desmoid tumors. Am J Surg. May 1990;159(5):450-3. [Medline].

  12. Agrawal PS, Jagtap SM, Mitra SR. Extra-abdominal desmoid tumour of the leg. Singapore Med J. Jan 2008;49(1):e6-7. [Medline].

  13. Macgill AA, Milione VR, Sullivan LG. Extra-abdominal desmoid fibromatosis in the foot: a case study. J Am Podiatr Med Assoc. Jan-Feb 2011;101(1):70-4. [Medline].

  14. Shi B, Zhu Y, Xu Z, Liu Y, Zheng B, Qi T. Aggressive fibromatosis in the urological system. Report of two adult patients and review of the literature. Urol Int. 2007;78(1):93-6. [Medline].

  15. Neri HA, Villagra EJ, Alvarez AC, et al. Ethmoidal desmoid tumor in a pediatric patient. Otolaryngol Head Neck Surg. Jan 2007;136(1):137-8. [Medline].

  16. Muller M, Dessogne P, Baron M, Picquenot JM, Riopel C, Diologent B, et al. [Desmoid tumor of the breast in a 9 years old little girl.]. Ann Pathol. Feb 2011;31(1):41-45. [Medline].

  17. Pajares B, Galera I, Ribelles N, Polo M. Insidious mastalgia hiding a desmoid tumour of the breast. Clin Transl Oncol. Jan 2010;12(1):63-5. [Medline].

  18. Gurbuz AK, Giardiello FM, Petersen GM, et al. Desmoid tumours in familial adenomatous polyposis. Gut. Mar 1994;35(3):377-81. [Medline].

  19. Lotfi AM, Dozois RR, Gordon H, et al. Mesenteric fibromatosis complicating familial adenomatous polyposis: predisposing factors and results of treatment. Int J Colorectal Dis. 1989;4(1):30-6. [Medline].

  20. Wilcken N, Tattersall MH. Endocrine therapy for desmoid tumors. Cancer. Sep 15 1991;68(6):1384-8. [Medline].

  21. Waddell WR. Treatment of intra-abdominal and abdominal wall desmoid tumors with drugs that affect the metabolism of cyclic 3',5'-adenosine monophosphate. Ann Surg. Mar 1975;181(3):299-302. [Medline].

  22. Dhingra K. Antiestrogens--tamoxifen, SERMs and beyond. Invest New Drugs. 1999;17(3):285-311. [Medline].

  23. Jakowski JD, Mayerson J, Wakely PE Jr. Fine-needle aspiration biopsy of the distal extremities: a study of 141 cases. Am J Clin Pathol. Feb 2010;133(2):224-31. [Medline].

  24. Buitendijk S, van de Ven CP, Dumans TG, et al. Pediatric aggressive fibromatosis: a retrospective analysis of 13 patients and review of literature. Cancer. Sep 1 2005;104(5):1090-9. [Medline].

  25. El-Haddad M, El-Sebaie M, Ahmad R, et al. Treatment of aggressive fibromatosis: the experience of a single institution. Clin Oncol (R Coll Radiol). Dec 2009;21(10):775-80. [Medline].

  26. Bhama PK, Chugh R, Baker LH, Doherty GM. Gardner's syndrome in a 40-year-old woman: successful treatment of locally aggressive desmoid tumors with cytotoxic chemotherapy. World J Surg Oncol. Dec 17 2006;4:96. [Medline].

  27. Constantinidou A, Jones RL, Scurr M, Al-Muderis O, Judson I. Advanced aggressive fibromatosis: Effective palliation with chemotherapy. Acta Oncol. Aug 30 2010;[Medline].

  28. Knechtel G, Stoeger H, Szkandera J, Dorr K, Beham A, Samonigg H. Desmoid tumor treated with polychemotherapy followed by imatinib: a case report and review of the literature. Case Rep Oncol. Aug 6 2010;3(2):287-93. [Medline].

  29. Colombo C, Foo WC, Whiting D, Young ED, Lusby K, Pollock RE, et al. FAP-related desmoid tumors: a series of 44 patients evaluated in a cancer referral center. Histol Histopathol. May 2012;27(5):641-9. [Medline].

  30. Ramirez RN, Otsuka NY, Apel DM, Bowen RE. Desmoid tumor in the pediatric population: a report of two cases. J Pediatr Orthop B. May 2009;18(3):141-4. [Medline].

  31. Bertani E, Chiappa A, Testori A, et al. Desmoid tumors of the anterior abdominal wall: results from a monocentric surgical experience and review of the literature. Ann Surg Oncol. Jun 2009;16(6):1642-9. [Medline].

  32. Mendenhall WM, Zlotecki RA, Morris CG, Hochwald SN, Scarborough MT. Aggressive fibromatosis. Am J Clin Oncol. Apr 2005;28(2):211-5. [Medline].

  33. Huang PW, Tzen CY. Prognostic factors in desmoid-type fibromatosis: a clinicopathological and immunohistochemical analysis of 46 cases. Pathology. Feb 2010;42(2):147-50. [Medline].

  34. Meazza C, Bisogno G, Gronchi A, Fiore M, Cecchetto G, Alaggio R, et al. Aggressive fibromatosis in children and adolescents: the Italian experience. Cancer. Jan 1 2010;116(1):233-40. [Medline].

  35. Quintini C, Ward G, Shatnawei A, Xhaja X, Hashimoto K, Steiger E, et al. Mortality of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis: a single center review of 154 patients. Ann Surg. Mar 2012;255(3):511-6. [Medline].

 
Previous
Next
 
Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Desmoid tumor spindle cells invading skeletal muscle (hematoxylin-eosin, original magnification X100).
Dermoid tumor spindle cells surrounding and destroying skeletal muscle cells (hematoxylin-eosin, original magnification X100)
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.