{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:19:58Z","timestamp":1769606398917,"version":"3.49.0"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Program for the 2021 Zhejiang Provincial Traditional Chinese Medicine Scientific Research Fund Project","award":["2021ZB248"],"award-info":[{"award-number":["2021ZB248"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p> Eosinophilia may result from three main causes: secondary (reactive), primary (clonal), and\/or idiopathic. The diagnosis of idiopathic eosinophilia must be made based on excluding all reactive or clonal causes. However, some causes may be very rare so as to be misdiagnosed as idiopathic. We present the case of eosinophilia caused by aggressive systemic mastocytosis, originally recognized as idiopathic. Lymphadenopathy, dysmyelopoiesis, and hepatosplenomegaly gradually appeared and deteriorated with increasing eosinophils. This case carried KIT D816V mutation. The BCR::ABL fusion gene and the mutations in JAK2 V617F, PDGFR\u03b1, and PDGFR\u03b2 in bone marrow were all negative. PHF6, PPM1D, and TET2 mutations were demonstrable. The patient was prescribed to avapritinib. The condition was effectively controlled. However, the patient discontinued medication for economic reasons 5 months later. Disease progression happened and died 10 months after diagnosis. Our study indicates that gene mutation detection at diagnosis is helpful for patient accurate diagnosis and targeted therapy of such patients. <\/jats:p>","DOI":"10.1177\/2050313x231197322","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T12:30:30Z","timestamp":1693398630000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Eosinophilia in a patient with aggressive systemic mastocytosis harboring a <i>KIT<\/i> D816V mutation: A case report"],"prefix":"10.1177","volume":"11","author":[{"given":"Lihong","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5603-4160","authenticated-orcid":false,"given":"Hongyan","family":"Tong","sequence":"additional","affiliation":[{"name":"Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingqing","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjun","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Hematology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoming","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengli","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Radiology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Zhuji People\u2019s Hospital of Zhejiang Province, Shaoxing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4721-0016","authenticated-orcid":false,"given":"Jiayue","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Medical Affairs, Acornmed Biotechnology Co., Ltd., Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"bibr1-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14488"},{"key":"bibr2-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12916"},{"key":"bibr3-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26505"},{"key":"bibr4-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26118"},{"key":"bibr5-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24553"},{"key":"bibr6-2050313X231197322","unstructured":"Horny HP, Akin C, Arber DA, et al. Mastocytosis. Lyon: International Agency for Research on Cancer, 2017, pp.61\u201369."},{"key":"bibr7-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2007.03.015"},{"key":"bibr8-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0632-4"},{"key":"bibr9-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.24"},{"key":"bibr10-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018026245"},{"key":"bibr11-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.00640"},{"key":"bibr12-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aao1690"},{"key":"bibr13-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-021-01539-8"},{"key":"bibr14-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007539"},{"key":"bibr15-2050313X231197322","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22062983"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231197322","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X231197322","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231197322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T00:31:44Z","timestamp":1740875504000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X231197322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":15,"alternative-id":["10.1177\/2050313X231197322"],"URL":"https:\/\/doi.org\/10.1177\/2050313x231197322","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"2050313X231197322"}}