{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:34:34Z","timestamp":1791858874744,"version":"4.3.4"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T00:00:00Z","timestamp":1686614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Gastrointestinal stromal tumors are the most common mesenchymal tumors of the digestive tract, most of which are sporadic, and familial GISTs with germline mutations are rarely seen. Here, we report a 26-year-old female with a germline p. W557R mutation in exon 11 of the KIT gene. The proband and her father and sister presented with multifocal GIST and pigmented nevi. All 3 patients underwent surgery and imatinib therapy. To date, only 49 kindreds with germline KIT mutations and 6 kindreds with germline PDGFRA mutations have been reported. Summarizing the reported kindreds, the majority of familial GISTs manifest as multiple primary GISTs complicated with special clinical manifestations, including cutaneous hyperpigmentation, dysphagia, mastocytosis, inflammatory fibrous polyps, and large hands. Familial GISTs are generally thought to exhibit TKI sensitivity similar to that of sporadic GISTs with the same mutation.<\/jats:p>","DOI":"10.1093\/oncolo\/oyad168","type":"journal-article","created":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T18:04:44Z","timestamp":1686679484000},"page":"e1134-e1141","source":"Crossref","is-referenced-by-count":5,"title":["Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review"],"prefix":"10.1093","volume":"28","author":[{"given":"Miao","family":"Yan","sequence":"first","affiliation":[{"name":"Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University , Guangzhou , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianghua","family":"Lin","sequence":"additional","affiliation":[{"name":"Zhongshan School of Medicine, Sun Yat-Sen University , Guangzhou , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Pathology, The First Affiliated Hospital of Sun Yat-Sen University , Guangzhou , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanji","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Radiology, The First Affiliated Hospital of Sun Yat-Sen University , Guangzhou , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaiyu","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University , Guangzhou , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaohua","family":"Yang","sequence":"additional","affiliation":[{"name":"Center of Digestive Disease, The Seventh Affiliated Hospital of Sun Yat-Sen University , Shenzhen , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3155-7114","authenticated-orcid":false,"given":"Xinhua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University , Guangzhou , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,6,13]]},"reference":[{"issue":"9896","key":"2023122612563105700_CIT0001","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0140-6736(13)60106-3","article-title":"Gastrointestinal stromal tumour","volume":"382","author":"Joensuu","year":"2013","journal-title":"Lancet"},{"issue":"2","key":"2023122612563105700_CIT0002","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1200\/JCO.2017.74.9705","article-title":"Gastrointestinal stromal 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