Isolated Rectal Neurofibroma: A Case Report and Literature Review

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Jul 29

PMID 39070511

Authors

Zhexiang He

Shuja Khan

Arthur Slaton

Affiliations

Soon will be listed here.

Abstract

Neurofibromas are considered benign peripheral nerve sheath tumors containing Schwann cells, fibroblasts, and perineurial cells. They are commonly associated with familial disorders. Isolated colonic neurofibromas are very rare. In this report, we discuss a case of a patient who presented to the gastroenterology clinic with a week-long occurrence of abdominal pain and bleeding. She underwent a colonoscopy in which three sentinel polyps of benign appearance, ranging in size from 4 mm to 10 mm, were removed during the procedure. The pathology report indicated that the distal rectal polyp contained a submucosal neurofibroma with SOX10+, desmin-, CD117-, DOG1-, CD34+. While NF1-associated neurofibromas harbor the risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs), the malignancy potential for isolated colonic neurofibromas remains uncertain due to their rarity. The clinical significance of isolated colonic neurofibromas is yet to be defined; therefore, the optimal management strategy remains uncertain. Close monitoring is advocated to both exclude the possibility of neurofibromatosis and be vigilant about the risk of malignant transformation.

References

Chelimilla H, Chandrala C, Niazi M, Kumbum K . Incidental finding of isolated colonic neurofibroma. Case Rep Gastroenterol. 2013; 7(3):369-75. PMC: 3806709. DOI: 10.1159/000355163. View

Cichowski K, Jacks T . NF1 tumor suppressor gene function: narrowing the GAP. Cell. 2001; 104(4):593-604. DOI: 10.1016/s0092-8674(01)00245-8. View

Hindy P, Parvin R, Hanna K, Andrawes S, Gress F, Goodman A . An isolated neurofibromal polyp of the colon. Case Rep Gastroenterol. 2012; 6(1):58-62. PMC: 3304081. DOI: 10.1159/000336214. View

Rodriguez F, Folpe A, Giannini C, Perry A . Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. Acta Neuropathol. 2012; 123(3):295-319. PMC: 3629555. DOI: 10.1007/s00401-012-0954-z. View

Ahn S, Chung C, Kim K . Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor. Case Rep Gastroenterol. 2016; 10(3):674-678. PMC: 5126605. DOI: 10.1159/000452202. View

Razek A . MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neurol Sci. 2018; 39(5):821-827. DOI: 10.1007/s10072-018-3284-7. View

Woolf M . Neurofibroma of the Rectum. Cal West Med. 1938; 49(6):463-4. PMC: 1659743. View

Asthagiri A, Parry D, Butman J, Kim H, Tsilou E, Zhuang Z . Neurofibromatosis type 2. Lancet. 2009; 373(9679):1974-86. PMC: 4748851. DOI: 10.1016/S0140-6736(09)60259-2. View

Jett K, Friedman J . Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2009; 12(1):1-11. DOI: 10.1097/GIM.0b013e3181bf15e3. View

10.

Adioui T, Tamzaourte M, Nejjari F, Chakkor A, ELkaoui H, Boudhas A . Isolated Neurofibroma of the Sigmoid Colon: a Case Report and Review of the Literature. J Gastrointest Cancer. 2016; 49(2):195-199. DOI: 10.1007/s12029-016-9864-y. View

11.

Ricci R, Martini M, Cenci T, Carbone A, Lanza P, Biondi A . PDGFRA-mutant syndrome. Mod Pathol. 2015; 28(7):954-64. DOI: 10.1038/modpathol.2015.56. View

12.

Panteris V, Vassilakaki T, Vaitsis N, Elemenoglou I, Mylonakou I, Karamanolis D . Solitary colonic neurofibroma in a patient with transient segmental colitis: case report. World J Gastroenterol. 2005; 11(35):5573-6. PMC: 4320377. DOI: 10.3748/wjg.v11.i35.5573. View

13.

Tinguria M, Chorneyko K . Mixed Epithelial and Stromal Tumor: A Rare Renal Neoplasm-Case Report with Clinicopathologic Features and Review of the Literature. Case Rep Pathol. 2023; 2023:3528377. PMC: 9833914. DOI: 10.1155/2023/3528377. View

14.

Ferner R, Huson S, Thomas N, Moss C, Willshaw H, Evans D . Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2006; 44(2):81-8. PMC: 2598063. DOI: 10.1136/jmg.2006.045906. View

15.

Abramson L, Orkin B, Schwartz A . Isolated colonic neurofibroma manifested by massive lower gastrointestinal bleeding and intussusception. South Med J. 1997; 90(9):952-4. DOI: 10.1097/00007611-199709000-00020. View

16.

Evans D, Howard E, Giblin C, Clancy T, Spencer H, Huson S . Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010; 152A(2):327-32. DOI: 10.1002/ajmg.a.33139. View

17.

Bilal M, Bilimoria F, Clarke K . An isolated colonic neurofibroma. Ann Gastroenterol. 2016; 29(3):381. PMC: 4923830. DOI: 10.20524/aog.2016.0029. View

18.

Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D . Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2009; 14(1):186-94. DOI: 10.1007/s11605-009-0940-5. View

19.

Agaram N, Wong G, Guo T, Maki R, Singer S, DeMatteo R . Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008; 47(10):853-9. PMC: 2902874. DOI: 10.1002/gcc.20589. View

20.

Gutmann D, Aylsworth A, Carey J, Korf B, Marks J, Pyeritz R . The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997; 278(1):51-7. View