{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:00:22Z","timestamp":1792123222561,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Paediatric mastocytosis is a heterogeneous disorder with different clinical subtypes and an often indolent disease course. The molecular landscape of genetic mutations, beyond <jats:italic>KIT<\/jats:italic> D816V, remains under exploration. We thus investigated the prevalence of myeloid genetic mutations in peripheral blood samples of 69 paediatric patients with cutaneous mastocytosis and systemic mastocytosis (SM) using next\u2010generation sequencing. <jats:italic>KIT<\/jats:italic> D816V was exclusively found in those with SM, while other <jats:italic>KIT<\/jats:italic> mutations (D419del, A502_Y503dup, Y503_A507dup, G565V and N822H) were only detected in those with cutaneous disease. Although no other common non\u2010<jats:italic>KIT<\/jats:italic> myeloid mutations were shared among patients, we identified 64 non\u2010synonymous coding genetic mutations across 30 genes, including 15 classified as pathogenic\/likely pathogenic, with none occurring in <jats:italic>SRSF2<\/jats:italic> and <jats:italic>ASXL1<\/jats:italic>. Most of these pathogenic\/likely pathogenic non\u2010<jats:italic>KIT<\/jats:italic> mutations (86.7%) were found in paediatric patients with SM. In summary, we discovered a number of non\u2010<jats:italic>KIT<\/jats:italic> myeloid alterations in paediatric mastocytosis and which were more common in children with systemic disease. Variant allele frequency of many of these gene alterations was about 50% or 100%, suggesting germline in nature. The long\u2010term impact of these additional genetic alterations on disease course is uncertain at present and supports the need for assessment in long\u2010term follow\u2010up studies.<\/jats:p>","DOI":"10.1111\/bjh.20214","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T03:14:39Z","timestamp":1750302879000},"page":"455-462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis"],"prefix":"10.1111","volume":"207","author":[{"given":"Xiaoping","family":"Sun","sequence":"first","affiliation":[{"name":"Hematology Section, Department of Laboratory Medicine Clinical Center, National Institute of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4055-7391","authenticated-orcid":false,"given":"Chen","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Clinical Research National Institute of Allergy and Infectious Diseases, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean D.","family":"Metcalfe","sequence":"additional","affiliation":[{"name":"Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0379-5366","authenticated-orcid":false,"given":"Melody C.","family":"Carter","sequence":"additional","affiliation":[{"name":"Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Maric","sequence":"additional","affiliation":[{"name":"Hematology Section, Department of Laboratory Medicine Clinical Center, National Institute of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-09-731893"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22052586"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.05.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.04.024"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13567"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.10.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15624"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3504"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.281"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15266"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16795"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-04-496448"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018020628"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.00640"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2018886507"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(20)30400-2"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3696"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007936"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2023.04.011"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08827.x"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2010.03599.x"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.28614"},{"key":"e_1_2_9_27_1","unstructured":"rs3822214 RefSNP Report \u2013 dbSNP \u2013 NCBI [Internet]. 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