{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:27Z","timestamp":1756425807006,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,10]]},"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>We report the case of a 27-year-old female patient from sub-Saharan Africa who presented with non-specific abdominal complaints, iron deficiency anaemia and multiple, large intra-abdominal cystic lesions on imaging. The lesions appeared to be a most unusual presentation of gastrointestinal stromal tumour (GIST). GIST is a sarcomatous tumour that comprises only 0.2% of all gastrointestinal (GI) tumours; it is the most common mesenchymal malignancy of the GI tract. Our patient had the succinate dehydrogenase-deficient (SDHD) subtype, identified in some 5%\u201310% of patients with GIST only, commonly found in women and younger patients. The differential diagnosis of intra-abdominal cystic lesions is briefly discussed, including the relevance of a correct pathological diagnosis. This impacts medical and surgical management decisions, including predicting response to targeted therapy. Tyrosine kinase inhibitor therapy has been a breakthrough in the treatment of GISTs, although with extensive disease, and certainly in case of the SDHD subtype, long-term outcome remains disappointing.<\/jats:p>","DOI":"10.1136\/bcr-2021-242146","type":"journal-article","created":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T12:55:18Z","timestamp":1631624118000},"page":"e242146","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Multiple, large intra-abdominal cystic lesions and iron deficiency anaemia as the presenting symptoms of SDHD gastrointestinal stromal tumour (GIST) in a young sub-Saharan woman"],"prefix":"10.1136","volume":"14","author":[{"given":"Lieve Darlene","family":"Nyenyeri","sequence":"first","affiliation":[{"name":"Internal Medicine, Centre Hospitalier Universitaire de Kigali, Kigali, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reverien","family":"Niyomwungeri","sequence":"additional","affiliation":[{"name":"Internal Medicine, Centre Hospitalier Universitaire de Kigali, Kigali, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirk J","family":"van Leeuwen","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology, Dartmouth College, DHMC, Hanover, New Hampshire, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deo","family":"Ruhangaza","sequence":"additional","affiliation":[{"name":"Anatomical Pathology, Butaro Hospital, Burera, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,9,14]]},"reference":[{"key":"2025082801453991000_14.9.e242146.1","doi-asserted-by":"publisher","DOI":"10.1148\/radiographics.20.3.g00ma06795"},{"key":"2025082801453991000_14.9.e242146.2","doi-asserted-by":"publisher","DOI":"10.3348\/kjr.2010.11.4.457"},{"key":"2025082801453991000_14.9.e242146.3","doi-asserted-by":"crossref","unstructured":"De Vogelaere K , Meert V , Vandenbroucke F . Case report unusual appearance of a Pendulated gastric tumor: always think of GIST. 2012, 2012.","DOI":"10.1155\/2012\/815941"},{"key":"2025082801453991000_14.9.e242146.4","doi-asserted-by":"crossref","unstructured":"Khurram MS . 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Succinate dehydrogenase-deficient gastrointestinal stromal tumors: small steps toward personalized medicine? 2019: 0\u20133.","DOI":"10.1177\/2516865719842534"},{"key":"2025082801453991000_14.9.e242146.17","first-page":"6","article-title":"Atypical presentation of gastrointestinal stromal tumor as multiple intra-abdominal cysts: a case report","volume":"12","author":"Gurram","year":"2020","journal-title":"Cureus"},{"key":"2025082801453991000_14.9.e242146.18","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13045-020-01026-6","article-title":"The management of metastatic GIST: current standard and investigational therapeutics","volume":"14","author":"Kelly","year":"2021","journal-title":"J Hematol Oncol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:45:48Z","timestamp":1756370748000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":18,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9,14]]},"published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1136\/bcr-2021-242146"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242146","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,9]]}}}