Neurofibromatosis patient develops small bowel GIST.

The patient, aged 49 years, presented with mild abdominal pain, loose stools, vomiting, melena, and severe anemia (Hb- 4.6 gm/dl). The patient also had a significant past medical history of neurofibromatosis for 30 years and had a Hysterectomy about ten years ago. She was admitted to ICU and managed as GI bleed, with blood transfusion (1 unit PRBC transfused on day 1 of admission), and endoscopy investigations were organized. A CT scan of the abdomen and pelvis revealed a small bowel gastrointestinal stromal tumor (GIST) with necrotic areas and multiple calcifications, suggestive of a small bowel hemangioma/carcinoid. The patient continued to be observed in ICU, and both patient and family were counseled for a surgical procedure, laparotomy, and small bowel resection, with either an anastomosis or temporary small bowel stoma. On the day of surgery, the platelet count was 60,000 per microliter of blood. The patient and her family were counseled for a surgical procedure, laparotomy, and small bowel resection. She was discharged home on the 7th Postoperative day, and her hemoglobin was 9.6 gm/dl. Histopathology report of the resected small bowel lesion showed Spindle cell neoplasm, suggestive of GIST, spindle cell type. Further Immunohistochemistry markers (IHC) showed positive for CD117 and CD 34, with S-100 being negative. IHC is suggestive of small bowel gastrointestinal stromal tumor (GIST). The patient was followed up in the clinic 4 weeks after her discharge and had improved hemoglobin at 11.2 gm/dl and had a normal appetite and no further episodes of blood in her stools.