Desmoid Tumor

Summarized by Plex Health
Last Updated: 02 May 2022

The complying with summary is from Orphanet, a European referral portal for info on rare diseases and orphan drugs. DefinitionA desmoid tumor is a benign, locally invasive soft tissue tumor connected with a high reappearance rate but without any metastatic potential. EpidemiologyDTs account for < 3% of soft tissue tumors. Intra-abdominal DTs are usually observed in patients with an association of familial adenomatous polyposis or Gardner syndrome. EtiologyDTs arise from the expansion of well-differentiated myofibroblasts. Somatic mutations in the CTNNB1 genetics encoding beta-catenin have been found in about 85 % of sporadic cases. Immunohistological assessment shows expression of muscle cell pens and lack of CD34. Medical diagnosis can be verified by evaluating for mutations of CTNNB1. Differential diagnosisThe differential medical diagnosis is wide with fibrosarcomas on the one extreme and myofibroblastic procedures such as nodular fasciitis and even hypertrophic scars and keloids on the other. Repeated medical resections are connected with a greater risk of morbidity. Visit the Orphanet disease page for more resources. Typically, a solitary tumor develops, although some people have several tumors. Tumors that create in the abdominal wall are called abdominal desmoid tumors; those that occur from the tissue that links the abdominal body organs are called intra-abdominal desmoid tumors; and tumors found in other areas of the body are called extra-abdominal desmoid tumors. Desmoid tumors are coarse, just like scar tissue. One of the most common symptom of desmoid tumors is pain. Intra-abdominal desmoid tumors can obstruct the digestive tract, triggering constipation. Extra-abdominal desmoid tumors can limit the movement of affected joints and cause limping or difficulty moving the arms or legs. Desmoid tumors occur frequently in people with an acquired type of colon cancer called familial adenomatous polyposis. These individuals generally develop intra-abdominal desmoid tumors along with abnormal developments and malignant tumors in the colon. Desmoid tumors that are not part of an acquired problem are referred to as sporadic. A desmoid tumor can occur throughout the body since connective tissue is found all over in your body. While the cells of the desmoid tumor do not take a trip to parts the body like cancer can, they can attack neighboring tissue and are frequently very agonizing. Desmoid tumors are most common in people between the ages of 15 and 60 years. Some people with desmoid tumors have symptoms, while others do not. Imaging: If you have symptoms of a desmoid tumor, your physician may use imaging scans such as CT, MRI, or ultrasound to see where the tumor is and its size. Biopsy: To inspect if the tumor is a desmoid tumor your doctor will do a biopsy, taking a percentage of the tumor out with a needle. It might be best for your medical professional to examine your tumor on a regular basis without treating it.

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