{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:35:27Z","timestamp":1773189327040,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,5,16]],"date-time":"2017-05-16T00:00:00Z","timestamp":1494892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Allergy"],"published-print":{"date-parts":[[2017,11]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Sensitive KIT<\/jats:styled-content><\/jats:italic> D816V mutation analysis of blood has been proposed to guide bone marrow (BM<\/jats:styled-content>) investigation in suspected systemic mastocytosis (SM<\/jats:styled-content>). The aim of this prospective study was for the first time to compare the D816V status of the \u201cscreening blood sample\u201d used to guide BM<\/jats:styled-content> biopsy in suspected SM<\/jats:styled-content> to the outcome of the subsequent BM<\/jats:styled-content> investigation.<\/jats:p><\/jats:sec>Methods<\/jats:title>Fifty\u2010eight adult patients with suspected SM<\/jats:styled-content> were included. The outcome of sensitive KIT<\/jats:styled-content><\/jats:italic> D816V analysis of blood was compared to the result of the BM<\/jats:styled-content> investigation.<\/jats:p><\/jats:sec>Results<\/jats:title>Screening blood samples from 44 of 58 patients tested D816V\u2010positive. In 43 of these, SM<\/jats:styled-content> was subsequently diagnosed in the BM<\/jats:styled-content> investigation. One patient with a D816V\u2010positive screening sample was diagnosed with monoclonal MC<\/jats:styled-content> activation syndrome. Screening blood samples from 14 patients tested D816V\u2010negative. SM<\/jats:styled-content> was subsequently diagnosed in five of these, whereas nine patients did not fulfill any diagnostic SM<\/jats:styled-content> criteria (excluding tryptase criterion). Of the 48 SM<\/jats:styled-content> patients, 90% tested D816V\u2010positive. Thirteen SM<\/jats:styled-content> patients presented with Hymenoptera venom\u2010induced anaphylaxis, no skin lesions, and baseline serum tryptase \u226420 ng\/mL<\/jats:styled-content>. Of these, 92% tested D816V\u2010positive in the screening blood sample.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>This prospective study demonstrates that a D816V\u2010positive result in a screening blood sample identifies SM<\/jats:styled-content> among patients with hymenoptera venom\u2010induced anaphylaxis in whom the diagnosis would most probably have been missed, with potential severe implications. The observed false\u2010negative screening results also underline that BM<\/jats:styled-content> investigation is mandatory in all adult patients with clear signs of, or highly suspected SM<\/jats:styled-content>, regardless of the KIT<\/jats:styled-content><\/jats:italic> mutation status.<\/jats:p><\/jats:sec>","DOI":"10.1111\/all.13187","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T07:16:40Z","timestamp":1492845400000},"page":"1737-1743","source":"Crossref","is-referenced-by-count":35,"title":["Prospective evaluation of the diagnostic value of sensitive KIT<\/scp><\/i> D816V mutation analysis of blood in adults with suspected systemic mastocytosis"],"prefix":"10.1111","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9834-8771","authenticated-orcid":false,"given":"T.","family":"Kristensen","sequence":"first","affiliation":[{"name":"Department of Pathology Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Department of Hematology Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Bindslev\u2010Jensen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"},{"name":"Odense Research Center for Anaphylaxis (ORCA) Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8710-0829","authenticated-orcid":false,"given":"C. G.","family":"Mortz","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"},{"name":"Odense Research Center for Anaphylaxis (ORCA) Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. F.","family":"Kjaer","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"},{"name":"Odense Research Center for Anaphylaxis (ORCA) Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ollert","sequence":"additional","affiliation":[{"name":"Odense Research Center for Anaphylaxis (ORCA) Odense University Hospital Odense Denmark"},{"name":"Department of Infection and Immunity Luxembourg Institute of Health Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. B.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Pathology Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Broesby\u2010Olsen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"},{"name":"Odense Research Center for Anaphylaxis (ORCA) Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Mastocytosis Centre Odense University Hospital (MastOUH)","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(01)00038-8"},{"key":"e_1_2_8_3_1","first-page":"54","volume-title":"World Health Organization (WHO) Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Horny HP","year":"2008"},{"key":"e_1_2_8_4_1","first-page":"291","volume-title":"World Health Organization (WHO) Classification of Tumours. 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