Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofibromatosis type 1: Immunohistochemical and ultrastructural evaluation

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Abstract
Summary Neurofibromatosis type 1 could be associated with multiple gastrointestinal stromal tumours, although their presence is not considered among the major diagnostic criteria. We present here a case of a 50-year-old female complaining of abdominal pain, with about 100 small intestinal stromal tumours. This finding prompted us to suspect a neurofi-bromatosis which was clinically confirmed afterwards. Light microscopy examination revealed a low-grade stromal tumour with skeinoid fibres. Mixed neural-interstitial cells of Cajal origin or, alternatively, neural differentiation of interstitial cells of Cajal are discussed on the basis of immuno-phenotype (CD117 +, CD34 +) and ultrastructure. A 2-year follow-up did not indicate an aggressive course in the case of this neoplasm