{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T19:51:20Z","timestamp":1784231480700,"version":"3.55.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T00:00:00Z","timestamp":1618876800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T00:00:00Z","timestamp":1618876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"publisher","award":["SZSM201612051"],"award-info":[{"award-number":["SZSM201612051"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Surg"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Gastrointestinal stromal tumors rarely occur in children, but when they do, their biological behavior and histopathological patterns differ from those of adults.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 13-year-old boy with a gastrointestinal stromal tumor was characterized by a rare genetic mutation. The patient complained of \u201cfatigue with intermittent abdominal pain for 1\u00a0month\u201d. According to the preoperative imaging examination, gastroscopy, and gastroscopic biopsy, the patient was diagnosed with a gastric stromal tumor. Postoperative pathology showed that the tumor cells were fusiform and ovoid, and mitotic figures were easily seen. Immunohistochemistry revealed that the tumor was S-100(+), SOX10(\u2212), CD34(+), SMA(partially+), DOG-1(+), CD117(+), KI-67 (positive for 20%\u2009+\u2009of the subjects and 40%\u2009+\u2009of the hotspots), and SDHB(\u2212). Genetic tests showed missense mutations in ALK and TSC1. With surgical treatment, the tumor was completely removed. The patient recovered well and was discharged on the ninth day after the operation. He is currently under follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In this case involving a patient with a gastrointestinal stromal tumor, immunohistochemistry indicated that the tumor was an \"SDH-deficient type\", and gene detection showed no KIT or PDGFRA mutation but rare ALK and TSC1 mutations, which adds to the knowledge of the types of gene mutations in children with gastrointestinal stromal tumors.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12893-021-01208-0","type":"journal-article","created":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T12:21:36Z","timestamp":1618921296000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mutations in ALK and TSC1 in a gastrointestinal stromal tumor: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Qingzhi","family":"Song","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuofei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Ao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianing","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4776-5898","authenticated-orcid":false,"given":"Guoqing","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,20]]},"reference":[{"key":"1208_CR1","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1146\/annurev-med-043010-091813","volume":"63","author":"H Joensuu","year":"2012","unstructured":"Joensuu H, DeMatteo RP. The management of gastrointestinal stromal tumors: a model for targeted and multidisciplinary therapy of malignancy. Annu Rev Med. 2012;63:247\u201358.","journal-title":"Annu Rev Med"},{"issue":"1","key":"1208_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s004280000338","volume":"438","author":"M Miettinen","year":"2001","unstructured":"Miettinen M, Lasota J. Gastrointestinal stromal tumors\u2013definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 2001;438(1):1\u201312.","journal-title":"Virchows Arch"},{"key":"1208_CR3","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/978-1-4939-7471-9_12","volume":"1706","author":"RK Ravi","year":"2018","unstructured":"Ravi RK, Walton K, Khosroheidari M. MiSeq: a next generation sequencing platform for genomic analysis. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"202"}}