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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
  1. Nyenyeri Lieve Darlene1,
  2. Niyomwungeri Reverien1,
  3. Dirk J J van Leeuwen2 and
  4. Deo Ruhangaza3
  1. 1Internal Medecine, Centre Hospitalier Universitaire de Kigali, Kigali, Rwanda
  2. 2Gastroenterology Hepatology Education Ethics/Law, Dartmouth College, Hanover, New Hampshire, USA
  3. 3Anatomical Pathology, Butaro Hospital, Burera, Rwanda
  1. Correspondence to Dr Nyenyeri Lieve Darlene; nyedarly{at}gmail.com

Abstract

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%–10% 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.

  • chemotherapy
  • gastric cancer
  • cancer intervention

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Footnotes

  • Contributors NLD is the author of the manuscript, has managed and followed up the patient. NR is the coauthor, contributed in writing process of this article. DJJvL is the supervisor and was a major contributor in the writing process of this article. DR performed the histological examination and provided the slides after second opinion in the Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School and at Dartmouth-Hitchcock Medical Center (Lebanon NH).

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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