ESPE Abstracts

Introduction: To investigate the association between Turners Syndrome (TS) and Gastrointestingal Stromal tumours (GIST) in a single case study. There is a known link between RASopathies such as TS and solid tumours (gonadoblastoma, neuroblastoma and brain tumours,) however no known link between TS and GIST. The aim is to increase awareness into a rare condition and discuss growth hormone (GH) therapy.

Case: An 11-year-old girl with background of TS presented due to acute large volume hematemesis and abdominal pain. Emergency department assessment revealed shock; tachycardia, pallor, peripherally shut down with prolonged capillary refill time. Apart from a recent cough she had no other symptoms. Past medical history included TS, cerebral palsy, autoimmune hypothyroid and surgically corrected scoliosis. Medication included oestrogen replacement, GH therapy and levothyroxine. Blood results showed a metabolic acidosis, raised lactate and acute kidney injury. Initial haemoglobin 142, this reduced to 99 following fluid resuscitation, requiring 40ml/kg total fluid bolus. Urgent CT abdomen with contrast showed a large extra luminal active bleed from the stomach causing massive haemorrhage. Emergency laparotomy found a ruptured 7cm exophytic tumour in the lesser curvature of the stomach that was completely excised with clear margins. Later histopathology confirmed this to be a GIST tumour.

Discussion: This case presents insight into a rare paediatric tumour in a patient with known TS. GIST in children are mesenchymal in origin and rare, typically presenting in the second decade with a female predominance. They can occur anywhere in the gastrointestinal tract with the stomach and small intestine being the most common sites of disease. Presentation is with anaemia from chronic blood loss, however acute haematemesis and melena is an unusual presentation and mandates the consideration for rare causes. There is differing histopathology between paediatric and adult GIST’s with the paediatric form typically being benign. In this instance tumour molecular analysis revealed the most common paediatric histopathology of a Wild type GIST. Growth hormone (GH) therapy is recommended for Turners syndrome if proven GH deficient. Large-scale studies have shown an association between GH therapy and secondary malignancies on GH supra-physiological doses. In this case supra-physiological GH treatment was withheld and monitored for reoccurrence with a risk from pyloric perforation and potential for peritoneal seeding of tumour cells. There is an increased risk of certain solid tumours in TS with no documented risk associated with rarer GISTs; it is an interesting case to document for future incidence.