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Cited by 13Mast cells and histamineFood Allergy and Anaphylaxis ResearchGastrointestinal Tumor Research and Treatment

Diagnosis of Primary Mast Cell Disorders in Anaphylaxis: Value of KIT D816V in Peripheral Blood

De Puysseleyr, Leander P., Ebo, Didier G., Elst, Jessy, Faber, Margaretha A., Poorten, Marie-Line van der, Van Gasse, Athina L., Bridts, Chris H., Mertens, Christel +7 more·2021·The Journal of Allergy and Clinical Immunology In Practice
DOI 10.1016/j.jaip.2021.04.062
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Abstract

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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  • Increased sensitivity of methodology has shown comparable results for mutational testing on BM and PB, with a discordance rate ranging from 5% to 10%.

    “the increased sensitivity of the methodology has shown comparable results for mutational testing on BM and PB, with a discordance rate ranging from 5% to 10% (40, 42, 45, 46).”

    From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [46]

    The PB-versus-BM results (p. 11) show discordant KIT D816V results in 7 of 74 patients, about 9.5%, within the claimed range. But six mutations were detected only in BM, and the Discussion (p. 13) says a negative PB result is not reliable for excluding a primary mast cell disorder. Calling the tests broadly comparable overstates this study's finding in its selected anaphylaxis population. (LLM, conf=0.87)

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  • Even with a highly sensitive test, a negative result for the KIT D816V mutation in peripheral blood would not exclude underlying primary mast cell disorder, since this has a low negative predictive value.

    “Importantly, even with a highly sensitive test, a negative result for the KIT D816V mutation in peripheral blood would not exclude underlying PMCD, since this has a low negative predictive value [68,69].”

    From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [68]

  • The negative predictive value of KIT D816V testing in PB was approximately 40% in patients with BST levels between 5 and 30 ng/ml.

    “The negative predictive value was approximately 40% in patients with BST levels between 5 and 30 ng/ml (46).”

    From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [46]

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Research works printed but not linked: 2

  1. [6]6. patients. Blood 2006; 108:2366-72. 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448 449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464
  2. [25]25. Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, et al. Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. Cancer research 2017; 77:1261-70.

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Authors
De Puysseleyr, L. P., Ebo, D. G., Elst, J., Faber, M. A., Poorten, M.-L. V. D., Van Gasse, A. L., Bridts, C. H., Mertens, C., Van Houdt, M., Hagendorens, M. M., Verlinden, A., Vermeulen, K., Maes, M.-B., Berneman, Z. N., & Sabato, V.
Affiliations
  • University of Antwerp (BE)
  • Antwerp University Hospital (BE)
Corresponding author
Ebo, Didier G.
ORCID
Venue
The Journal of Allergy and Clinical Immunology In Practice
Publisher
Elsevier BV
Published
2021-08
Volume
9
Issue
8
Pages
3176-3187.e3
ISSN
2213-2198 (ISSN-L)
DOI
10.1016/j.jaip.2021.04.062
OpenAlex
W3163018495
Cited by
13
References
32
Citations by year
2025: 4 · 2023: 4 · 2022: 4 · 2021: 1
FWCI
0.84
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • The Journal of Allergy and Clinical Immunology In Practice (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
  • Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
Keywords
anaphylaxis, KIT D816V mutation, peripheral blood, bone marrow biopsy, droplet digital PCR, diagnostic screening
MeSH terms
Anaphylaxis, Humans, Mast Cells, Mastocytosis, Mutation, Proto-Oncogene Proteins c-kit, Mastocytosis, Systemic

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