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Int J Clin Exp Pathol 2012;5(9):852-862

Review Article
Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen’s disease):
clinicopathological spectrum with pathogenetic considerations

Abbas Agaimy, Nikolaos Vassos, Roland S Croner

Institute of Pathology and Department of Surgery, University Hospital, Erlangen, Germany

Received August 24, 2012; Accepted October 1, 2012; Epub October 20, 2012; Published October 30, 2012

Abstract: Neurofibromatosis type 1 (NF-1, Recklinghausen disease) is the most common hereditary multitumor syndrome with an incidence at
birth of approximately 1:3000. However, the significant variation in the expression of the disease not infrequently precludes early diagnosis. As
a consequence of non-familiarity with their frequency and wide clinicopathological spectrum, gastrointestinal manifestations of NF-1 are
seldom thought of in routine clinical practice and might thus be significantly under-recognized. Their heterogeneous spectrum ranges from
localized microscopic proliferative lesions of autonomic nerves and interstitial cells of Cajal and diffuse microscopic ganglio/
neuro/fibromatosis to grossly recognizable mass-forming neurofibromas and gastrointestinal stromal tumors (GIST). Furthermore,
neuroendocrine neoplasms, particularly of the periampullary duodenum seem to be quite characteristic of this disease. Based on our own
experience and the available literature, this review summarizes and discusses the clinicopathological spectrum of gastrointestinal
manifestations of NF-1 including putative proliferative precursor lesions with emphasis on the differential diagnostic aspects of these
disorders and their molecular pathogenesis. In addition, this review underlines the great value of specific gastrointestinal findings in
uncovering undiagnosed or missed NF-1 cases. (IJCEP1208022)

Keywords: NF-1, Recklinghausen disease, GIST, gastrointestinal stromal tumor, neurofibromatosis, neuroendocrine tumor

Address all correspondence to:
Dr. Abbas Agaimy
Institut für Pathologie, Universitätsklinikum
Krankenhausstrasse 8-10, 91054 Erlangen
Tel: +49-9131-8522288; Fax: +49-9131-8524745
E-mail: abbas.agaimy@uk-erlangen.de