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
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
- Published online on: September 4, 2014 https://doi.org/10.3892/ol.2014.2498
-
Pages:
1957-1960
Metrics: Total
Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
This article is mentioned in:
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.
View References
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.
|