Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis

Summary

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.

Eligibility

Inclusion Criteria:

* 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.

Exclusion Criteria:

* Patients from whom specimens cannot be obtained (e.g., due to comorbidities or coagulation abnormalities preventing sufficient peripheral blood collection or bone marrow biopsy).
* Prior diagnosis of other clonal hematologic diseases (e.g., other types of leukemia or lymphoid malignancies) that could interfere with the specificity of the KIT-D816V mutation assessment.
* Treatment with targeted KIT drugs (e.g., imatinib, avapritinib) within the last 3 months.
* Systemic corticosteroid, interferon, or immunosuppressive therapy within the last 1 month.
* Refusal to participate or inability to complete follow-up due to severe comorbidities or other personal reasons.

Conditions3

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