1999 Jejunal GIST: An Unusual Cause of Acute Massive Gastrointestinal Bleeding

Abstract

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are rare, making up 0.1–3% of all gastrointestinal (GI) tumors. While most commonly found in the stomach, GISTs in jejunum are among the rarest subtypes. The majority of GISTs present with occult GI hemorrhage. Here we present a case of massive GI bleeding due to a jejunal GIST in a young woman with BRCA2 gene mutation. CASE DESCRIPTION/METHODS: A 30-year-old woman presented with 1 day of melena and symptomatic anemia. Medical history was notable for BRCA2 gene mutation. Family history was significant for colon cancer in her maternal grandfather and breast cancer in her maternal aunt. On admission, there was melena in the rectal vault and her abdomen was soft, non-tender with no palpable masses. She was anemic with hemoglobin 6.8 g/dL. Emergent EGD revealed no blood or source of bleeding identified. After a rapid bowel preparation, an urgent colonoscopy showed melena in the entire colon and examined terminal ileum, however no culprit lesion was identified. Patient was hemodynamically unstable subsequently so an urgent computed tomography angiogram was performed and revealed active GI bleeding from the jejunal artery. A 3.1 × 2.2 cm mass with peripheral hemorrhage in the left upper quadrant was seen. The patient then underwent emergent embolization of two jejunal branches. An exploratory laparotomy was subsequently performed with resection of a proximal jejunal mass. Histology confirmed a spindle-cell GIST with positive staining for c-kit (CD117). Given the size, low-grade, and mitotic rate of 1/50 high-power field, no adjuvant therapy was needed. Magnetic resonance imaging surveillance was recommended. DISCUSSION: Bleeding jejunal GIST is a rare cause of acute massive GI bleeding. GISTs can be particularly difficult to diagnose because of their endoscopic inaccessibility. The majority of GISTs are thought to be a result of activating mutations of proto-oncogenes c-KIT (CD117) or PDGFR-alpha. These then increase tyrosine kinase receptor activity and result in the proliferation of stem cells. No reports yet suggest a direct association between a BRCA2 germline mutation and small bowel neoplasms. This case highlights a dramatic presentation of massive hemorrhage from a GIST, especially when confined to the small bowel. Further studies are needed to establish whether an association exists between BRCA mutations and GIST as well as other small bowel neoplasms.