The perivascular epithelioid cell neoplasm (PEComa) is a rare soft tissue tumor. They frequently form around small blood vessels (perivascular spaces) in various body parts such as the lungs, GI tract, kidneys, liver, and uterus. PEComas have some features that are shared with melanocytes and smooth muscle cells and are composed of cells with an epithelioid (cuboidal) shape.
Most PEComas are benign but some can be malignant, proliferate, and spread throughout the body. PEComas are also associated with the genetic condition tuberous sclerosis complex (TSC) in which multiple tumors form in the body. In addition to intellectual disabilities, seizures may also be present.
About 50 cases of GI PEComas-NOS have been reported in the English literature, and most of them are case reports or small-scale case series studies.
Signs and symptoms of PEComas vary and depend on the tumor location. Some PEComas cause no symptoms. PEComa may be visible as a painful or painless mass in patients with symptoms. These tumors may present with vaginal bleeding in women with PEComas in the reproductive tract.
Sporadic cases of PEComas have no known cause. The genetic condition of the tuberous sclerosis complex (TSC) may cause PEComas.
People of all ages, from children to seniors, can develop PEComas. PEComas often occur in children with TSC. Generally, PEComas are more likely to occur in women in their middle years, with some studies reporting 5 to 7 times more risk in females.
Depending on the type of tumor, the average age of onset varies widely. The most common and well-described PEComa, renal AML, has an estimated prevalence of 0.44%. The number of malignant PEComas diagnosed per million people is estimated to be between 0.12 and 0.24.
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