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

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.

Gastrointestinal Stromal Tumor (GIST): About 3 Cases

“…The management of patients with gastrointestinal stromal tumors (GISTs) involves a multidisciplinary team that includes pathologists, medical oncologists, surgeons, anaesthesiologists, and imaging experts. Four standard treatment approaches are utilized: [5,10,12].…”

“…The goal of surgery is complete resection with an intact pseudo-capsule and negative microscopic margins. The type of surgery depends on the size and location of the tumor in the GI tract: [4,6,12].…”

“…Tumors in the small and large bowel typically require bowel anastomosis after resection, which can be performed using intracorporal or extracorporeal suturing or stapling. [5,6,9,12].…”

“…Survival Rates: The five-year relative survival rate for localized GISTs is 95%. For GISTs that have spread to distant parts of the body, the five-year survival rate is 40-50% [12,14,15,11].…”

Gastric succinate dehydrogenase‐deficient gastrointestinal stromal tumor presenting as a solitary cystic lesion

“…A case of SDHdeficient GIST with multiple entirely cystic lesions has been reported; however, the reported case showed multiple lesions similar to the usual SDH-deficient GIST. 4 One study regarding GISTs with remarkable cystic changes revealed that nine cases out of 20 cases did not harbor KIT or PDGFR-α mutations. 5 Although SDH deficiency was not investigated in the study, 5 some of such KIT-negative GISTs with remarkable cystic changes might be SDH-deficient GISTs.…”