{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T14:08:22Z","timestamp":1780582102049,"version":"3.54.1"},"reference-count":7,"publisher":"SMC Media","issue":"6","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Neurofibromas are benign peripheral nerve sheath neoplasms composed of Schwann cells, fibroblasts, perineurial-like cells and axonal elements within a variably collagenous or myxoid stroma. They most commonly arise in the context of neurofibromatosis type 1 (NF1), an autosomal dominant tumour predisposition syndrome driven by inactivating mutations of the NF1 tumour suppressor gene. Isolated colorectal neurofibromas unassociated with syndromic disease are exceptionally rare, and their biological behaviour remains incompletely characterised. We report a case of a 26-year-old man presenting with non-specific abdominal pain who was found to have a solitary rectal submucosal lesion. Endoscopic resection was performed, and histopathologic and immunophenotypic evaluation confirmed the diagnosis of an isolated rectal neurofibroma. This case underscores the diagnostic and management challenges posed by these rare lesions and highlights unresolved questions regarding their molecular underpinnings and malignant potential.<\/jats:p>","DOI":"10.12890\/2026_006508","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T14:47:33Z","timestamp":1778856453000},"source":"Crossref","is-referenced-by-count":0,"title":["Isolated rectal neurofibroma in the absence of neurofibromatosis: report and review of molecular implications"],"prefix":"10.12890","volume":"13","author":[{"given":"Karam","family":"Karam","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Charro","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Alirkilicarslan","sequence":"first","affiliation":[{"name":"Department of Anatomical Pathology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Morini","sequence":"first","affiliation":[{"name":"Department of Anatomical Pathology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquot","family":"Rakotobe","sequence":"first","affiliation":[{"name":"Department of Radiology and Medical Imaging, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilien","family":"Brousset","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Locher","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Grand H\u00f4pital de l\u2019Est Francilien, Meaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2026,5,15]]},"reference":[{"key":"10.12890\/2026_006508_ref1","doi-asserted-by":"crossref","unstructured":"Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010;12:1\u201311. doi: 10.1097\/GIM.0b013e3181bf15e3","DOI":"10.1097\/GIM.0b013e3181bf15e3"},{"key":"10.12890\/2026_006508_ref2","doi-asserted-by":"crossref","unstructured":"Razek AAKA. MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neurol Sci 2018;39:821\u2013827. doi: 10.1007\/s10072-018-3284-7","DOI":"10.1007\/s10072-018-3284-7"},{"key":"10.12890\/2026_006508_ref3","doi-asserted-by":"crossref","unstructured":"Ricci R, Martini M, Cenci T, Carbone A, Lanza P, Biondi A, et al. PDGFRA-mutant syndrome. Mod Pathol 2015;28:954\u2013964. doi: 10.1038\/modpathol.2015.56","DOI":"10.1038\/modpathol.2015.56"},{"key":"10.12890\/2026_006508_ref4","doi-asserted-by":"crossref","unstructured":"Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010;152A:327\u2013332. doi: 10.1002\/ajmg.a.33139","DOI":"10.1002\/ajmg.a.33139"},{"key":"10.12890\/2026_006508_ref5","unstructured":"Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen\u2019s disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol 2012;5:852\u2013862."},{"key":"10.12890\/2026_006508_ref6","doi-asserted-by":"crossref","unstructured":"Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D, et al. Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg 2010;14:186\u2013194. doi: 10.1007\/s11605-009-0940-5","DOI":"10.1007\/s11605-009-0940-5"},{"key":"10.12890\/2026_006508_ref7","unstructured":"Keith AR, Albert R. A case of neurofibroma of the rectal wall. Tr Am Proct Soc 1937;38:68."}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6508\/5658","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6508\/5659","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6508\/5659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T13:50:21Z","timestamp":1780581021000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/6508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,15]]},"references-count":7,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.12890\/2026_006508","relation":{"has-manifestation":[{"id-type":"other","id":"1-169-6508-g5658","asserted-by":"subject"},{"id-type":"other","id":"1-169-6508-g5659","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-169","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,15]]}}}