Multiple gastrointestinal stromal tumors (GISTs) of the small intestine is an uncommon finding but can be a marker for underlying neurofibromatosis type 1 (NF1). We present the case of the 38-year-old male without prior NF1 diagnosis who presented with a small bowel obstruction. His physical exam was notable for cutaneous nodules and café-au-lait spots. He progressed to peritonitis and underwent an exploratory laparotomy, which revealed a 6-cm hemorrhagic mass along the antimesenteric border of the jejunum, causing obstruction and perforation. Pathology was consistent with GISTs. NF1-associated GISTs differ from wild-type GISTs in that they are unlikely to have C-KIT and PDGFRA mutations and therefore do not respond to imatinib. Treatment is largely limited to surgical resection; however, there is evidence that MEK inhibitors may prove an additional treatment strategy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.