An unusual case of anaemia and dyspnoea

A 10‐year‐old boy presented to hospital with a 4‐week history of lethargy and dyspnoea. There was no definite history of gastrointestinal bleeding. On examination, the patient was pale and breathless, with a soft abdomen and no palpable masses. Laboratory results showed microcytic anaemia, with a haemoglobin concentration of 4.7 g/dl and a mean corpuscular volume of 81.9. All other blood tests were normal, including B₁₂, folate, tumour markers and coeliac screen. An upper gastrointestinal endoscopy was carried out (fig 1), which showed a smooth mass at the antrum of the stomach at the level of the incisura. A biopsy of the lesion was performed at endoscopy.

Figure 1 Upper gastrointestinal endoscopy showed a smooth mass at the antrum of the stomach.

Histological examination showed a mixed epitheloid and spindle cell tumour, with a varied mitotic index but no mucosal invasion, confined to the gastric wall. These pathological findings were consistent with a gastrointestinal stromal tumour (GIST) with malignant potential. Immunohistochemistry was positive for vimentin, CD34 and CD117.

The GIST group comprises tumours arising from the mesenchyma of the gastrointestinal tract; they occupy an independent group of digestive tract tumours based on their immunohistochemical properties.¹ There is an almost universal (>95%) expression of the CD117 antigen (part of the transmembrane tyrosine kinase receptor involved in cell growth and interaction).

Although predominantly a tumour presenting in the sixth and seventh decades, they rarely present in children. Symptoms include gastrointestinal bleeding, anaemia, abdominal pain and discomfort with or without a palpable mass. Although most GISTs display a benign pattern of behaviour, predicting their clinical course is difficult.²