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CASE REPORT Table of Contents   
Year : 2007  |  Volume : 18  |  Issue : 1  |  Page : 19-22
Malignant peripheral nerve sheath tumour: An elusive diagnosis


Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore (Karnataka) - 570 015, India

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Date of Submission06-Jun-2006
Date of Decision07-Aug-2006
Date of Acceptance16-Aug-2006
 

   Abstract 

Malignant peripheral nerve sheath tumour (MPNST) also termed as spindle cell malignancy of the peripheral nerve Schwann cells or neurogenic sarcoma, represents approximately 10% of all soft tissue sarcomas. This tumour is usually found in the lower extremities and only 10-12% of all lesions occur in the head and neck region, which makes it a rare entity. The diagnosis of MPNST has been described as one of the most difficult and elusive diagnosis in the soft tissue diseases because of its non-specific presentation both clinically and histopathologically. This was overcome by the use of immunohistochemistry. A case of MPNST of the left maxillary antrum in a 45 -year -old male patient is reported.

Keywords: Malignant nerve sheath tumour, neurofibromatosis, S-100 protein

How to cite this article:
Patil K, Mahima V G, Ambika L. Malignant peripheral nerve sheath tumour: An elusive diagnosis. Indian J Dent Res 2007;18:19-22

How to cite this URL:
Patil K, Mahima V G, Ambika L. Malignant peripheral nerve sheath tumour: An elusive diagnosis. Indian J Dent Res [serial online] 2007 [cited 2020 Aug 13];18:19-22. Available from: http://www.ijdr.in/text.asp?2007/18/1/19/30917

   Introduction Top


Malignant peripheral nerve sheath tumours (MPNST) are highly malignant sarcomas that are locally invasive, frequently leading to multiple recurrences and eventual metastatic spread.[1]

According to Enzinger and Weiss, the term MPNST is preferred for these tumours because they may recapitulate the appearance of any cell of the Schwann cell and also the perineural fibroblast or fibroblast. This tumour is usually found in the lower extremities and retroperitonium and is rare in the head and neck region.[1],[2],[3],[4],[5],[6]


   Case Report Top


A 45-year-old male patient complained of swelling on the left side of the face since two months and loose upper left back teeth since a month. He gave a history of a swelling, which was initially small, roughly marble sized and had rapidly increased in size over the past two months. The swelling was associated with mild, intermittent, dull aching pain and mobility of upper left back teeth. There was no fluctuation in the size of the swelling. Patient also gave history of occasional bleeding from the nose, difficulty in speech, chewing, breathing, numbness in the roof of the mouth and blurring of vision in the left eye. Past dental, medical, surgical and drug histories were unremarkable. The patient's family history was non-contributory. Patient's personal history revealed that he was a chronic tobacco chewer, smoker as well as a snuff dipper.

On general physical examination, the patient was moderately built and nourished with satisfactory vital signs. There were no signs of any wasting disease. Extraoral examination showed, an oval-shaped well-defined swelling measuring approximately 5 x 7 sq. cms on the left middle third of the face extending superiorly from the zygomatic arch and inferiorly to the level of angle of mouth. Mediolaterally the swelling extended from the nasolabial fold to the level of the outer canthus of left eye. The skin over the swelling was stretched and surrounding tissues appeared normal. No scars, sinuses, ulcerations and discolorations were detected over the swelling. Reduced width of palpebral fissure of the left eye was noted [Figure - 1]. Mouth opening was found to be adequate.

On palpation there was no local rise in temperature. The swelling was non-tender, firm in consistency, nonfluctuant, nonreducible and noncompressible. Inspectory findings regarding shape, size and extent were confirmed. Intraoral hard tissue examination revealed full complement of permanent teeth with missing 28. Grade II mobility was noted in 25, 26 and 27. Halitosis was also evident. Soft tissue examination revealed diffuse swelling involving the entire hard and soft palate with a cleft in the mid-palatal raphe region causing obliteration of the palatal vault. The color of the overlying mucosa appeared normal with a smooth surface. Multiple areas of serous discharge were noticed over the swelling [Figure - 2]. An irregular deep ulcer measuring approximately 1x 1.5 sq. cms in size was seen on the midline over the soft palate. The borders of the ulcer appeared everted and the floor was covered by yellowish, necrotic slough. Inspectory findings regarding shape, size and extent were confirmed on palpation. The ulcer and intraoral swelling were nontender and the swelling was firm in consistency, nonfluctuant, nonreducible and noncompressible.

Based on the history and clinical examination, a provisional diagnosis of antral malignancy was given and differential diagnosis included squamous cell carcinoma, mucoepidermoid carcinoma, adenoid cystic carcinoma, fibrosarcoma, neurogenic sarcoma, chondrosarcoma and osteosarcoma.

Maxillary occlusal view showed an irregular radiolucency involving 21,22 and 23 and diffuse radiopacity on the anterior hard palate, more on the left side. Water's view showed complete haziness of the left maxillary sinus involving left lateral wall of the nose and homogenous radiopacity on the hard palate more on left side [Figure - 3].

Axial CT scan showed partial destruction of the maxilla on both the sides, more on the left side, which was associated with soft tissue replacement. Soft tissue components involving both the maxillary sinuses and ethmoidal sinuses with obliteration of air lucency, destruction of alveolar process of maxilla with soft tissue replacement were also seen [Figure - 4].

Three dimensional CT reconstruction showed destruction of the frontal bone, pterygoid plates, sphenoid bone, clivus and petrous temporal bone. CT report suggested partial destruction with osteoblastic and osteolytic areas involving the maxilla associated with soft tissue replacement suggestive of a highly malignant tumour [Figure - 5].

Patient was subjected to incisional biopsy from the left buccal mucosa and palate. Histopathological sections under low power showed highly cellular hyper chromatic cells running in sheets with little hemorrhagic spaces [Figure - 6]. Hyper chromatic cells with mitotic figures around 10 per high power field were seen which suggested the aggressiveness of the tumour. Pleomorphic cells with wavy nuclei were also appreciated [Figure - 7]. The histopathological findings were suggestive of a spindle cell malignancy, possibly MPNST.

Immunohistochemical investigation was performed to confirm the diagnosis and rule out fibrosarcoma, leiomyosarcoma and synovial sarcoma. The specimen was subjected to immunohistochemistry using S-100 protein tumour marker, which showed focally, strongly staining tumour cells, hence favoring the diagnosis of MPNST [Figure - 8]. Compiling the information obtained by the radiological, histopathological and immunohistochemical investigations, a final diagnosis of MPNST was arrived at. The patient was referred to a regional oncology institute for further evaluation and management.


   Discussion Top


MPNST is also known as malignant schwannoma, neurofibrosarcoma, malignant neurilemmoma and neurogenic sarcoma.[3],[7],[8],[9] It is an aggressive sarcoma of neural origin showing a close association with peripheral nerve or neurofiboma or may show features of neural differentiation.[2]

Its development is thought to be a multistep and multigene process with an etiology being loss of chromosomal arm 17q sequence including complete inactivation of Neurofibromatosis-1 gene.[2],[4],[10] About 40-50% of MPNST are associated with a family history of neurofibromatosis-1 (NF-1).[2] Since the patient denied previous benign pathology that may have been likened to be neurofibromatosis, a denovo origin may be thought of for the present case. Amongst patients with NF-1, the ultimate risk of developing MPNST is approximately 2-4%. It may also arise in areas previously treated with radiation therapy. The tumour represents 10% of all soft tissue sarcomas and the incidence in head and neck region is only 8-20%.[2],[4] Among these, the neck is the commonly involved primary site and manifestations in the oral cavity are rare.[2],[5],[6],[7],[11]

This tumour occurs in the age group of 20-50 years[2],[3],[6],[9],[11] with an equal male and female predilection.[3] It is usually seen in the lower extremities and retroperitonium followed by trunk, upper extremities and head and neck region.[2] In the head and neck region, frequent sites are nasopharynx, paranasal sinus, nasal cavity, oral cavity, orbit, cranial nerves, larynx, parapharyngeal or pterygomaxillary space, minor salivary glands and the thyroid gland.[2] The present case comprises an extremely rare presentation of this malignancy owing to its involvement of the paranasal sinus and nasal cavity.

The tumour may occur anywhere in the oral cavity.[5] The most common sites are the mandible, lips, buccal mucosa, tongue and palate.[4],[5] It appears as a bosselated, sessile, circumscribed submucosal mass associated with pain or parasthesia or muscle weakness and atrophy.[3],[4],[10] This slow enlarging mass sometimes may exhibit rapid growth.[5]

The tumour may also occur centrally within the jaws or as a deep soft tissue malignancy. Soft tissues (MPNST) are fleshy in consistency and are confluent with adjacent tissues.[2] Two thirds of the lesions are larger than 5 cms at the time of diagnosis. This tumour can spread though direct extension, hematogenous extension and by perineural spread. Lymph node metastasis is rare.[2]

Radiographic examination of intraosseous tumour of the oral cavity will show a complete destructive pattern with bony expansion, erosion and tooth mobility, as was in present case. Intraosseous tumour of mandible will show widening of the mandibular canal[10],[12] or the mental foramen with or without irregular destruction of the surrounding bone.[5]

Histologically, these tumours have no defined, classic appearance. Commonly described findings are the presence of spindle cells with a high mitotic rate and indistinct cytoplasmic borders arranged in bundles or fascicles. Immunohistochemistry plays an important part in the diagnosis and in excluding fibrosarcoma, synovial sarcoma and fibrous histiocytoma. MPNST specifically demonstrate S-100 positivity.[4],[7],[8],[10],[12]

Some MPNST lesions show rhabdomyoblastic differentiation leading to the common use of the diagnostic term "Triton tumour." Other heterogeneous elements like cartilage, bone or glandular tissues are also seen.[1],[2],[4]

S-100, Leu-7 and myelin basic protein can be used to identify nerve sheath differentiation and they are immunoreactive for Vimentin and not immunoreactive for HMB-45. S-100 immunoreactivity is focal and scattered in 50-90% of MPNST.[1],[2],[4],[7],[11] The same marker was used in the present case, which showed scattered tumour cells staining positive confirming the diagnosis.

The MPNST of the oral cavity is treated by wide surgical excision[2],[10],[12] but local recurrences are common. Hematogenous metastasis is said to occur in at least half of the treated cases.[2],[3],[10] The tumour is resistant to radiotherapy and chemotherapy and those occurring in NF-1 behave in a more aggressive fashion than those not associated with the syndrome. Overall survival rate is 40-75%.[3],[4] Prognosis is generally poor.


   Conclusion Top


MPNST is a highly aggressive tumour, which is difficult to treat. Despite the substantial progress in treatment modalities available in the present era, the wide spreading nature of this tumour has a strong hold in determining the prognosis. The effects of environmental carcinogens are still unclear. Early detection of this aggressive tumour may help reduce morbidity.


   Acknowledgment Top


Dr. Sudheendra Acharya, former Assistant Professor and Dr. Kumaraswamy, Assistant Professor, Department of Oral Pathology, J.S.S. Dental College and Hospital, Mysore and Dr. Shanta Krishnamurthy, former Consulting Surgical Pathologist and Cytologist, Tata Memorial Hospital, Mumbai.

 
   References Top

1.Marx RE, Stern D. Oral and maxillofacial pathology. A rationale for diagnosis and treatment, malignant soft tissue tumours of mesenchymal origin. 2nd ed. Quintessence: Illinois; 2003. p. 475-7.  Back to cited text no. 1    
2.Barnes L, Dekker M. Surgical pathology of the head and neck. Tumours of the Head and Neck. 2nd ed. Madison Avenue Inc: New York; 2001. p. 836-41.   Back to cited text no. 2    
3.Lee JH, Lee HK, Choi CG, Suh DC, Lee KS, Khang SK. Malignant peripheral nerve sheath tumour in the parapharyngeal space: Tumour spread through the eustachian tube. Am J Neuroradiol 2001;22:748-50.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]
4.[cited on 2005 Nov 9]. Available from: http://www.maxillofacialcentre.com/bondbook/softtissue/mnst.html.  Back to cited text no. 4    
5.Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and maxillofacial pathology connective tissue lesion. Connective tissue lesion. 2nd ed. Saunders: Philadelphia; 2002. p. 482.  Back to cited text no. 5    
6.Sapp JP, Eversole LR, Wysocki GP. Contemporary oral and maxillofacial pathology. Connective tissue lesions. 2nd ed. Elsevier: Missouri; 1997. p. 482-3.  Back to cited text no. 6    
7.Kumar V, Abbas AK, Fasto N, Robins, Cotrans. Pathologic basis of diseases. 7th ed. Saunders: Philadelphia; 2004. p. 1413-21.   Back to cited text no. 7    
8.Ahsan F, Lee MK, Ah-See KW, Chapman AD. Malignant peripheral nerve sheath tumour of the paranasal sinuses. Ear Nose Throat J 2004;83:699-701.  Back to cited text no. 8  [PUBMED]  
9.Barnes L, Dekker M. Surgical Pathology of the head and neck. 2nd ed. Marcel Dekker Inc: New York; 2001. p. 836-41.  Back to cited text no. 9    
10.Regezi JA, Sciubba JJ, Jordan RC. Clinical pathologic correlations. Connective tissue lesions oral pathology. 4th ed. Saunders: Philadelphia; 2003. p. 17.   Back to cited text no. 10    
11.Ladanyi M, Woodruff JM, Scheithauer BW, Bridge JA, Barr FG, Goldblum JR, et al . Re: Malignant peripheral nerve sheath tumours with t(X;18). A pathologic and molecular genetic study. Mod Pathol 2001;14:733-7.  Back to cited text no. 11    
12.Cawson RA, Binne WH, Barrett AW, Wright JM. Oral diseases, tumours and tumour like lesions of soft tissues. 3rd ed. Saunders: Philadelphia; 2001. p. 10.21-2.  Back to cited text no. 12    

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Correspondence Address:
Karthikeya Patil
Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore (Karnataka) - 570 015
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-9290.30917

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]

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    Abstract
    Introduction
    Case Report
    Discussion
    Conclusion
    Acknowledgment
    References
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