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

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 t...

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Bibliographic Details
Published in:BMJ case reports 2021-09, Vol.14 (9), p.e242146
Main Authors: Nyenyeri, Lieve Darlene, Niyomwungeri, Reverien, van Leeuwen, Dirk J, Ruhangaza, Deo
Format: Article
Language:English
Subjects:
Abdomen
Anemia
Biopsy
Blood pressure
Blood tests
Cancer therapies
Case Report
Case reports
Chemotherapy
Cysts
Dehydrogenases
Gastric cancer
Gastrointestinal cancer
Liver
Medical imaging
Mesothelioma
Metastasis
Middle age
Mutation
Patients
Tumors
Vascular endothelial growth factor
Womens health
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Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2021-242146