Sporadic Pediatric GIST With Novel Gene Mutation

Shagufta Jabeen, Jagannathan Krishnasamy, Sohail Iqbal, Andrew Fagbemi, Ross J Craigie


Advanced understanding of pathogenesis and tumor metabolism has increased the number of recently diagnosed gastrointestinal stromal tumors. We present a case of a young girl who attended our hospital with an episode of melena. Endoscopy revealed an irregular gastric lump with overlying ulceration. Following further investigation and biopsy, a gastrointestinal stromal tumor of the stomach was diagnosed and subsequently resected. Histopathology showed mixed type of epithelioid and spindle cells with exon 11 KIT mutations. Early diagnosis, prompt management, and long-term follow-up are the key prognostic determinants.

J Med Cases. 2013;4(11):722-725
doi: https://doi.org/10.4021/jmc1491w


Gastrointestinal stromal tumor; GIST; KIT mutation; Irregular gastric lump; Melena

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