Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis (PB-KIT in SM)
Study on the Diagnostic Value of Peripheral Blood KIT-D816V Mutation Detection in Adult Systemic Mastocytosis
Studienübersicht
Status
Bedingungen
Detaillierte Beschreibung
Systemic mastocytosis (SM) is a rare hematologic neoplasm characterized by the abnormal clonal proliferation and accumulation of mast cells in various organs, most notably the bone marrow. The somatic KIT-D816V mutation is identified in over 90% of adult patients with SM and serves as a major World Health Organization (WHO) diagnostic criterion.
Traditionally, detecting this mutation and definitively diagnosing SM requires a bone marrow aspiration and biopsy, which are invasive, painful, and carry procedural risks. While peripheral blood allele burdens are generally lower than those in the bone marrow, the advent of ultra-sensitive molecular techniques, such as droplet digital PCR (ddPCR), has opened new avenues for non-invasive testing.
This study (ID: SZ-SM02) is designed to systematically investigate the efficacy of detecting the peripheral blood KIT-D816V mutation in adult SM patients. By utilizing ddPCR, we will quantify the mutant allele burden in peripheral blood samples and correlate these findings with matched bone marrow biopsy results, clinical symptom severity, and disease subtypes. The primary objective is to assess the sensitivity, specificity, and overall diagnostic accuracy of peripheral blood ddPCR compared to the gold-standard bone marrow evaluation. Secondary objectives include evaluating the feasibility of using peripheral blood mutational burden as a dynamic biomarker for monitoring disease progression and treatment response. Ultimately, this study seeks to validate a less invasive diagnostic pathway that reduces the burden on patients while maintaining high diagnostic precision.
Studientyp
Einschreibung (Geschätzt)
Kontakte und Standorte
Studienkontakt
- Name: Suning Chen, professor
- Telefonnummer: +86-13814881746
- E-Mail: chensuning@sina.com
Studieren Sie die Kontaktsicherung
- Name: Suning Chen Chen, Professor
- Telefonnummer: +86-13814881746
- E-Mail: chensuning@sina.com
Studienorte
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Jiangsu
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Suzhou, Jiangsu, China, 215000
- Rekrutierung
- The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology
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Kontakt:
- Suning Chen, Professor
- Telefonnummer: +8613814881746
- E-Mail: chensuning@sina.com
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Teilnahmekriterien
Zulassungskriterien
Studienberechtigtes Alter
- Erwachsene
- Älterer Erwachsener
Akzeptiert gesunde Freiwillige
Probenahmeverfahren
Studienpopulation
Beschreibung
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.
Studienplan
Wie ist die Studie aufgebaut?
Designdetails
Kohorten und Interventionen
Gruppe / Kohorte |
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Suspected Systemic Mastocytosis (SM) Patients
Adult patients with suspected systemic mastocytosis (SM).
Matched peripheral blood and bone marrow samples will be collected from these patients for the detection and quantification of the KIT-D816V mutation via droplet digital PCR (ddPCR).
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Non-SM Hematologic Disease Patients (Control)
Adult patients diagnosed with non-SM hematologic diseases, serving as the control cohort.
Matched peripheral blood and bone marrow samples will be collected for comparative KIT-D816V mutation analysis.
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Was misst die Studie?
Primäre Ergebnismessungen
Ergebnis Maßnahme |
Maßnahmenbeschreibung |
Zeitfenster |
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To assess the diagnostic efficacy of peripheral blood KIT-D816V mutation detection using ddPCR for Systemic Mastocytosis (SM).
Zeitfenster: At the time of diagnosis and initial bone marrow biopsy.
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To evaluate the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and Area Under the Curve (AUC) of ddPCR detection of the KIT-D816V mutation in peripheral blood for the diagnosis of SM, compared to bone marrow biopsy.
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At the time of diagnosis and initial bone marrow biopsy.
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Mitarbeiter und Ermittler
Studienaufzeichnungsdaten
Haupttermine studieren
Studienbeginn (Tatsächlich)
Primärer Abschluss (Geschätzt)
Studienabschluss (Geschätzt)
Studienanmeldedaten
Zuerst eingereicht
Zuerst eingereicht, das die QC-Kriterien erfüllt hat
Zuerst gepostet (Tatsächlich)
Studienaufzeichnungsaktualisierungen
Letztes Update gepostet (Tatsächlich)
Letztes eingereichtes Update, das die QC-Kriterien erfüllt
Zuletzt verifiziert
Mehr Informationen
Begriffe im Zusammenhang mit dieser Studie
Zusätzliche relevante MeSH-Bedingungen
Andere Studien-ID-Nummern
- SZ-SM02
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