{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T09:29:20Z","timestamp":1786786160403,"version":"build-2736575974"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100008375","name":"University of Basel","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008375","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mast cell (MC) disorders result from inappropriate release of mediators and\/or excessive accumulation of MCs, leading to symptoms of various organs and systems. Clonal MC disorders are defined by the presence of phenotypically aberrant and\/or\n                    <jats:italic>KIT-<\/jats:italic>\n                    mutated MCs, and if aggregates of MCs are detectable, are designated as mastocytosis. Systemic mastocytosis (SM) affects mainly the bone marrow, with or without skin involvement. It is associated with the activating mutation D816V in the\n                    <jats:italic>KIT<\/jats:italic>\n                    gene. Other activating\n                    <jats:italic>KIT<\/jats:italic>\n                    gene variants are also observable in SM; activating\n                    <jats:italic>KIT<\/jats:italic>\n                    mutations are recognized as a minor diagnostic SM-criterion. We report a novel\n                    <jats:italic>KIT<\/jats:italic>\n                    variant in a patient with indolent SM, an in-frame deletion-insertion affecting amino acids D816 to N819 (D816_N819delinsll), creating an aliphatic pouch similar to that resulting from the D816V mutation, and leading to MC activation as suggested by the symptoms of the patient and the positivity for phosphorylated STAT5 in the clonal MCs.\n                  <\/jats:p>","DOI":"10.1007\/s00428-025-04237-9","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T04:45:14Z","timestamp":1756788314000},"page":"519-523","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report"],"prefix":"10.1007","volume":"489","author":[{"given":"Hazem A.","family":"Juratli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Wassmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darius","family":"Juskevicius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Alborelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Hartmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1100-3819","authenticated-orcid":false,"given":"Alexandar","family":"Tzankov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"4237_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/s41572-025-00611-8","volume":"11","author":"C Akin","year":"2025","unstructured":"Akin C, Arock M, Carter MC, George TI, Valent P (2025) Mastocytosis. Nat Rev Dis Primers 11:30. https:\/\/doi.org\/10.1038\/s41572-025-00611-8","journal-title":"Nat Rev Dis Primers"},{"key":"4237_CR2","unstructured":"Hochaus A (2025) Mastocytosis: introduction. In: Haematolymphoid Tumours Part A, WHO Classification of Tumours, 5th edn. WHO Press, Geneva, p 60"},{"key":"4237_CR3","first-page":"84","volume-title":"The International Consensus Classification of Myeloid and Lymphoid Neoplasms","author":"K Reichard","year":"2025","unstructured":"Reichard K, George TI, Leguit R et al (2025) Mastocytosis. In: Arber DA, Borowitz MJ, Cook JR et al (eds) The International Consensus Classification of Myeloid and Lymphoid Neoplasms. 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The patient has given written informed consent for publishing his case.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}