Giant appendiceal neurofibroma in von Recklinghausen's disease: A case report and literature review

Guo,Liwen; He,Kuifeng; Xu,Xin; Li,Guangliang; Li,Zhongqi; Xia,Yaxian; Teng,Xiaodong; Teng,Lisong

doi:10.3892/ol.2014.2498

November-2014 Volume 8 Issue 5

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November-2014 Volume 8 Issue 5

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Giant appendiceal neurofibroma in von Recklinghausen's disease: A case report and literature review

Authors:
- Liwen Guo
- Kuifeng He
- Xin Xu
- Guangliang Li
- Zhongqi Li
- Yaxian Xia
- Xiaodong Teng
- Lisong Teng
View Affiliations / Copyright

Affiliations: Department of Surgical Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China, Department of Surgical Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China, Department of Obstetrics and Gynecology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China, Department of Pathology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China
Pages: 1957-1960
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Published online on: September 4, 2014

https://doi.org/10.3892/ol.2014.2498
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Abstract

A 62‑year‑old female with neurofibromatosis type 1 (NF1; also von Recklinghausen's disease) was diagnosed with a giant, thick‑walled tubular mass, mainly located in the right abdominal area on computed tomography, following an examination for intermittent abdominal pain and increasing abdominal distension. According to the clinical manifestations and imaging features, the giant tubular mass was considered most likely to be a dilated fallopian tube associated with infection, while the possibility of obstructed bowel loops was excluded. However, the subsequent laparotomy revealed a giant appendix, caused by a large neurofibroma in the root region of the appendix, which occluded the lumen. Neurofibroma of the appendix is extremely rare, even in patients with NF1. To the best of our knowledge, only three such cases have previously been reported in the English literature to date.

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1	Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6:340–351. 2007.
2	Gottfried ON, Viskochil DH and Couldwell WT: Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg Focus. 28:E82010.
3	Agaimy A, Vassos N and Croner RS: Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen’s disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol. 5:852–862. 2012.
4	Olsen BS: Giant appendicular neurofibroma. A light and immunohistochemical study. Histopathology. 11:851–855. 1987.
5	Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H and Evans DG: Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology. 59:1759–1765. 2002.
6	Rajasekharan C, Thomas V, Parvathy R and Meera R: Neurofibromatosis type 1 (NF1) with vocal cord palsy: baffling presentation of a benign tumour. BMJ Case Rep. 2013.bcr20130092022013.
7	Rastogi R: Intra-abdominal manifestations of von Recklinghausen’s neurofibromatosis. Saudi J Gastroenterol. 14:80–82. 2008.
8	Carter JE and Laurini JA: Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes. World J Gastroenterol. 14:6569–6571. 2008.
9	Merck C and Kindblom LG: Neurofibromatosis of the appendix in von Kecklinghausen’s disease. A report of a case. Acta Path Microbiol Scand A. 83:623–627. 1975.
10	Rosenberg E, Sheiner E and Holcberg G: Neurofibromatosis type 1 and masses of the appendix: a case report. J Reprod Med. 51:578–580. 2006.
11	Gutmann DH, Aylsworth A, Carey JC, et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278:51–57. 1997.
12	National Institutes of Health Consensus Development Conference Statement: neurofibromatosis; Bethesda, Md, USA. July 13–15, 1987; Neurofibromatosis. 1. pp. 172–178. 1988
13	Guccion JG and Enzinger FM: Malignant Schwannoma associated with von Recklinghausen’s neurofibromatosis. Virchows Arch A Pathol Anat Histol. 383:43–57. 1979.
14	Bakker JR, Haber MM and Garcia FU: Gastrointestinal neurofibromatosis: an unusual cause of gastric outlet obstruction. Am Surg. 71:100–105. 2005.
15	Miettinen MU and Sobin LH: Gastrointestinal stromal tumors in the appendix: a clinicopathologic and immunohistochemical study of four cases. Am J Surg Pathol. 25:1433–1437. 2001.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Giant appendiceal neurofibroma in von Recklinghausen's disease: A case report and literature review

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