Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mastocytosis comprises several diseases characterized by an abnormal increase in tissue mast cells. Cutaneous mastocytosis (CM) is the most common form of mastocytosis, affects predominantly children, and presents as a mast cell hyperplasia limited to the skin. Systemic mastocytosis (SM) comprises multiple distinct entities in which mast cells in filtrate the skin and/or other organs. The diagnosis of SM is based on the presence of one major criterion and one minor criterion or three minor criteria. Major criteria include the presence of multifocal dense infiltrates of > 15 mast cells in bone marrow and/or other extracutaneous organs. Four minor criteria include the presence of elevated serum alpha-tryptase levels > 20 ng/mL, the expression of CD2 and CD25 surface markers in c-kit-positive mast cells from bone marrow or other organs, the presence of a c-kit mutations on bone marrow and/or other tissues mast cells, and the presence of > 25% abnormal spindle-shaped mast cells in bone marrow and/or tissues. Symptoms of CM include pruritus, flushing urticaria, and dermatographism. Symptoms of SM include cutaneous symptoms in association with syncope, gastric distress, nausea and vomiting, diarrhea, bone pain, and neuropsychiatric symptoms. Activating and nonactivating mutations of c-kit (Asp816Val) are seen in adult SM and in some pediatric CM (Gly839Lys), indicating a clonal dysregulation. There is no cure for mastocytosis but the majority of pediatric CM regress at puberty. Women with mastocytosis are fertile and pregnancy and delivery have been successful by blocking mast cell-mediated symptoms. Symptomatic treatment aimed at reducing the effect of mediators is effective with antihistamines and mast cell-stabilizing agents such as sodium cromolyn. To reduce mast cell burden, interferon alpha, steroids, and purine analogs have been used with varying results. Future directions include tyrosine kinase inhibitors and bone marrow transplant.
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PMID:Mastocytosis: classification, diagnosis, and clinical presentation. 1505 60

Gastrointestinal stromal tumor (GIST) is defined as a c-kit-positive gastrointestinal, mesenteric, or omental mesenchymal tumor that very rarely metastasizes to the brain. Metastasis to the cerebellum is particularly rare. An 80-year-old man presented with nausea and vomiting with disturbance of consciousness. Magnetic resonance imaging (MRI) revealed tumor in the cerebellar vermis causing obstructive hydrocephalus. The patient subsequently underwent midline suboccipital craniotomy, and the tumor was totally removed. Immunohistochemical analysis showed tumor cells positive for c-kit and CD34, and cerebellar metastasis of GIST was diagnosed. Postoperative radiotherapy was administered. Following surgery and radiotherapy, the patient developed ileus caused by tumor in the small intestine and underwent laparotomy for tumor removal. Following abdominal surgery, left hemiparesis and consciousness disturbance were noted. Computed tomography showed recurrent large tumor with perifocal edema in the right frontal lobe of the brain. The patient died 3 months after initial craniotomy. Intracranial metastasis of GIST is extremely rare. In cases such as the present, where the condition of the patient rapidly deteriorates and features such as rising intracranial pressure and ileus prevent the use of oral agents, molecular-targeted agents administered by intravenous infusion should be utilized.
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PMID:Metastatic cerebellar gastrointestinal stromal tumor with obstructive hydrocephalus arising from the small intestine: a case report and review of the literature. 2561 Jun 78