Obscure gastrointestinal bleeding in a patient with neurofibromatosis type 1

• DOI: 10.1111/ans.17573
• Publication Date: 2022-02-25T08:54:08Z
• Authors: Ashok Gunawardene; Jesse Fischer
• Keywords: Ileus; Gastrointestinal bleeding; Neurofibromatosis type I

A 54 year old man with neurofibromatosis type 1 (NF-1) presented to the emergency department following four episodes of painless rectal bleeding altered blood passed. Past history includes right adrenalectomy for phaeochromocytoma, a left optic nerve glioma and sciatica, which he takes diclofenac regularly. The patient was not haemodynamically compromised pressure 154/96 mmHg initial haemoglobin 162 g/L, falling 74 g/L fluid resuscitation. Urgent upper gastrointestinal endoscopy showed no source further occurred in hospital. had undergone colonoscopy within last 2 years without abnormality, consideration his diagnosis NF-1, outpatient CT enterography arranged. This demonstrated hypervascular nodules small bowel, including 3.5 cm lesion quadrant 3.0 central abdomen (Fig. 1). Following discussion multidisciplinary forum, bowel resection recommended. At laparotomy, over 20 were identified bowel. Two large mural noted mid-jejunum 2) consistent dominant lesions seen on imaging, resected along number adjacent lesions. With two primary anastomoses formed. largest exophytic also excised resulting seromuscular defects repaired 3–0 PDS sutures. remaining sub-centimetre excised. discharged post-operative day five after short period ileus requiring nasogastric decompression. Pathological examination revealed multiple well-circumscribed formed by spindle cell proliferation background collagen subserosal fat layer 3). cells bland nuclei, stained positive CD 117 DOG1, stromal tumours (GISTs). very low replication index Ki 67 staining. Neurofibromatosis is an autosomal inherited condition that results from loss-of-function mutation NF-1 gene encodes Neurofibromin.1, Gastrointestinal (GISTs), arising Interstitial Cajal,3 show association NF1, estimated lifetime risk 7% among patients NF-1.4 While sporadic GISTs occur most frequently stomach (70% cases), NF1-associated (NF1-GISTs) bowel5 exhibit other distinct phenotypic features.6 These include tendency be multiple, spindle-cell have mitotic rate,6, 7 all features case reported. Risk factors disease progression non-gastric site, increasing size rate greater than 5 mitoses per 50 high power fields.8 indication surgery this bleeding; secondary indications obtain histological prevent tumour progression. Although we could certain caused patient's bleeding, lesions, intra-mural. We sampled assessment. resecting extensive resection, outweighed benefit due indolent nature GISTs, especially patients. does however raise question how best monitor both residual new In instance elected perform magnetic resonance 12 months post-operatively, expectation surveillance intervals increased if there radiological or clinical concern at time. optimal interval should tailored individual based histology, taking into account rate. stratification models exist assist this, National Institute Health (NIH).9 Tyrosine kinase inhibitors such as imatinib revolutionized medical management but are dependent c-Kit/PDGFRA mutations effective.10 molecular analysis NF1-GISTs, observed 8% patients, stark contrast 80–90% GISTs.10 Mutational performed, may indicated.8 summary, GIST important differential obscure NF-1. possess unique characteristics compared particularly nature. Treatment given when question, symptoms obstruction occur, cross sectional imaging. gave consent writing-up report. Open access publishing facilitated University Auckland, part Wiley - Auckland agreement via Council Australian Librarians. Ashok Gunawardene: Conceptualization; writing. Jesse Fischer: