Familial Adenomatous Polyposis and Desmoid Tumors | oneFAPvoice

welcome to oneFAPvoice

- a positively charged Familial Adenomatous Polyposis community.
  • join today!
scientific articles

Familial Adenomatous Polyposis and Desmoid Tumors

key information

source: Clinics (Sao Paulo, Brazil)

year: 2011

authors: Righetti AE, Jacomini C, Parra RS, de Almeida AL, Rocha JJ, Féres O.


Familial adenomatous polyposis (FAP) is a hereditary condition transmitted in an autosomal dominant fashion, which is characterized by the appearance of numerous adenomatous polyps in the colon. This condition results from mutation of the APC gene and accounts for 1% of cases of colorectal cancer.1

FAP is frequently associated with extracolonic manifestations: desmoid tumors, osteomas, pigmented lesions of the retina, adenomas of the upper gastrointestinal tract, and epidermoid cysts, as well as gastric, thyroid, suprarenal, and central nervous system cancer.2

The desmoid tumor (DT) is a benign neoplasm that occurs in 10%–20% of the patients with FAP. It originates from fascial or muscle-aponeurotic structures that foster fibroblast proliferation. DTs occur more frequently in the intra-abdominal region or the abdominal wall, although they can also be detected in extra-abdominal areas. It is a rare type of tumor, representing 0.03% of neoplasms. Compared with the general population, a patient with FAP is at an 852-fold increased risk of developing a DT.3

Although benign from a histological viewpoint, a DT can display aggressive biological behavior characterized by infiltrative growth and a high recurrence rate after resection. DTs represent the second most common cause of death in patients with FAP.

organization: School of Medicine, University of São Paulo

DOI: 10.1590/S1807-59322011001000027

read more

To improve your experience on this site, we use cookies. This includes cookies essential for the basic functioning of our website, cookies for analytics purposes, and cookies enabling us to personalize site content. By clicking on 'Accept' or any content on this site, you agree that cookies can be placed. You may adjust your browser's cookie settings to suit your preferences.
More information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.