eMedicine Specialties > Dermatology > Benign Neoplasms

Desmoid Tumor

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Coauthor(s): Matthew J Trovato, MD, Fellow, Division of Plastic Surgery, University of Medicine and Dentistry of New Jersey, New Jersey Medical School; Peter C Lambert, Department of Chemistry, Wesleyan University
Contributor Information and Disclosures

Updated: Mar 10, 2010

Introduction

Background

Desmoid tumors are cytologically bland fibrous neoplasms originating from the musculoaponeurotic structures throughout the body. The term desmoid, coined by Muller in 1838, is derived from the Greek word desmos, which means tendonlike.

Desmoid tumors often appear as infiltrative, usually well-differentiated, firm overgrowths of fibrous tissue, and they are locally aggressive. The synonym aggressive fibromatosis describes the marked cellularity and aggressive local behavior. This course and the tendency for recurrence make the treatment of these relatively rare fibrous tumors challenging.

Pathophysiology

Although desmoid tumors most commonly arise from the rectus abdominis muscle in postpartum women and in scars due to abdominal surgery, they may arise in any skeletal muscle. Desmoid tumors tend to infiltrate adjacent muscle bundles, frequently entrapping them and causing their degeneration. Although fixation to musculoaponeurotic structures is apparent, the overlying skin is normal. The myofibroblast is the cell considered to be responsible for the development of desmoid tumors (see Procedures). 

Gardner syndrome or familial adenomatous polyposis (FAP) is characterized by colorectal adenomatous polyps and soft and hard tissue neoplasms. The former may number in the hundreds to thousands. Gardner syndrome was regarded as a separate disease until the identification of the APC (adenomatous polyposis coli) gene, at which point mutations in the APC gene were recognized as the underlying cause of both Gardner syndrome and FAP. Some authors regard Gardner syndrome as a subset of FAP, and some have even suggested that the term Gardner syndrome be replaced by FAP. Additionally, evidence also exists for a genetic predisposition to desmoid tumors in FAP, independent of the APC mutation.

Desmoid tumors occur at a rate of 10-15% in patients with FAP, an autosomal inherited disease caused by germline mutations in the APC gene. Sporadic forms have no hereditary background.1 Desmoid tumors show biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399).2,3 The relationship between extracolonic manifestations and the site of the APC mutation suggests a specific role of the APC protein in different tissues. However, unknown genetic factors independent of APC may be important in the susceptibility to desmoid tumors in patients with FAP.

In desmoid tumors, 1 of the 2 mutations usually occurs distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). Catenin and catenin-binding genes have been found to be associated with neoplastic processes in a number of ways. Independent predictors of increased desmoid risk in one study were said to be (1) germline mutation distal to codon 1399, (2) any family history of gastrointestinal disease, and (3) a strong family history of desmoid tumors.

The relationship between certain extracolonic manifestations and sites of the APC mutation suggests specific roles of the APC protein in different tissues. These different roles may correspond to specific sites of missense mutations in the APC gene. For example, dental manifestations of Gardner syndrome have been suggested to be associated with mutations at or near codon 1556. However, the influence of unknown genetic factors independent of APC in susceptibility to desmoid tumors in FAP needs to be explored.

FAP results from a germline mutation in the APC gene. Desmoid tumors are associated with a biallelic APC mutation in the affected tissue. This usually results from a spontaneous somatic mutation in the unaffected APC gene of a single cell in a patient with the FAP syndrome. This process is an example of the Knudsen "two hit" hypothesis, in which a tumor suppressor gene, such as APC, must be biallelically mutated in order for a specific type of tumor to occur.

In genetically normal individuals, with normal germline genes, this necessitates a rare combination of events, such that at least 2 somatic mutations must occur in both alleles of a single tumor suppressor gene, in this case the APC gene. In FAP syndrome patients, one APC germline gene is already mutated in every cell in the body (barring a rare reverse somatic mutation in some cells), and, therefore, only one new somatic mutation is required in the opposite APC gene for the tumor to develop.

FAP may be associated with mutations in the APC gene, but mutations in several other genes, particularly mismatch DNA repair genes, which are primarily responsible for ensuring integrity of polymerases responsible for DNA replication, may also result in familial colonic polyposis. These patients with familial colonic polyposis typically do not show other manifestations of Gardner syndrome. Conversely, extracolonic manifestations characteristic of Gardner syndrome may occur independent of intestinal polyps or a mutation in the APC gene.

Frequency

International

Overall, desmoid tumors are reported to account for 0.03% of all neoplasms.4 When present in patients with familial polyposis of the colon, the prevalence of desmoid tumors is as high as 13%.5

Mortality/Morbidity

Despite their benign histologic appearance and negligible metastatic potential, the tendency of desmoid tumors to cause local infiltration is significant in terms of (1) deformity, morbidity, and mortality resulting from pressure effects and (2) potential obstruction of vital structures and organs.

Sex

Desmoid tumors most commonly occur in women after childbirth. Desmoid tumors are twice as common in females than in males; however, 60 patients were described,6 and the female-to-male ratio was 1.2:1. In children, the sex incidence is equal.

Age

Although desmoid tumors are more common in persons aged 10-40 years than in others, they do occur in young children and older adults. Sixty patients were described by Lee et al in 2006, with an average age at diagnosis of 41.3 years.6

Clinical

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.7
  • Clusters of cases in families without evidence of any associated syndromes have also been reported.8
  • A history of trauma (often surgical) to the site of the desmoid tumor is elicited in 1 in 4 cases.9

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.10
  • 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.11
    • 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.12

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.3,13
  • An endocrine etiology is suggested.
    • Desmoid tumors most commonly appear in young women during or after pregnancy.
    • The tumors regress during menopause14 and after tamoxifen treatment.15
    • Desmoid tumors may regress after exposure to oral contraceptives.16
  • The proliferative response of fibroblasts to estrogen has been established.17

More on Desmoid Tumor

Overview: Desmoid Tumor
Differential Diagnoses & Workup: Desmoid Tumor
Treatment & Medication: Desmoid Tumor
Follow-up: Desmoid Tumor
Multimedia: Desmoid Tumor
References
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References

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Further Reading

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Keywords

desmoid tumors, desmoid tumor, musculoaponeurotic fibromatosis, aggressive fibromatosis, deep fibromatosis, nonmetastasizing fibrosarcoma, grade I fibrosarcoma

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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, UMDNJ-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.

Medical Editor

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.

Pharmacy Editor

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.

Managing Editor

Jeffrey Meffert, MD, Assistant Clinical Professor of Dermatology, University of Texas Health Science Center-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.

CME Editor

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

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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