Rapid diagnosis of combined multifocal gastrointestinal stromal tumours and coeliac disease in a patient with type 1 neurofibromatosis
A 65-year-old man with type 1 neurofibromatosis (NF) was referred to the gastroenterology out patient department with recurrent iron deficiency anaemia and a week long history of melaena. His past medical history included ischaemic heart disease, hypertension and asthma. Medications included aspirin and prasugrel. The only positive findings on physical examination were cutaneous neurofibromata.\nA serological, haematological screen and tumour markers were all within normal limits. Initial investigations included a gastroscopy, duodenoscopy and colonoscopy; none revealed a source for his anaemia. A small bowel capsule endoscopy (SBCE) revealed an atypical polypoid submucosal lesion in the proximal small bowel with surface ulceration (). An anterograde double balloon enteroscopy (DBE) confirmed the lesion; however, it was not amenable to tunnelled biopsy due to extensive surface ulceration. The location was marked with ink to help with subsequent laparoscopic localization. Incidentally, on DBE, there were features suggestive of coeliac disease, which was confirmed by jejunal biopsies (Marsh IIIa).\nA magnetic resonance enteroclysis (MRE) was requested prior to laparoscopy which detected a 3.8 × 3.3 cm suspicious soft tissue mass in the right upper quadrant arising from the small bowel (). He proceeded to a laparoscopic-assisted small bowel resection. A large lesion in the jejunum close to the ileum was resected, and multiple additional nodules along the surface of the jejunum were biopsied.\nHistologically, the largest tumour was 4.5 cm and a confirmed gastrointestinal stromal tumor (GIST). The expression of c-kit/CD117 and DOG-1 was demonstrated. The mitotic count was <1 per 50 high power fields. The proliferative rate as manifest by MIB-1 expression was <1%. No nodal metastases were noted. Biopsies of the separate nodules (1 cm and 7 mm) also showed GIST with low/absent mitoses.\nFollowing multidisciplinary team (MDT) review, the additional lesions were felt to represent multifocal disease rather than metastases. In accordance with international guidelines, Imatinib treatment was not commenced and regular surveillance was employed. A gluten-free diet (GFD) was commenced. Unfortunately, a follow-up surveillance computed tomography (CT), seven months after surgical resection, showed a 3.5 cm jejunal GIST, representing local disease progression.