Incorporating new mathematical and laboratory techniques into existing flow cytometry protocols may enhance the detection of systemic mastocytosis (SM), a study recently published in Cytometry Part A found.
Flow cytometry is a technology that can be used to diagnose SM by detecting various biomarkers of abnormal mast cell expression in the bone marrow. Although this strategy is very useful for identifying patients with SM and ruling out other conditions, it has limitations that may result in misdiagnosis in some cases.
“Various sources of interference and methodological errors in flow cytometric analysis of [mast cells] can significantly compromise accuracy,” the authors explained.
The study included 492 participants who received bone marrow biopsies between 2009 and 2024. Of the 196 patients in the study who were diagnosed with SM, 195 had mutations in the KIT gene, which is the most common cause of SM.
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Results showed that abnormal mast cells were expressed at very low levels in the bone marrow of some patients with SM, potentially complicating diagnosis. Furthermore, interference from other cell types made it difficult to differentiate abnormal mast cells from other cell populations.
The use of a specialized fluorescent dye and the incorporation of additional mast cell markers greatly improved the detection of abnormal mast cells in the samples by correcting for this interference.
Additionally, the study found that slightly adjusting the mathematical formula typically used to quantify levels of mast cell markers helped to reduce false positives and false negatives.
“These measures enhance the diagnostic process of patients with [mast cell]-mediator related symptoms, and accordingly, improve patient management,” the authors said.
Based on these findings, the authors propose a larger, multicenter study be conducted in the future to validate their results.
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