{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T22:32:19Z","timestamp":1767825139430,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,10,16]],"date-time":"2013-10-16T00:00:00Z","timestamp":1381881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2014,1]]},"abstract":"Aims<\/jats:title>Mastocytosis is an abnormal mast cell proliferation involving one or more organs, in particular the skin and bone marrow. In children, disease is usually limited to the skin, with three distinct clinical presentations: urticaria pigmentosa, diffuse cutaneous mastocytosis and solitary mastocytoma. Although the KIT<\/jats:styled-content><\/jats:italic> D<\/jats:styled-content>816V<\/jats:styled-content> mutation is typically found in adult\u2010onset mastocytosis, it is less commonly seen in childhood\u2010onset mastocytosis, and the frequency of KIT<\/jats:styled-content><\/jats:italic> mutations in paediatric solitary mastocytoma is poorly documented.<\/jats:p><\/jats:sec>Methods and results<\/jats:title>In this study we analysed KIT<\/jats:styled-content><\/jats:italic> exons 8, 9, 11, 13 and 17 in nine cases of paediatric solitary mastocytoma using a laboratory\u2010developed S<\/jats:styled-content>anger sequencing assay. A KIT<\/jats:styled-content><\/jats:italic> mutation was identified in six cases (67%), including three with the D<\/jats:styled-content>816V<\/jats:styled-content> mutation typical of adult\u2010onset disease, and another three with an internal tandem duplication (p.A<\/jats:styled-content>502_Y<\/jats:styled-content>503dup) in exon 9, previously described in gastrointestinal stromal tumour.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Paediatric solitary mastocytoma is frequently associated with KIT<\/jats:styled-content><\/jats:italic> activating mutations, in keeping with a clonal process. KIT<\/jats:styled-content><\/jats:italic> mutational status appears insufficient to explain the divergent biology of childhood and adult\u2010onset disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.12212","type":"journal-article","created":{"date-parts":[[2013,6,24]],"date-time":"2013-06-24T10:36:38Z","timestamp":1372070198000},"page":"218-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Identification of KIT<\/scp><\/i> activating mutations in paediatric solitary mastocytoma"],"prefix":"10.1111","volume":"64","author":[{"given":"Deqin","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics University of Iowa Carver College of Medicine Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron A","family":"Stence","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics University of Iowa Carver College of Medicine Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron B","family":"Bossler","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics University of Iowa Carver College of Medicine Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason R","family":"Hackman","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics University of Iowa Carver College of Medicine Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew M","family":"Bellizzi","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics University of Iowa Carver College of Medicine Iowa City IA 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