Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

摘要

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. Teaching Points ? Neurofibromatosis type?(NF-1) is one of the most common single gene disorders. ? Every organ system can be involved and intra-abdominal manifestations are underestimated. ? The NF1 abdominal manifestations comprehend five categories of tumours. ? Neurogenic tumours including with neurofibromas are the most common type. ? Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.