Aggressive fibromatosis

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Aggressive fibromatosis
DesmoidTumorCTCorMark.png
Desmoid tumor as seen on CT scan
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Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. Desmoid tumors arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. These tumors tend to occur in women in their thirties, but can occur in anyone at any age. They can be either relatively slow-growing or malignant. However, aggressive fibromatosis is locally aggressive and can cause life-threatening problems or even death when they compress vital organs such as intestines, kidneys, lungs, blood vessels, or nerves. 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. [1]

Contents

Histologically they resemble very low-grade fibrosarcomas, [2] 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. [3]

Risk factor

Risk factors for desmoid disease amongst FAP patients include female sex, a 3' APC mutation, a positive family history, and a history of previous abdominal surgery. [4]

Diagnosis

Classification

Desmoid tumor DesmoidTumorCTMarked.png
Desmoid tumor
Desmoid fibromatosis, H&E stain. Banal fibroblasts infiltrate the adjacent tissue in fascicles. Mitoses may be infrequent. SkinTumors-P9250815.jpg
Desmoid fibromatosis, H&E stain. Banal fibroblasts infiltrate the adjacent tissue in fascicles. Mitoses may be infrequent.

Desmoid tumors may be classified as extra-abdominal, abdominal wall, 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.[ citation needed ]

A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients. [5] FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively. [6]

Desmoid tumours of the breast are rare. Although benign, they can mimic breast cancer on physical examination, mammography and breast ultrasound and can also be locally invasive. Even though they occur sporadically, they can also be seen as a part of Gardner's syndrome. A high index of suspicion and a thorough triple examination protocol is necessary to detect rare lesions like a desmoid tumour which can masquerade as breast carcinoma. Desmoid tumour of the breast may present a difficulty in the diagnosis especially where imaging studies are not conclusive and suggest a more ominous diagnosis. [7]

Treatment

Treatment may consist of watchful waiting, complete surgical removal, radiation therapy, antiestrogens (ex. Tamoxifen), NSAIDs, chemotherapy, or microwave ablation.

Patients with desmoid tumors should be evaluated by a multi-disciplinary team of surgeons, medical oncologists, radiation oncologists, and geneticists. There is no cure for desmoid tumors; when possible, patients are encouraged to enlist in clinical trials. [8]

A biopsy is always indicated as the definitive method to determine nature of the tumour. Management of these lesions is complex, the main problem being the high rates of recurrence in FAP associated disease. Conversely, for intra-abdominal fibromatosis without evidence of FAP, although extensive surgery may still be required for local symptoms, the risk of recurrence appears to be lower. [9] Wide surgical resection with clear margins is the most widely practiced technique with radiation, chemotherapy, or hormonal therapy being used to reduce the risk of recurrence. [7]

Intestinal transplant is a treatment option for those patients with complicated desmoid tumor, such as those involving the mesenteric root, or those with intestinal failure resulting from the tumor or prior interventions. [10]

Current experimental studies are being done with Gleevec (Imatinib) and Nexavar (sorafenib) for treatment of desmoid tumors, and show promising success rates.

Related Research Articles

Gastrointestinal stromal tumor Human disease (cancer)

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs arise in the smooth muscle pacemaker interstitial cell of Cajal, or similar cells. They are defined as tumors whose behavior is driven by mutations in the KIT gene (85%), PDGFRA gene (10%), or BRAF kinase (rare). 95% of GISTs stain positively for KIT (CD117). Most (66%) occur in the stomach and gastric GISTs have a lower malignant potential than tumors found elsewhere in the GI tract.

Gardners syndrome Medical condition

Gardner's syndrome is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.

Spinal tumors are neoplasms located in either the vertebral column or the spinal cord. There are three main types of spinal tumors classified based on their location: extradural and intradural. Extradural tumors are located outside the dura mater lining and are most commonly metastatic. Intradural tumors are located inside the dura mater lining and are further subdivided into intramedullary and extramedullary tumors. Intradural-intramedullary tumors are located within the dura and spinal cord parenchyma, while intradural-extramedullary tumors are located within the dura but outside the spinal cord parenchyma. The most common presenting symptom of spinal tumors is nocturnal back pain. Other common symptoms include muscle weakness, sensory loss, and difficulty walking. Loss of bowel and bladder control may occur during the later stages of the disease.

Familial adenomatous polyposis Medical condition

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated. Three variants are known to exist, FAP and attenuated FAP are caused by APC gene defects on chromosome 5 while autosomal recessive FAP is caused by defects in the MUTYH gene on chromosome 1. Of the three, FAP itself is the most severe and most common; although for all three, the resulting colonic polyps and cancers are initially confined to the colon wall. Detection and removal before metastasis outside the colon can greatly reduce and in many cases eliminate the spread of cancer.

Fibromatosis Medical condition

The term fibromatosis refers to a group of soft tissue tumors which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent local recurrence. It is classed by the World Health Organization as an intermediate soft tissue tumor related to the sarcoma family.

Benign tumor Disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize

A benign tumor is a mass of cells (tumor) that lacks the ability to either invade neighboring tissue or metastasize. When removed, benign tumors usually do not grow back, whereas malignant tumors sometimes do. Unlike most benign tumors elsewhere in the body, benign brain tumors can be life-threatening. Benign tumors generally have a slower growth rate than malignant tumors and the tumor cells are usually more differentiated. They are typically surrounded by an outer surface or stay contained within the epithelium. Common examples of benign tumors include moles and uterine fibroids.

Ileostomy

Ileostomy is a stoma constructed by bringing the end or loop of small intestine out onto the surface of the skin, or the surgical procedure which creates this opening. Intestinal waste passes out of the ileostomy and is collected in an external ostomy system which is placed next to the opening. Ileostomies are usually sited above the groin on the right hand side of the abdomen.

Duodenal cancer Medical condition

Duodenal cancer is a cancer in the first section of the small intestine known as the duodenum. Cancer of the duodenum is relatively rare compared to stomach cancer and colorectal cancer. Its histology is usually adenocarcinoma.

Desmoplastic small-round-cell tumor An aggressive and rare cancer

Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metastatic spread include the liver, lungs, lymph nodes, brain, skull, and bones. It is characterized by the EWS-WT1 fusion protein.

Phyllodes tumor Medical condition

Phyllodes tumors, also cystosarcoma phyllodes, cystosarcoma phylloides and phylloides tumor, are typically large, fast-growing masses that form from the periductal stromal cells of the breast. They account for less than 1% of all breast neoplasms.

Hepatoblastoma Liver cancer occurring in infants and children

Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. They usually present with an abdominal mass. The disease is most commonly diagnosed during a child's first three years of life. Alpha-fetoprotein (AFP) levels are commonly elevated, but when AFP is not elevated at diagnosis the prognosis is poor.

A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma, and retinoblastoma. The suffix -blastoma is used to imply a tumor of primitive, incompletely differentiated cells, e.g., chondroblastoma is composed of cells resembling the precursor of chondrocytes.

Adenomatous polyposis coli

Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. Mutations in the APC gene may result in colorectal cancer.

Fundic gland polyposis Medical condition

Fundic gland polyposis is a medical syndrome where the fundus and the body of the stomach develop many fundic gland polyps. The condition has been described both in patients with familial adenomatous polyposis (FAP) and attenuated variants (AFAP), and in patients in whom it occurs sporadically.

Dysembryoplastic neuroepithelial tumour Medical condition

Dysembryoplastic neuroepithelial tumour is a type of brain tumor. Most commonly found in the temporal lobe, DNTs have been classified as benign tumours. These are glioneuronal tumours comprising both glial and neuron cells and often have ties to focal cortical dysplasia.

Liver cancer Medical condition

Liver cancer is cancer that starts in the liver. Liver cancer can be primary or secondary. Liver metastasis is more common than that which starts in the liver. Liver cancer is increasing globally.

Colorectal polyp Medical condition

A colorectal polyp is a polyp occurring on the lining of the colon or rectum. Untreated colorectal polyps can develop into colorectal cancer.

A borderline tumor, sometimes called low malignant potential (LMP) tumor, is a distinct but yet heterogeneous group of tumors defined by their histopathology as atypical epithelial proliferation without stromal invasion. It generally refers to such tumors in the ovary but borderline tumors may rarely occur at other locations as well.

Nuchal-type fibroma is a rare benign proliferation involving the dermis and subcutaneous tissues, that is a collection of dense, hypocellular bundles of collagen with entrapped adipocytes and increased numbers of small nerves. It is no longer called a nuchal fibroma, but instead a "nuchal-type fibroma" since it develops in other anatomic sites. There is no known etiology.

Apc, wnt signaling pathway regulator

APC, WNT signaling pathway regulator is a protein that in humans is encoded by the APC gene.

References

  1. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, Botma A, et al. (February 2008). "Desmoid tumors in a Dutch cohort of patients with familial adenomatous polyposis". Clinical Gastroenterology and Hepatology. 6 (2): 215–9. doi:10.1016/j.cgh.2007.11.011. PMID   18237870.
  2. " desmoid " at Dorland's Medical Dictionary
  3. Lynch HT, Fitzgibbons R (December 1996). "Surgery, desmoid tumors, and familial adenomatous polyposis: case report and literature review". The American Journal of Gastroenterology. 91 (12): 2598–601. PMID   8946994.
  4. Sinha A, Clark SK (2010). "Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis". Colorectal Disease. 13 (11): 1222–1229. doi:10.1111/j.1463-1318.2010.02345.x. PMID   20528895. S2CID   26117431.
  5. Sinha A, Clark SK (June 2010). "Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience". Techniques in Coloproctology. 14 (2): 141–6. doi:10.1007/s10151-010-0573-4. PMID   20352275. S2CID   24922322.
  6. Sinha A, Clark SK (2010). "Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?". Familial Cancer. 9 (3): 407–11. doi:10.1007/s10689-010-9342-9. PMID   20428953. S2CID   20685381.
  7. 1 2 Rammohan A, Wood JJ (2012). "Desmoid tumour of the breast as a manifestation of Gardner's syndrome". International Journal of Surgery Case Reports. 3 (5): 139–142. doi:10.1016/j.ijscr.2012.01.004. PMC   3312056 . PMID   22370045.
  8. "About Desmoid Tumors". Archived from the original on 2015-07-27. Retrieved 2015-08-04.
  9. Wilkinson MJ, Fitzgerald JE, Thomas JM, Hayes AJ, Strauss DC (2012). "Surgical resection for non-familial adenomatous polyposis-related intra-abdominal fibromatosis". British Journal of Surgery. 99 (5): 706–13. doi:10.1002/bjs.8703. PMID   22359346. S2CID   205512855.
  10. name= Chatzipetrou MA, Tzakis AG, Pinna AD, Kato T, Misiakos EP, Tsaroucha AK, Weppler D, Ruiz P, Berho M, Fishbein T, Conn HO, Ricordi C. Intestinal transplantation for the treatment of desmoid tumors associated with familial adenomatous polyposis. Surgery. 2001 Mar;129(3):277-81.https://doi.org/10.1067/msy.2001.110770
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