{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:47:20Z","timestamp":1776898040016,"version":"3.51.2"},"reference-count":21,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Gastroenterol"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Gastrointestinal stromal tumors (GISTs) are the most common soft tissue tumors of the digestive tract, originating from the interstitial cells of Cajal (ICCs). They are typically characterized by mutations in KIT or PDGFRA genes. However, a subset of GISTs lacks these mutations and has been associated with alternative molecular events. This study presents a case of micro-GIST with a BRAF mutation within a leiomyoma, a rare occurrence with only one previous case reported in the literature involving a C-KIT mutation.<\/jats:p>\n                  <jats:p>A 60-year-old female patient was diagnosed with a gastric submucosal tumor following gastroscopy and upper abdominal ultrasound examinations. The tumor, measuring 1.6 cm \u00d7 1.2 cm, was resected via laparoscopic wedge resection. Histological examination revealed a region within the tumor with higher cell density and distinctive cytological features, consistent with GIST. Immunohistochemical analysis confirmed an ICC-like phenotype in this region. NGS identified a BRAF mutation in the dense intermediate cells, while no mutations were found in the surrounding typical leiomyoma region. The patient remained in a satisfactory condition post-surgery.<\/jats:p>\n                  <jats:p>This case report describes the first documented micro-GIST with a BRAF mutation arising in a leiomyoma, highlighting the importance of molecular detection in the differential diagnosis of GISTs.<\/jats:p>","DOI":"10.1055\/a-2790-2626","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:31:27Z","timestamp":1776897087000},"page":"366-371","source":"Crossref","is-referenced-by-count":0,"title":["Micro-GIST with BRAF mutation arising in a Leiomyoma: a rare case report and literature review"],"prefix":"10.1055","volume":"64","author":[{"given":"Chunnian","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pathology, Ningbo Clinical Pathology Diagnosis Center, Ningbo City, Zhejiang Province, China"},{"name":"Department of Pathology, Ningbo Medical Centre Lihuili Hospital, Ningbo City, Zhejiang Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruibing","family":"Su","sequence":"first","affiliation":[{"name":"Shantou University Medical College, Shantou City, Guangdong Province, China"},{"name":"The Second Affiliated Hospital of Shantou University Medical College, Shantou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ningbo Clinical Pathology Diagnosis Center, Ningbo City, Zhejiang Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuanhao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Biobank, Shantou Central Hospital, Guangdong Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xifeng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Biobank, Shantou Central Hospital, Guangdong Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.5858\/arpa.2011-0022-RA","article-title":"Gastrointestinal stromal tumor: advances in diagnosis and management","volume":"135","author":"DT Patil","year":"2011","journal-title":"Archives of pathology & laboratory medicine"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1136\/jcp.2009.064550","article-title":"V600E BRAF mutations are alternative early molecular events in a subset of KIT\/PDGFRA wild-type gastrointestinal stromal tumours","volume":"62","author":"A Agaimy","year":"2009","journal-title":"Journal of clinical pathology"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1111\/pin.13301","article-title":"A wolf in sheep\u2019s clothing: A microscopic gastrointestinal stromal tumor arising in gastric leiomyoma","volume":"73","author":"CY Huang","year":"2023","journal-title":"Pathology international"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.soc.2022.03.007","article-title":"Gastrointestinal Stromal Tumor: New Insights for a Multimodal Approach","volume":"31","author":"AK Sharma","year":"2022","journal-title":"Surgical oncology clinics of North America"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1001\/jamasurg.2016.5047","article-title":"Surgical Management of Adolescents and Young Adults With Gastrointestinal Stromal Tumors: A US Population-Based Analysis","volume":"152","author":"KE Fero","year":"2017","journal-title":"JAMA surgery"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1038\/modpathol.3880417","article-title":"Mesenchymal tumors of muscularis mucosae of colon and rectum are benign leiomyomas that should be separated from gastrointestinal stromal tumors \u2013 a clinicopathologic and immunohistochemical study of eighty-eight cases","volume":"14","author":"M Miettinen","year":"2001","journal-title":"Modern pathology: an official journal of the United States and Canadian Academy of Pathology, Inc"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"411","DOI":"10.12816\/0003165","article-title":"Interstitial Cells of Cajal: Pathology, injury and repair","volume":"12","author":"D Al-Sajee","year":"2012","journal-title":"Sultan Qaboos University medical journal"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"x280","DOI":"10.1093\/annonc\/mdl274","article-title":"Gastrointestinal stromal tumor (GIST)","volume":"17","author":"H Joensuu","year":"2006","journal-title":"Annals of oncology : official journal of the European Society for Medical Oncology"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1097\/PAS.0b013e31815c0417","article-title":"Microscopic gastrointestinal stromal tumors in esophageal and intestinal surgical resection specimens: a clinicopathologic, immunohistochemical, and molecular study of 19 lesions","volume":"32","author":"A Agaimy","year":"2008","journal-title":"The American journal of surgical pathology"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"1480","DOI":"10.1097\/PAS.0b013e3181ef7431","article-title":"Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size","volume":"34","author":"S Rossi","year":"2010","journal-title":"The American journal of surgical pathology"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"2261","DOI":"10.1002\/ijc.22144","article-title":"Raf kinases: oncogenesis and drug discovery","volume":"119","author":"R Schreck","year":"2006","journal-title":"International journal of cancer"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/sj.bjc.6603291","article-title":"Sorafenib in advanced melanoma: a Phase II randomised discontinuation trial analysis","volume":"95","author":"T Eisen","year":"2006","journal-title":"British journal of cancer"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.humpath.2017.01.005","article-title":"Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT\/PDGFRA wild-type GISTs are rare events","volume":"62","author":"S Huss","year":"2017","journal-title":"Human pathology"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1038\/s41572-021-00254-5","article-title":"Gastrointestinal stromal tumours","volume":"7","author":"JY Blay","year":"2021","journal-title":"Nature reviews Disease primers"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1007\/s00595-007-3535-3","article-title":"The outcome of gastrointestinal stromal tumors (GISTs) after a surgical resection in our institute","volume":"37","author":"K Tsukuda","year":"2007","journal-title":"Surgery today"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"310","DOI":"10.18632\/oncotarget.864","article-title":"BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance","volume":"4","author":"GS Falchook","year":"2013","journal-title":"Oncotarget"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/s41571-022-00606-4","article-title":"New treatment strategies for advanced-stage gastrointestinal stromal tumours","volume":"19","author":"LR Klug","year":"2022","journal-title":"Nat Rev Clin Oncol"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1002\/gcc.22991","article-title":"Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls","volume":"60","author":"D Torrence","year":"2021","journal-title":"Genes, chromosomes & cancer"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1097\/00000478-200002000-00007","article-title":"Esophageal stromal tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas","volume":"24","author":"M Miettinen","year":"2000","journal-title":"The American journal of surgical pathology"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"438","DOI":"10.3760\/cma.j.issn.0529-5807.2018.06.010","article-title":"Gastrointestinal leiomyoma with interstitial cells of Cajal: mimicker of gastrointestinal stromal tumor","volume":"47","author":"GM Hu","year":"2018","journal-title":"Zhonghua bing li xue za zhi = Chinese journal of pathology"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2020.151476","article-title":"Clinicopathologic and immunohistochemical characteristics of upper gastrointestinal leiomyomas harboring interstitial cells of Cajal: A potential mimicker of gastrointestinal stromal tumor","volume":"45","author":"O Ta\u015fk\u0131n","year":"2020","journal-title":"Annals of diagnostic pathology"}],"container-title":["Zeitschrift f\u00fcr Gastroenterologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2790-2626.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:31:40Z","timestamp":1776897100000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2790-2626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":21,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2026,4,22]]},"published-print":{"date-parts":[[2026,4]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2790-2626","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0044-2771","1439-7803"],"issn-type":[{"value":"0044-2771","type":"print"},{"value":"1439-7803","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]}}}