{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:33:25Z","timestamp":1791232405830,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,4,28]],"date-time":"2012-04-28T00:00:00Z","timestamp":1335571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Objective:\u2002<\/jats:bold> Most patients with systemic mastocytosis bear mutations in the tyrosine kinase receptor gene <jats:italic>c\u2010Kit<\/jats:italic>. Limited treatment options exist for mast cell leukemia, a rare form of systemic mastocytosis associated with a dire prognosis. Our aim was to investigate <jats:italic>c\u2010Kit<\/jats:italic> mutations associated with mast cell leukemia and find new treatment for this severe form of mastocytosis.<\/jats:p><jats:p><jats:bold>Patient and methods:\u2002<\/jats:bold> We describe here a patient with mast cell leukemia characterized by 42% of circulating mast cells associated with a previously unidentified <jats:italic>c\u2010Kit<\/jats:italic> mutation in adult mastocytosis: dup(501\u2010502).<\/jats:p><jats:p><jats:bold>Main findings:\u2002<\/jats:bold> This patient was treated with masitinib, a novel c\u2010Kit tyrosine kinase inhibitor, with a dramatic response observed following 3\u2003months of treatment, including clinical improvement, disappearance of circulating mast cells, and decrease in both serum histamine and tryptase levels. <jats:italic>In vitro<\/jats:italic> and <jats:italic>ex vivo<\/jats:italic> research was performed on the patient\u2019s cells and revealed constitutive c\u2010Kit phosphorylation in mast cell leukemia.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> This case highlights the importance of sequencing all <jats:italic>c\u2010Kit<\/jats:italic> exons when the classical D816V <jats:italic>c\u2010Kit<\/jats:italic> mutation is not found, even in adults with SM. It also indicates that masitinib may be safe and effective for the treatment for some mast cell leukemia.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2012.01761.x","type":"journal-article","created":{"date-parts":[[2012,2,11]],"date-time":"2012-02-11T15:23:27Z","timestamp":1328973807000},"page":"47-52","source":"Crossref","is-referenced-by-count":48,"title":["Mast cell leukemia: identification of a new <i>c\u2010Kit<\/i> mutation, dup(501\u2010502), and response to masitinib, a c\u2010Kit tyrosine kinase inhibitor"],"prefix":"10.1111","volume":"89","author":[{"given":"Sophie","family":"Georgin\u2010Lavialle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"Lhermitte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Suarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Letard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Hanssens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Feger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9d\u00e9e","family":"Renand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Brouze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Canioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Asnafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Olivia","family":"Chandesris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achille","family":"Aouba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gineste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Macintyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin D.","family":"Mansfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Moussy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Lepelletier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Dubreuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Hermine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,28]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(85)80252-5"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1979.tb03017.x"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12468882"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2007.01807.x"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(01)00038-8"},{"key":"e_1_2_8_7_2","volume-title":"Mastocytosis (Mast cell disease). 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