| |
|
|
| Year : 2007 | Volume
: 18
| Issue : 1 | Page : 19-22 |
|
| Malignant peripheral nerve sheath tumour: An elusive diagnosis |
|
|
Karthikeya Patil, VG Mahima, L Ambika
Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore (Karnataka) - 570 015, India
Click here for correspondence address and email
| Date of Submission | 06-Jun-2006 |
| Date of Decision | 07-Aug-2006 |
| Date of Acceptance | 16-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 2023 Sep 23];18:19-22. Available from: https://www.ijdr.in/text.asp?2007/18/1/19/30917 |
| Introduction | |  |
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 | | |
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 | | |
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 | | |
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 | | |
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 | | |
| 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.  |
| 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. |
| 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. [PUBMED] [FULLTEXT] |
| 4. | [cited on 2005 Nov 9]. Available from: http://www.maxillofacialcentre.com/bondbook/softtissue/mnst.html. |
| 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. |
| 6. | Sapp JP, Eversole LR, Wysocki GP. Contemporary oral and maxillofacial pathology. Connective tissue lesions. 2nd ed. Elsevier: Missouri; 1997. p. 482-3. |
| 7. | Kumar V, Abbas AK, Fasto N, Robins, Cotrans. Pathologic basis of diseases. 7th ed. Saunders: Philadelphia; 2004. p. 1413-21. |
| 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. [PUBMED] |
| 9. | Barnes L, Dekker M. Surgical Pathology of the head and neck. 2nd ed. Marcel Dekker Inc: New York; 2001. p. 836-41. |
| 10. | Regezi JA, Sciubba JJ, Jordan RC. Clinical pathologic correlations. Connective tissue lesions oral pathology. 4th ed. Saunders: Philadelphia; 2003. p. 17. |
| 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. |
| 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. |
Correspondence Address:
Karthikeya Patil
Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore (Karnataka) - 570 015
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0970-9290.30917
Figures
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8] |
|
| This article has been cited by | | 1 |
Paranasal Sinus Malignant Peripheral Nerve Sheath Tumour: A Rare Case Report |
|
| Mihir Suryawanshi, Shradha Saindani, Rohan Suryawanshi, Subash Bhatta, Garima Bhola | | Indian Journal of Otolaryngology and Head & Neck Surgery. 2023; | | [Pubmed] | [DOI] | | | 2 |
Clinicopathological study of malignant peripheral nerve sheath tumors in the head and neck: Case reports and review of literature |
|
| Long Li, Xiao-Kun Ma, Yan Gao, Dian-Can Wang, Rong-Fang Dong, Jing Yan, Ran Zhang | | World Journal of Clinical Cases. 2023; 11(25): 5910 | | [Pubmed] | [DOI] | | | 3 |
Malignant peripheral nerve sheath tumor: A rare malignancy |
|
| Sheetal Sharma, JignaS Shah, Harleen Bali | | Journal of Oral and Maxillofacial Pathology. 2020; 24(4): 86 | | [Pubmed] | [DOI] | | | 4 |
A Case Series on Malignant Peripheral Nerve Sheath Tumour of Cervix: an Institutional Report |
|
| Aswathy G. Nath, P. Rema, S. Suchetha, Neelima Radhakrishnan | | Indian Journal of Surgical Oncology. 2020; 11(S2): 240 | | [Pubmed] | [DOI] | | | 5 |
Demographic, Clinical and Histopathological Features of Oral Neural Neoplasms: A Retrospective Study |
|
| Faraj M. Alotaiby,Sarah Fitzpatrick,Jasbir Upadhyaya,Mohammad N. Islam,Donald Cohen,Indraneel Bhattacharyya | | Head and Neck Pathology. 2019; 13(2): 208 | | [Pubmed] | [DOI] | | | 6 |
Comprehensive Analyses of Intraoral Benign and Malignant Nerve Sheath Tumors |
|
| Yue Song,Jiaan Hu,Yaping Wu,Dongmiao Wang,Yanling Wang,Ping Zhang,Hongbing Jiang,Jianrong Yang,Jie Cheng | | Journal of Craniofacial Surgery. 2019; 30(4): e317 | | [Pubmed] | [DOI] | | | 7 |
Surgical Approaches to Large Peripheral Nerve Sheets Tumors |
|
| Hedaya M. Hendam,Hatem M. El Samouly,Hamdy M. Behairy | | Open Journal of Modern Neurosurgery. 2018; 08(01): 46 | | [Pubmed] | [DOI] | | | 8 |
Surgical Approaches to Large Peripheral Nerve Sheets Tumors |
|
| Hedaya M. Hendam,Hatem M. El Samouly,Hamdy M. Behairy | | Open Journal of Modern Neurosurgery. 2018; 08(01): 46 | | [Pubmed] | [DOI] | | | 9 |
Accuracy and complications of CT-guided core needle biopsy of peripheral nerve sheath tumours |
|
| Marcus Pianta,Eric Chock,Stephen Schlicht,David McCombe | | Skeletal Radiology. 2015; 44(9): 1341 | | [Pubmed] | [DOI] | | | 10 |
Accuracy and complications of CT-guided core needle biopsy of peripheral nerve sheath tumours |
|
| Marcus Pianta,Eric Chock,Stephen Schlicht,David McCombe | | Skeletal Radiology. 2015; 44(9): 1341 | | [Pubmed] | [DOI] | | | 11 |
Simultaneous presentation in the neck and abdomen of malignant peripheral nerve sheath tumors involving two different nerve tracts |
|
| Sideras, P.A. and Castorena, F. and Singh, J. | | Journal of Clinical Neuroscience. 2013; 20(4): 602-604 | | [Pubmed] | | | 12 |
Simultaneous presentation in the neck and abdomen of malignant peripheral nerve sheath tumors involving two different nerve tracts |
|
| Panagiotis A. Sideras,Felipe Castorena,Jaswinder Singh | | Journal of Clinical Neuroscience. 2013; 20(4): 602 | | [Pubmed] | [DOI] | | | 13 |
Malignant Peripheral Nerve Sheath Tumor of the Oral Cavity |
|
| W.V.B.S. Ramalingam,Satish Nair,Ghanashyam Mandal | | Journal of Oral and Maxillofacial Surgery. 2012; 70(10): e581 | | [Pubmed] | [DOI] | | | 14 |
Malignant peripheral nerve sheath tumor of the oral cavity |
|
| Ramalingam, W.V.B.S. and Nair, S. and Mandal, G. | | Journal of Oral and Maxillofacial Surgery. 2012; 70(10): e581-e585 | | [Pubmed] | | | 15 |
Malignant peripheral nerve sheet tumour of cervix |
|
| Akhavan, A. and Moghimi, M. and Karimi-Zarchi, M. and Navabii, H. | | BMJ Case Reports. 2012; | | [Pubmed] | | | 16 |
Intraoral presentation of multiple malignant peripheral nerve sheath tumors associated with neurofibromatosis-1 |
|
| Janardhanan, M. and Rakesh, S. and Kumar, R.B.V. | | Journal of Oral and Maxillofacial Pathology. 2011; 15(1): 46-51 | | [Pubmed] | | | 17 |
Report of a case of malignant peripheral nerve sheath tumor of the neck with an early local recurrence |
|
| Edizer, D.T. and Özdogbrevean, A. and Karaman, E. and Iscedilildak, H. | | Ear, Nose and Throat Journal. 2011; 90(10) | | [Pubmed] | | | 18 |
Malignant peripheral nerve sheath tumour of maxilla |
|
| Ali, N.S. and Junaid, M. and Aftab, K. | | Journal of the College of Physicians and Surgeons Pakistan. 2011; 21(7): 420-422 | | [Pubmed] | | | 19 |
The presentation of laryngeal malignant tumors of mesenchymal origin [Nowotwory złośliwe krtani pochodzenia mezenchymalnego w materiale własnym] |
|
| Stanisław, Z. and Marcin, Z. and Stanisław, B. and Sławomir, O. | | Otolaryngologia Polska. 2011; 65(2): 97-102 | | [Pubmed] | | | 20 |
Nowotwory złośliwe krtani pochodzenia mezenchymalnego w materiale własnym |
|
| Żyłka Stanisław, Zawadzki Marcin, Bień Stanisław, Okła Sławomir | | Otolaryngologia Polska. 2011; 65(2): 97 | | [VIEW] | [DOI] | | | 21 |
Report of a Case of Malignant Peripheral Nerve Sheath Tumor of the Neck with an Early Local Recurrence |
|
| Deniz Tuna Edizer,Ahmet Özdogan,Emin Karaman,Hüseyin Isildak | | Ear, Nose & Throat Journal. 2011; 90(10): E1 | | [Pubmed] | [DOI] | | | 22 |
Report of a Case of Malignant Peripheral Nerve Sheath Tumor of the Neck with an Early Local Recurrence |
|
| Deniz Tuna Edizer,Ahmet Özdogan,Emin Karaman,Hüseyin Isildak | | Ear, Nose & Throat Journal. 2011; 90(10): E1 | | [Pubmed] | [DOI] | | | 23 |
Malignant peripheral nerve cell tumour |
|
| Ghorpade, Akshya Shetty, Sri Hari, Vinay, M. E. Sham | | Journal of Maxillofacial and Oral Surgery. 2010; 9(1): 68 | | [VIEW] | [DOI] | |
|
|
|
|
|
|
|
|
|
|
|
|
| Article Access Statistics | | | Viewed | 10203 | | | Printed | 610 | | | Emailed | 5 | | | PDF Downloaded | 618 | | | Comments | [Add] | | | Cited by others | 23 | | |
|
|
Users online:
