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Title
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Diagnosis of primary mast cell disorders in anaphylaxis : value of KIT D816V in peripheral blood
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Author
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Abstract
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| Background Anaphylaxis is frequent in patients suffering from primary mast cell disorders (PMCDs). In patients without mastocytosis in the skin (MIS) and a baseline serum tryptase (bST) less than 30 ng/mL, the diagnosis of PMCD is challenging. In these patients, detection of the KIT D816V mutation in peripheral blood (PB) has been suggested as screening tool for a PMCD. Objective In this study, we investigated whether KIT D816V in PB can contribute to the decision to perform a bone marrow (BM) biopsy in patients with anaphylaxis without MIS and a bST less than 30 ng/mL. Methods We selected 74 patients with severe anaphylaxis without MIS and a bST less than 30 ng/mL. All underwent a BM biopsy. KIT D816V mutation was quantified in both PB and BM using digital droplet polymerase chain reaction (ddPCR). Results Diagnosis of a PMCD was established in 40 patients (54%). Median bST for patients with and without PMCD was, respectively, 9.5 ng/mL (range 4.2-27 ng/mL) and 4.9 ng/mL (range 2.2-20.3 ng/mL) (P <.001). KIT D816V in PB was detected in 16 out of 40 (40%) patients with PMCD. KIT D816V in BM was detected in 22 out of 40 (55%) patients with PMCD. Conclusions In patients without MIS and a bST less than < 30 ng/mL who experience anaphylaxis, determination of KIT D816V mutation in PB is of limited help in deciding when to proceed to a BM biopsy. Therefore, KIT D816V in PB mutation analysis should be interpreted together with scoring tools to make a better assessment in identifying patients who should undergo BM biopsy. |
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Language
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English
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Source (journal)
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The journal of allergy and clinical immunology. In practice. - New York, NY, 2013, currens
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Publication
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New York, NY
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Elsevier Inc
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2021
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ISSN
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2213-2198
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DOI
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10.1016/J.JAIP.2021.04.062
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Volume/pages
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9
:8
(2021)
, p. 3176-3187.e3
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ISI
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000684981400034
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Pubmed ID
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33975032
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Full text (Publisher's DOI)
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Full text (open access)
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Full text (publisher's version - intranet only)
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