Desmoid tumor
Encyclopedia
Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors, which are benign, slow-growing tumors without any metastatic
potential. However, Aggressive Fibromatosis is locally aggressive. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Most cases are sporadic, but some are associated with familial adenomatous polyposis
(FAP). Approximately 10% of individuals with Gardner's syndrome
, a type of FAP with extracolonic features, have desmoid tumors.
Histologically they resemble low-grade
fibrosarcoma
s, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery.
Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
, or intra-abdominal (the last is more common in patients with FAP). It is thought that the lesions may develop in relation to estrogen
levels or trauma
/operations
.
A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients.FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.
removal, amputation of infected limb, radiation therapy
, antiestrogen
s and NSAIDs
, or chemotherapy
.
Current experimental studies are being done with Gleevec (Imatinib
) for treatment of Desmoid tumors, and show promising success rates.
Metastasis
Metastasis, or metastatic disease , is the spread of a disease from one organ or part to another non-adjacent organ or part. It was previously thought that only malignant tumor cells and infections have the capacity to metastasize; however, this is being reconsidered due to new research...
potential. However, Aggressive Fibromatosis is locally aggressive. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Most cases are sporadic, but some are associated with familial adenomatous polyposis
Familial adenomatous polyposis
Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
(FAP). Approximately 10% of individuals with Gardner's syndrome
Gardner's syndrome
Gardner syndrome, also known as familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon...
, a type of FAP with extracolonic features, have desmoid tumors.
Histologically they resemble low-grade
Grading (tumors)
In pathology, grading is a measure of the cell appearance in tumors and other neoplasms. Some pathology grading systems apply only to malignant neoplasms ; others apply also to benign neoplasms. The neoplastic grading is a measure of cell anaplasia in the sampled tumors arising from the...
fibrosarcoma
Fibrosarcoma
Fibrosarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.Usually in males ages 30 to 40. Originates in fibrous tissues of the bone. Invades long or flat bones such as femur, tibia,...
s, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery.
Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
Classification
Desmoid tumors may be classified as extra-abdominal, abdominal wallLayers of the abdominal wall
The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior , lateral and anterior walls....
, or intra-abdominal (the last is more common in patients with FAP). It is thought that the lesions may develop in relation to estrogen
Estrogen
Estrogens , oestrogens , or œstrogens, are a group of compounds named for their importance in the estrous cycle of humans and other animals. They are the primary female sex hormones. Natural estrogens are steroid hormones, while some synthetic ones are non-steroidal...
levels or trauma
Physical trauma
Trauma refers to "a body wound or shock produced by sudden physical injury, as from violence or accident." It can also be described as "a physical wound or injury, such as a fracture or blow." Major trauma can result in secondary complications such as circulatory shock, respiratory failure and death...
/operations
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
.
A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients.FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.
Treatment
Treatment may consist of watching and waiting, complete surgicalSurgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
removal, amputation of infected limb, radiation therapy
Radiation therapy
Radiation therapy , radiation oncology, or radiotherapy , sometimes abbreviated to XRT or DXT, is the medical use of ionizing radiation, generally as part of cancer treatment to control malignant cells.Radiation therapy is commonly applied to the cancerous tumor because of its ability to control...
, antiestrogen
Antiestrogen
An antiestrogen is a substance that blocks the production or utilization of estrogens, or inhibits their effects....
s and NSAIDs
Non-steroidal anti-inflammatory drug
Nonsteroidal anti-inflammatory drugs, usually abbreviated to NSAIDs or NAIDs, but also referred to as nonsteroidal anti-inflammatory agents/analgesics or nonsteroidal Anti-inflammatory medicines , are drugs with analgesic and antipyretic effects and which have, in higher doses, anti-inflammatory...
, or chemotherapy
Chemotherapy
Chemotherapy is the treatment of cancer with an antineoplastic drug or with a combination of such drugs into a standardized treatment regimen....
.
Current experimental studies are being done with Gleevec (Imatinib
Imatinib
Imatinib is a drug used to treat certain types of cancer. It is currently marketed by Novartis as Gleevec or Glivec as its mesylate salt, imatinib mesilate . It is used in treating chronic myelogenous leukemia , gastrointestinal stromal tumors and some other diseases...
) for treatment of Desmoid tumors, and show promising success rates.
External links
- Aggressive (Desmoid) Fibromatosis: A Problem for the Sarcoma Team by Randall Burt, MD and David Viskochil, MD, PhD