What is uterine PEComa?

What is uterine PEComa?

In the WHO classification of soft tissue neoplasms [10], PEComa was defined as “mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells”, including angiomyolipoma, clear cell sugar tumors, lymphagioleiomyomatosis, clear cell myomelanocytic tumor of the …

What causes PEComa?

The most common tumours in the PEComa family are renal angiomyolipoma and pulmonary lymphangioleiomyomatosis, both of which are more common in patients with tuberous sclerosis complex. The genes responsible for this multi-system genetic disease have also been implicated in other PEComas.

How is PEComa treated?

The most effective treatment for gastrointestinal PEComa is surgical resection. Surgical resection of the tumor with the adjacent tissue in the gastrointestinal tract is the mainstay of treatment of the primary tumor and of local recurrence.

Is PEComa treatable?

PEComa exhibits a wide variety of behavior, from benign disease treatable by excision alone, to most recently described malignant disease with a poor chemotherapeutic response and prognosis [6].

Is PEComa hereditary?

Perivascular epithelioid cell neoplasms (PEComa) are a family of rare mesenchymal tumors with hybrid myo-melanocytic differentiation. Although most PEComas harbor loss of function TSC1/TSC2 mutations, a small subset were reported to carry TFE3 gene rearrangements.

What is the origin of epithelioid cells?

Epithelioid cells are cells of the mononuclear phagocyte system found in certain granulomas mainly associated with intense immunological activity. These cells show little phagocytic activity. It is suggested that “vesicular epithelioid cells could develop from “secretory” epithelioid cells by a process of degeneration.

What is malignant epithelioid neoplasm?

Malignant epithelioid tumors are uncommon tumors in the brain. They are aggressive tumors and have high mortality. In certain cases, the IHC findings may not be sufficient to clarify the diagnosis. In these cases, next-generation genetic sequencing may play a role in clarifying the diagnosis.

Is PEComa a sarcoma?

Malignant PEComa is an “ultra rare and aggressive” soft-tissue sarcoma that carries a high risk of metastases, explained Wagner, and no therapies are specifically approved for this indication.

What are granulomas made of?

Granulomas can be composed of macrophages (foreign body reaction), epithelioid cells (immune granulomas of sarcoidosis, tuberculosis), or Langerhans’ cells (histiocytosis X).

What does granulomatous mean?

What does that mean? A granuloma is a small area of inflammation. Granulomas are often found incidentally on an X-ray or other imaging test done for a different reason. Typically, granulomas are noncancerous (benign). Granulomas frequently occur in the lungs, but can occur in other parts of the body and head as well.