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Pediatric Surgical Pathology of Head and Neck Tumors of the Peripheral Nerve and Paraganglionic System

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Pediatric Head and Neck Textbook

Abstract

This chapter discusses a heterogeneous group of pediatric diseases in the oral cavity, maxilla, and mandible that can be diagnosed based on combined features of their appearances on examination, clinical laboratory test results, radiology in bone lesions when appropriate, histology, immunopathology, and molecular abnormalities. These pathological analyses serve to distinguish these diseases as reactive, congenital, inflammatory, benign, or malignant.

While some entities are unique to the oral cavity, many also occur elsewhere in the body. Knowledge of their existence in the oral cavity or jaws is thus key to their diagnosis.

Readers will find the presentation and definition of these lesions and disease conditions in an atlas-like format informative. An accompanying detailed text that describes the clinical–pathological correlations will also facilitate the establishment of an accurate diagnosis.

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References

  1. Agnihotri S, Jalali S, Wilson MR, et al. The genetic landscape of schwannoma. Nat Genet. 2016;48:1339–48.

    Article  CAS  PubMed  Google Scholar 

  2. Niimura M. Neurofibromatosis. Rinsho Derma. 1973;15:653–63.

    Google Scholar 

  3. Jacoby LB, Jones D, Davis K, et al. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 1997;61:1293–302.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Antinheimo J, Sankila R, Carpen O, et al. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000;54:71–6.

    Article  CAS  PubMed  Google Scholar 

  5. MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64:1838–45.

    Article  CAS  PubMed  Google Scholar 

  6. MacCollin M, Woodfin W, Kronn D, et al. Schwannomatosis: a clinical and pathologic study. Neurology. 1996;46:1072–9.

    Article  CAS  PubMed  Google Scholar 

  7. Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 2006;66:730–2.

    Article  PubMed  Google Scholar 

  8. Smith MJ, Kulkarni A, Rustad C, et al. Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am J Med Genet A. 2012;158A:215–9.

    Article  PubMed  CAS  Google Scholar 

  9. Plotkin SR, Blakeley JO, Evans DG, et al. Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria. Am J Med Genet A. 2013;161A:405–16.

    Article  PubMed  Google Scholar 

  10. Hulsebos TJ, Plomp AS, Wolterman RA, et al. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80:805–10.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Sestini R, Bacci C, Provenzano A, et al. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis- associated schwannomas. Hum Mutat. 2008;29:227–31.

    Article  CAS  PubMed  Google Scholar 

  12. Hadfield KD, Newman WG, Bowers NL, et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008;45:332–9.

    Article  CAS  PubMed  Google Scholar 

  13. Piotrowski A, Xie J, Liu YF, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46:182–7.

    Article  CAS  PubMed  Google Scholar 

  14. Paganini I, Chang VY, Capone GL, et al. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. 2015;23:963–8.

    Article  CAS  PubMed  Google Scholar 

  15. Smith MJ, Isidor B, Beetz C, et al. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 2015;84:141–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608–14.

    Article  CAS  PubMed  Google Scholar 

  17. Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123(1):124–33.

    Article  PubMed  Google Scholar 

  18. Huson SM, Hughes RAC. The neurofibromatoses: a pathogenetic and clinical overview. London: Churchill Livingstone; 1994.

    Google Scholar 

  19. Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009;4:16.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373:1974–86.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Evans DG. Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med. 2009;11:599–610.

    Article  PubMed  Google Scholar 

  22. Evans DG, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet. 1992;29:841–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Evans DG, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet. 1992;29:847–52.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis type 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. 1994;52:450–61.

    Article  CAS  PubMed  Google Scholar 

  25. Mautner VF, Baser ME, Takkar SD, et al. Vestibular schwannoma growth in patients with neurofibromatosis type 2: a longitudinal study. J Neurosurg. 2002;96:223–8.

    Article  PubMed  Google Scholar 

  26. Ragge NK, Baser ME, Klein J, et al. Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol. 1995;120:634–41.

    Article  CAS  PubMed  Google Scholar 

  27. Mautner VF, Lindenau M, Baser ME, et al. Skin abnormalities in neurofibromatosis type 2. Arch Dermatol. 1997;133:1539–43.

    Article  CAS  PubMed  Google Scholar 

  28. Gardner WJ, Frazier CH. Hereditary bilateral acoustic tumors. J Hered. 1933;22:7–8.

    Article  Google Scholar 

  29. Gardner WJ, Turner O. Bilateral acoustic neurofibromas: further clinical and pathologic data on hereditary deafness and Recklinghausen’s disease. Arch Neurol Psychiatry. 1940;44:76–99.

    Article  Google Scholar 

  30. Ruggieri M. The different forms of neurofibromatosis. Childs Nerv Syst. 1999;15:295–308.

    Article  CAS  PubMed  Google Scholar 

  31. Wishart JH. Case of tumours in the skull, dura mater, and brain. Edinburgh Med Surg J. 1822;18:393–7.

    CAS  Google Scholar 

  32. Mautner VF, Tatagiba M, Guthoff R, et al. Neurofibromatosis type 2 in the paediatric age group. Neurosurgery. 1993;33:92–6.

    CAS  PubMed  Google Scholar 

  33. MacCollin M, Bove C, Kluwe L, et al. The natural history of neurofibromatosis 2 in 31 affected children. Ann Neurol. 1998;44(3):A576.

    Google Scholar 

  34. MacCollin M, Mautner VF. The diagnosis and management of neurofibromatosis type 2 in childhood. Semin Pediatr Neurol. 1998;5:243–52.

    Article  CAS  PubMed  Google Scholar 

  35. Ruggieri M, Gabriele AL, Polizzi A, et al. Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics. 2013;14:89–98.

    Article  CAS  PubMed  Google Scholar 

  36. Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993;72:791–800.

    Article  CAS  PubMed  Google Scholar 

  37. MacCollin M, Ramesh V, Jacoby LB, et al. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet. 1994;55:314–20.

    CAS  PubMed  PubMed Central  Google Scholar 

  38. Kluwe L, Mautner VF. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet. 1996;97:224–7.

    Article  CAS  PubMed  Google Scholar 

  39. Kluwe L, Mautner VF. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet. 1998;7:2051–5.

    Article  CAS  PubMed  Google Scholar 

  40. Donofrio V, Passeretti U, Russo S. Neurothekeoma of the thumb: a case report. Tumori. 1988;74:751–4.

    Article  CAS  PubMed  Google Scholar 

  41. Rosati L, Fratamico FC, Eusebi V. Cellular neurothekeoma. Appl Pathol. 1986;4:186–91.

    CAS  PubMed  Google Scholar 

  42. King DT, Barr RJ. Bizarre cutaneous neurofibromas. J Cutan Pathol. 1980;7:21–31.

    Article  CAS  PubMed  Google Scholar 

  43. Gmyrek RF, Beer R, Silvers DN. Periungual myxoid neurofibroma. Cutis. 2002;69:54–6.

    PubMed  Google Scholar 

  44. Eckardt A, Swennen G, Teltzrow T. Melanotic neuroectodermal tumor of infancy involving the mandible: 7-year follow-up after hemimandibulectomy and costochondral graft reconstruction. J Craniofac Surg. 2001;12:349–54.

    Article  CAS  PubMed  Google Scholar 

  45. Barrett AW, Morgan M, Ramsay AD, et al. A clinicopathologic and immunohistochemical analysis of melanotic neuroectodermal tumor of infancy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002;93:688–98.

    Article  CAS  PubMed  Google Scholar 

  46. Agarwal P, Saxena S, Kumar S, et al. Melanotic neuroectodermal tumor of infancy: presentation of a case affecting the maxilla. J Oral Maxillofac Pathol. 2010;14:29–32.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Madrid C, Aziza J, Hlali A, et al. Melanotic neuroectodermal tumour of infancy: a case report and review of the aetiopathogenic hypotheses. Med Oral Patol Oral Cir Bucal. 2010;15:e739–42.

    Article  PubMed  Google Scholar 

  48. Gupta A, Trehan A, Marwaha RK, et al. Melanotic neuroectodermal tumour in an infant. Indian J Paediatr. 2002;69:725–6.

    Article  Google Scholar 

  49. Neven J, Hulsbergen-van der Kaa C, Groot-Loonen J, et al. Recurrent melanotic neuroectodermal tumor of infancy: a proposal for treatment protocol with surgery and adjuvant chemotherapy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106:493–6.

    Article  PubMed  Google Scholar 

  50. Kruse-Losler B, Gaertner C, Burger H, et al. Melanotic neuroectodermal tumor of infancy: systematic review of the literature and presentation of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;102:204–16.

    Article  PubMed  Google Scholar 

  51. Krompecher E. Zur Histogenese und Morphologie der Adamantinome und sostinger Kiefergeschwϋlste. Beitr Path Anat. 1918;64:165–97.

    Google Scholar 

  52. Borello ED, Gorlin RJ. Melanotic neuroectodermal tumor of infancy: a neoplasm of neural crest origin. Report of a case associated with high urinary excretion of vanilmandelic acid. Cancer. 1966;19:196–206.

    Article  CAS  PubMed  Google Scholar 

  53. Lips CJM, Lentjes EGWM, Hoppene HWM, et al. Familial paragangliomas. Hered Cancer Clin Pract. 2006;4:169–76.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Tekautz TM, Pratt CB, Jenkins JJ, et al. Pediatric extraadrenal paraganglioma. J Pediatr Surg. 2003;38:1317–21.

    Article  PubMed  Google Scholar 

  55. Dent TL, Thompson NW, Fry WJ. Carotid body tumors. Surgery. 1976;80:365–72.

    CAS  PubMed  Google Scholar 

  56. Dickinson PH, Griffin SM, Guy AJ, et al. Carotid body tumour: 30 years experience. Br J Surg. 1986;73:14–6.

    Article  CAS  PubMed  Google Scholar 

  57. Fanning JR, Woods FM, Christian HJ. Metastatic carotid body tumor. Report of the case with the review of literature. JAMA. 1963;185:49–50.

    Article  Google Scholar 

  58. Patetsios P, Gable DR, Garrett WV, et al. Management of carotid body paragangliomas and review of a 30 years experience. Ann Vasc Surg. 2002;16:331–8.

    Article  PubMed  Google Scholar 

  59. Crona J, Taieb D, Pacak K. New perspectives on pheochromocytoma and paraganglioma: toward a molecular classification. Endocr Rev. 2017;38(6):489–515.

    Article  PubMed  PubMed Central  Google Scholar 

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Correspondence to Cynthia E. Hawkins .

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Sikhar, V., Hawkins, C.E., Hazrati, LN. (2021). Pediatric Surgical Pathology of Head and Neck Tumors of the Peripheral Nerve and Paraganglionic System. In: Campisi, P., Forte, V., Ngan, BY., Taylor, G. (eds) Pediatric Head and Neck Textbook. Springer, Cham. https://doi.org/10.1007/978-3-030-59265-3_21

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  • DOI: https://doi.org/10.1007/978-3-030-59265-3_21

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