Study on the Diagnostic Value of Peripheral Blood KIT-D816V Mutation Detection in Adult Systemic Mastocytosis
This observational study aims to evaluate the diagnostic value and clinical utility of detecting the KIT-D816V mutation in the peripheral blood of adult patients with systemic mastocytosis (SM), using droplet digital PCR (ddPCR). Currently, the diagnosis of SM relies heavily on invasive bone marrow biopsies. This study will determine whether highly sensitive ddPCR testing of peripheral blood could provide a reliable, minimally invasive alternative for detecting the KIT-D816V mutation, which is a key driver of the disease and a major diagnostic criterion. The results could optimize the diagnostic process and continuous monitoring of adult SM patients.
• Age \>= 18 years.
• Presenting with recurrent idiopathic anaphylactic reactions (e.g., hypotension, syncope), mast cell activation syndrome (MCAS)-related symptoms (flushing, abdominal pain, diarrhea), urticaria pigmentosa, or histopathological findings of mast cell aggregation.
• No prior treatment with KIT inhibitors or drugs affecting mast cell function (e.g., corticosteroids, interferon, immunosuppressants).
• Willingness to undergo bone marrow examination and peripheral blood KIT-D816V testing, consent to biannual clinical follow-up for 6 months, and signing of the informed consent form.