Malignant mastocytosis
Malignant mastocytosis is a rare and aggressive form of mastocytosis, a disease involving the abnormal growth and accumulation of mast cells in the body's tissues. Malignant mastocytosis is characterized by the presence of mast cells that have become malignant, or cancerous, and is often associated with a poor prognosis.
Etiology[edit | edit source]
The exact cause of malignant mastocytosis is unknown, but it is believed to be related to mutations in the KIT gene, which provides instructions for making a protein that helps control many important cellular processes. Mutations in the KIT gene can lead to uncontrolled growth and division of mast cells, resulting in their accumulation in various tissues and organs.
Symptoms[edit | edit source]
Symptoms of malignant mastocytosis can vary widely, but often include skin lesions, anaphylaxis, abdominal pain, diarrhea, and bone pain. In severe cases, the disease can lead to organ damage and failure.
Diagnosis[edit | edit source]
Diagnosis of malignant mastocytosis typically involves a combination of physical examination, medical history, laboratory tests, and biopsy of affected tissues. The presence of mast cells in unusual locations or in high numbers, along with the presence of certain markers on the surface of the mast cells, can help confirm the diagnosis.
Treatment[edit | edit source]
Treatment for malignant mastocytosis is typically aimed at controlling symptoms and slowing the progression of the disease. This may involve medications to control allergic reactions, chemotherapy to kill cancerous mast cells, and in some cases, stem cell transplantation.
Prognosis[edit | edit source]
The prognosis for individuals with malignant mastocytosis is generally poor, due to the aggressive nature of the disease and the lack of effective treatments. However, some individuals may respond well to treatment and achieve a measure of symptom control and improved quality of life.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Malignant mastocytosis is a rare disease.
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Contributors: Prab R. Tumpati, MD
