NEUROFIBROMA IN THE LEFT MANDIBLE: A CASE REPORT

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1 NEUROFIBROMA IN THE LEFT MANDIBLE: A CASE REPORT Qian Tao, Yi Wang, and Chaoqun Zheng Department of Oral and Maxillofacial Surgery, Guanghua School and Hospital of Stomatology and Institute of Stomatological Research, Sun Yat-Sen University, Guangdong, China. We report a rare case of isolated neurofibroma arising in the left mandible without family history of neurofibromatosis type 1. The tumor was histopathologically analyzed and an immunohistochemical panel comprising S-100 protein was performed. Vim, HMB45, and HHF35 were negative. The tumor cells were fusiform in shape, arranged in a plexiform manner, and grew actively. Features typical of neurofibroma, including an enlarged nerve fascicle composed of elongated nuclei and scant cytoplasmic cells, were identified. Our study suggest that neurofibroma can occur in the jaw as an isolated benign tumor in patients without other features of neurofibromatosis type 1. Key Words: diagnosis, mandible, neurofibroma (Kaohsiung J Med Sci 2010;26:217 21) A neurofibroma is a benign tumor arising from neurons and perineural cells [1,2]. Neurofibroma is a poorly circumscribed, diffuse enlargement of neural sheets that typically involves major nerve trunks of the head and neck region because of the rich innervation of this area [1,3 5]. Although this benign tumor has long been recognized as a pathognomonic criterion for neurofibromatosis type 1 (NF-1) (or von Recklinghausen s disease), it may also occur as a jaw lesion arising in a nerve root [3,4]. It is usually quite difficult to identify the specific nerve origin in this condition [6]. In our case, the involved nerve may have been the inferior alveolar nerve. In this article, we describe a rare case of isolated neurofibroma in a female patient without family history of NF-1, and discuss the clinical and pathological diagnosis. Received: Mar 4, 2009 Accepted: Apr 10, 2009 Address correspondence and reprint request to: Dr Qian Tao, Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Sun Yat-Sen University, Guangzhou , Guangdong, China. CASE PRESENTATION A 16-year-old woman presented at our Oral and Maxillofacial Surgery Department, Guangdong, China, complaining of difficulties in opening her mouth, which persisted for 4 months and gradually became more severe. During this time, the patient felt numbness in her left lower lip. The patient reported no weight loss, night sweats, rigor or low-grade fever in association with her condition. X-ray images of the left mandible showed many low density regions from the left mandibular triangle to the mandibular notch. The regions had multilocular characteristics and the edges were irregular (Figure 1). The lesion was approximately cm in size with a honeycomb appearance. Computed tomography of her mandible revealed that her left mandible and the interior and external bone lamella were destroyed (Figure 2). Three-dimensional reconstruction imaging showed that the destruction had occurred from the left mandibular triangle to the mandibular notch, and presented multilocular features (Figure 3). Physical examination of the patient showed that the face of patient was symmetric. There was tenderness Kaohsiung J Med Sci April 2010 Vol 26 No Elsevier. All rights reserved.

2 Q. Tao, Y. Wang, and C. Zheng on the left lesion of the temporomandibular joint. The maximum height of the mouth opening was 0.5 cm. The passageway of the mouth was clear. Based on the initial diagnosis of a mandibular tumor, surgical exploration was undertaken via a standard mandibular approach. The surgical findings Figure 1. X-ray images showed the multilocular features in the left mandible. revealed a well-defined mass involved the region distal to the left first molar and extended to the mandibular ramus, but not the left condyle. After removal of the tumor, an appropriately sized piece of bone was taken from the left spine of the iliac bone to fill the defect (Figure 4). Morphologic analysis revealed that the tumor cells were spindle-shaped, aligned in a plexiform manner, and grew actively (Figure 5). The tumor was histopathologically analyzed and an immunohistochemical panel comprising S-100 protein was performed (Figure 6). The tumor was negative for Vim, HMB45, or HHF35. Thus, the final diagnosis was a neurofibroma arising from mandible. After surgery, the patient was able to open her mouth normally. The height of opening was 3.0 cm. The occlusion was successfully treated by intermaxillary traction. Figure 2. Computed tomography and myocardial perfusion reserve revealed hypertrophy from the left mandibular triangle to the mandibular notch. Figure 3. Three-dimensional image reconstruction showed the extensive bone destruction. 218 Kaohsiung J Med Sci April 2010 Vol 26 No 4

3 Mandible neurofibroma: A case report Figure 4. X-ray image of the left mandible after reconstruction surgery. Figure 5. Photomicrograph of the tumor tissue revealed that the tumor cells had a spindle-shaped appearance with a plexiform alignment (original magnification, 100 ). Figure 6. Photomicrograph of the lesion showed that the tumor cells were positive for S-100 (original magnification, 200 ). DISCUSSION Neurofibroma is usually considered to be an essential characteristic of a generalized syndrome known as NF, a neurocutaneous systemic disease that arises from an autosomal dominant mutation. NF includes a heterogeneous spectrum of disorders and, to the best of our knowledge, a positive family history is reported for approximately half of all confirmed cases. NF-1 is the most common form and is characterized by a range of neurocutaneous and soft-tissue lesions. NF type 2 is characterized by the development of bilateral acoustic neuromas [2]. Most neurofibromas in the head and neck region tend to be solitary tumors. However, the occurrence of an isolated neurofibroma affecting the inferior alveolar nerves without any other features of NF-1, as in the present case, is very rare in the mandible [1,5,7 10]. The present case had no family history of NF-1. Initially, we were unsure whether this tumor was actually a neurofibroma. X-ray, computed tomography and three-dimensional image reconstruction indicated that this tumor was an ameloblastoma and an odontogenic myxoma because of the honeycomb appearance, extensive bone destruction, and slow growth [11]. Because of the numbness of the left lower lip, we assumed that the left inferior alveolar nerve had been destroyed. This tumor was characterized by extensive osteolysis. Taken together, these features suggest that the tumor is malignant [12]. Pathology revealed the presence of multiple, relatively well-demarcated fascicles of spindle-shaped nerve cells, most of which are positive for S-100 [1,7,13]. Therefore, we assessed S-100 protein expression. However, Vim, HMB45, and HHF35 were negative. The type of neurofibroma seen in the present case could be a clinical manifestation of segmental neurofibromatosis resulting from mosaicism of NF-1. Although genetic testing for some of the mutations of the NF-1 gene is available, there is no evidence that such testing is helpful in diagnosing NF-1 in patients with isolated neurofibroma. In conclusion, the present case report has shown that neurofibroma can occur in jaw as an isolated benign tumor in patients with no family history or other features of NF-1. REFERENCES 1. Lin V, Daniel S, Forte V. Is a plexiform neurofibroma pathognomonic of neurofibromatosis type I? Laryngoscope 2004;114: Kaohsiung J Med Sci April 2010 Vol 26 No 4 219

4 Q. Tao, Y. Wang, and C. Zheng 2. Geist JR, Gander DL, Stefanac SJ. Oral manifestations of neurofibromatosis types I and II. Oral Surg Oral Med Oral Pathol 1992;73: Scheithauer BW, Woodruff JM, Erlandson RA. Tumors of the peripheral nervous system. In: Rosai J, Sobin LH, eds. Atlas of Tumor Pathology. Washington: Armed Forces Institute of Pathology, 1999; Weiss SW, Goldblum JR. Enzinger and Weiss s Soft Tissue Tumors, 4 th edition. Missouri: Mosby, 2001; Aloi FG, Massobrio R. Solitary plexiform neurofibroma. Dermatologica 1989;179: Wang HM, Hsu YC, Lee KW, et al. Neurofibroma of the lingual nerve: a case report. Kaohsiung J Med Sci 2006; 22: Papageorge MB, Doku HC, Lis R. Solitary neurofibroma of the mandible and infratemporal fossa in a young child. Report of a case. Oral Surg Oral Med Oral Pathol 1992;73: O Driscoll PM. The oral manifestations of multiple neurofibromatosis. Br J Oral Surg 1965;3: Cundy RL, Matukas VJ. Solitary intraosseous neurofibroma of the mandible. Arch Otolaryngol 1972;96: Polak M, Polak G, Brocheriou C, et al. Solitary neurofibroma of the mandible: case report and review of the literature. J Oral Maxillofac Surg 1989;47: Weber AL, Guralnick W. X-ray of the month. Ameloblastoma. Ann Otol Rhinol Laryngol 1976;85: Stypułkowska J. Odontogenic tumors and neoplasticlike changes of the jaw bone. Clinical study and evaluation of treatment results. Folia Med Cracov 1998;39: [In Polish] 13. Vivek N, Manikandhan R, James PC, et al. Solitary intraosseous neurofibroma of mandible. Indian J Dent Res 2006;17: Kaohsiung J Med Sci April 2010 Vol 26 No 4

5 I S-100 Vim HMB45 HHF35 I 2010;26: Kaohsiung J Med Sci April 2010 Vol 26 No 4 221

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