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Correlation between the <t>KIT</t> <t>p.D816V</t> VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.
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Correlation between the <t>KIT</t> <t>p.D816V</t> VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.
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Correlation between the <t>KIT</t> <t>p.D816V</t> VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.
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Correlation between the <t>KIT</t> <t>p.D816V</t> VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.
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Correlation between the KIT p.D816V VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.

Journal: Blood

Article Title: Improved diagnostic screening and classification of clonal mast cell diseases by ultrasensitive KIT p.D816V detection ∗

doi: 10.1182/blood.2025029507

Figure Lengend Snippet: Correlation between the KIT p.D816V VAF by ASOqPCR and the Flow-SuperRCA. Correlation between the KIT p.D816V VAF by ASOqPCR (A) vs the Flow-SuperRCA (B) assay in paired BM (C) and PB (D) samples from patients with MCAS and mastocytosis distributed according to the diagnostic subtype of both diseases. LOD of the ASOqPCR assay: 0.005% VAF. LOD of the flow SuperRCA assay: 0.001% VAF.

Article Snippet: A total of 12 patients (4%) displayed KIT mutations other than KIT p.D816V: KIT p.D419del (n = 1), KIT p.K509I (n = 2), KIT p.V532I (n = 2), KIT p.D816H (n = 3), KIT p.D816Y (n = 3), and KIT p.I817T (n = 1); these cases represented 1 of 27 (4%) patients with MMAS and 11 of 220 (5%) patients with mastocytosis.

Techniques: Diagnostic Assay

Diagnostic screening algorithm based on KIT p.D816V testing with the new sensitive Flow-SuperRCA assay for patients with MCAS without skin lesions. Clonality can be demonstrated through detection of an activating KIT mutation in BM and/or PB gDNA with the most sensitive method (Flow-SuperRCA) and/or by demonstrating aberrant CD25, CD2, and/or CD30 expression in BMMCs by flow cytometry immunophenotyping and/or immunohistochemistry.

Journal: Blood

Article Title: Improved diagnostic screening and classification of clonal mast cell diseases by ultrasensitive KIT p.D816V detection ∗

doi: 10.1182/blood.2025029507

Figure Lengend Snippet: Diagnostic screening algorithm based on KIT p.D816V testing with the new sensitive Flow-SuperRCA assay for patients with MCAS without skin lesions. Clonality can be demonstrated through detection of an activating KIT mutation in BM and/or PB gDNA with the most sensitive method (Flow-SuperRCA) and/or by demonstrating aberrant CD25, CD2, and/or CD30 expression in BMMCs by flow cytometry immunophenotyping and/or immunohistochemistry.

Article Snippet: A total of 12 patients (4%) displayed KIT mutations other than KIT p.D816V: KIT p.D419del (n = 1), KIT p.K509I (n = 2), KIT p.V532I (n = 2), KIT p.D816H (n = 3), KIT p.D816Y (n = 3), and KIT p.I817T (n = 1); these cases represented 1 of 27 (4%) patients with MMAS and 11 of 220 (5%) patients with mastocytosis.

Techniques: Diagnostic Assay, Mutagenesis, Expressing, Flow Cytometry, Immunohistochemistry