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Clinical Sarcoma Research

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Open Access 01-12-2012 | Review

Malignant peripheral nerve sheath tumours in inherited disease

Authors: D Gareth R Evans, Susan M Huson, Jillian M Birch

Published in: Clinical Sarcoma Research | Issue 1/2012

Abstract

Background

Malignant peripheral nerve sheath tumours (MPNST) are rare tumours known to occur at high frequency in neurofibromatosis 1 (NF1), but may also occur in other cancer prone syndromes.

Methods

The North West Regional Genetic Register covers a population of 4.1 million and was interrogated for incidence of MPNST in 12 cancer prone syndromes. Age, incidence and survival curves were generated for NF1.

Results

Fifty two of 1254 NF1 patients developed MPNST, with MPNST also occurring in 2/181 cases of schwannomatosis and 2/895 NF2 patients. Three cases were also noted in TP53 mutation carriers. However, there were no cases amongst 5727BRCA1/2 carriers and first degree relatives, 2029 members from Lynch syndrome families, nor amongst 447 Familial Adenomatous Polyposis, 202 Gorlin syndrome, nor 87 vHL cases.

Conclusion

MPNST is associated with schwannomatosis and TP53 mutations and is confirmed at high frequency in NF1. It appears to be only increased in NF2 amongst those that have been irradiated. The lifetime risk of MPNST in NF1 is between 9–13%.

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Scheithauer BW, Woodruff JM, Erlandson RA, : Atlas of Tumor Pathol; Armed Forces Institute of Pathology 1999: pp.303-72.,

Sorensen SA, Mulvihill JJ, Nielsen A: Long term follow up of von Recklinghausen neurofibromatosis: survival and malignant neoplasms. N Engl J Med. 1986, 314: 1010-1015. 10.1056/NEJM198604173141603CrossRefPubMed

D’Agostino AN, Soule EH, Miller RH: Primary malignant neoplasms of nerves (malignant neurolemmomas) in patients without multiple neurofibromatosis (Von Recklinghausen disease). Cancer. 1963, 16: 1003-1014. 10.1002/1097-0142(196308)16:8<1003::AID-CNCR2820160807>3.0.CO;2-SCrossRefPubMed

Evans DGR, Baser ME, McGaughran J, Sharif S, Donnelly B, Moran A: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002, 39: 311-314. 10.1136/jmg.39.5.311PubMedCentralCrossRefPubMed

George E, Swanson PE, Wick MR: Malignant peripheral nerve sheath tumors of the skin. Am J Dermatopathol. 1989, 11: 213-221. 10.1097/00000372-198906000-00004CrossRefPubMed

Misago N, Ishii Y, Kohda H: Malignant peropheral nerve sheath tumor of the skin: a superficial form of this tumor. J Cutan Pathol. 1996, 23: 182-188. 10.1111/j.1600-0560.1996.tb01293.xCrossRefPubMed

Hirose T, Scheithauer BW, Sano T: Malignant perineurioma. A study of 7 cases. Am J Surg Pathol. l998, 22: 1368-1378. 10.1097/00000478-199811000-00007.CrossRef

Woodruff JM, Perino G: Non-germ cell or teratomatous malignant tumors showing additional rhabdomyoblastic differentiation, with emphasis on the malignant “Triton” tumor. Demin Diagn Surg Pathol. l994, ll: 69-81.

Chao MM, Levine JE, Ruiz RE, Kohlmann WK, Bower MA, Petty EM, Mody RJ: Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation. Pediatr Blood Cancer. 2007, 49 (7): 1000-1004. 10.1002/pbc.20700CrossRefPubMed

10.

Gonzalvo A, Fowler A, Cook RJ, Little NS, Wheeler H, McDonald KL, Biggs MT: Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. J Neurosurg. 2011, 114 (3): 756-762. 10.3171/2010.8.JNS091900CrossRefPubMed

11.

Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F: Birth incidence and prevalence of tumour prone syndromes: estimates from a UK genetic family register service. Am J Med Genet. 2010, 152A (2): 327-332. 10.1002/ajmg.a.33139CrossRefPubMed

12.

Barrow E, Robinson L, Aldhuaj W, Shenton S, Lalloo F, Hill J, Evans DG: Extracolonic cancers in HNPCC: Cumulative lifetime incidence and tumour distribution. A report of 121 families. Clin Genet. 2009, 75 (2): 141-149. 10.1111/j.1399-0004.2008.01125.xCrossRefPubMed

13.

Moran A, O’Hara C, Khan S, Shack L, Woodward E, Maher ER, Lalloo F, Evans DG, : Fam Cancer. 2011 Dec 21. [Epub ahead of print],

14.

Evans DG, Shenton A, Woodward E, Lalloo F, Howell A, Maher ER: Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting. BMC Cancer. 2008, 8 (1): 155- 10.1186/1471-2407-8-155PubMedCentralCrossRefPubMed

15.

Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DGR: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008, 45 (6): 332-339. 10.1136/jmg.2007.056499CrossRefPubMed

16.

Evans DGR, Birch JM, Ramsden RT, Moffat D, Baser ME: Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour-prone syndromes. J Med Genet. 2006, 43 (4): 289-294.PubMedCentralCrossRefPubMed

17.

Bari ME, Forster DM, Kemeny AA, Walton L, Hardy D, Anderson JR: Malignancy in a vestibular schwannoma. Report of a case with central neurofibromatosis, treated by both stereotactic radiosurgery and surgical excision, with a review of the literature. Br J Neurosurg. 2002, 16: 284-289. 10.1080/02688690220148888CrossRefPubMed

18.

Poyhonen M, Niemela S, Herva R: Risk of malignancy and death due to neurofibromatosis. Arch Pathol Lab. 1997, 121: 139-143.

19.

Rasmussen SA, Yang Q, Friedman JM: Mortality in neurofibromatosis 1:an analysis using US death certificates. Am J Hum Genet. 2001, 68: 1110-1118. 10.1086/320121PubMedCentralCrossRefPubMed

20.

Ducatman B, Scheithauer B, Piepgras D, Reiman H, Istrup D: Malignant peripheral nerve sheath tumors: a clinicopathological study of 120 patients. Cancer. 1986, 57: 2006-2021. 10.1002/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6CrossRefPubMed

21.

Wanebo J, Malik J, VandenBerg S, Wanebo H, Driessen N, Persing J: Malignant peripheral nerve sheath tumors: a clinicopathological study of 28 cases. Cancer. 1993, 71: 1247-1253. 10.1002/1097-0142(19930215)71:4<1247::AID-CNCR2820710413>3.0.CO;2-SCrossRefPubMed

22.

Doorn P, Molenar W, Buter J, Hockstra H: Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis. Eur J Surg Oncol. 1995, 21: 78-82. 10.1016/S0748-7983(05)80073-3CrossRefPubMed

23.

Ingham S, Huson SM, Moran A, Wylie J, Leahy M, Evans DG: Malignant peripheral nerve sheath tumours in NF1: Improved survival in women and in recent years. Eur J Cancer. 2011, 47 (18): 2723-2728. 10.1016/j.ejca.2011.05.031CrossRefPubMed

24.

Evans DG, Howard E, Moran A, Ingham S, Scott-Kitching V, Holt F, Huson SM: Mortality in neurofibromatosis 1. Eur J Hum Genetics 2011; in press.,

25.

MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A: Roach ES Diagnostic criteria for schwannomatosis. Neurology. 2005, 64 (11): 1838-1845. 10.1212/01.WNL.0000163982.78900.ADCrossRefPubMed

26.

Murray A, Hughes TAT, Neal JW, Howard E, Evans DGR, Harper PS: A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?. J Neurol Neurosurg Psychiat. 2006, 77 (2): 269-271. 10.1136/jnnp.2005.067017PubMedCentralCrossRefPubMed

27.

Baser ME, Friedman JM, Evans DG: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 2006, 66 (5): 730-732. 10.1212/01.wnl.0000201190.89751.41CrossRefPubMed

28.

Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O: Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor. Clin Cancer Res. 2011, 17 (1): 31-38. 10.1158/1078-0432.CCR-10-1795CrossRefPubMed

29.

Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L: Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics. 2010, 11 (1): 73-80. 10.1007/s10048-009-0204-2CrossRefPubMed

30.

Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ, : 2001, 47 (8): 567-8. J Med Genet. 2010 Oct 7. [Epub ahead of print] Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG.SMARCB1 mutations are not a common cause of multiple meningiomas. J Med Genet,

31.

Birch JM, Alston AD, McNally RJQ, Evans DGR, Kelsey AM, Harris M, Eden OB, Varley JM: Relative frequency and morphology of cancers in 28 Li-Fraumeni families with germline TP53 mutations. Oncogene. 2001, 20: 4621-4628. 10.1038/sj.onc.1204621CrossRefPubMed

32.

Shin M, Ueki K, Kurita H, Kirino T: Malignant transformation of a vestibular schwannoma after gamma knife radiosurgery. Lancet. 2002, 360: 309-310. 10.1016/S0140-6736(02)09521-1CrossRefPubMed

33.

Balasubramaniam A, Shannon P, Hodaie M, Laperriere N, Michaels H, Guha A: Glioblastoma multiforme after stereotactic radiotherapy for acoustic neuroma: Case report and review of the literature. Neuro Oncol. 2007, 9 (4): 447-453. 10.1215/15228517-2007-027PubMedCentralCrossRefPubMed

34.

Higami Y, Shimokawa I, Kishikawa M, Okimoto T, Ohtani H, Tomita M, Tsujino A, Ikeda T: Malignant peripheral nerve sheath tumors developing multifocally in the central nervous system in a patient with neurofibromatosis type 2. Clin Neuropathol. 1998, 17 (2): 115-120.PubMed

35.

Scheithauer BW, Erdogan S, Rodriguez FJ, Burger PC, Woodruff JM, Kros JM, Gokden M, Spinner RJ: Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 cases. Am J Surg Pathol. 2009, 33 (3): 325-338. 10.1097/PAS.0b013e31818d6470CrossRefPubMed

36.

Ziadi A, Saliba I: Malignant peripheral nerve sheath tumor of intracranial nerve: a case series review. Auris Nasus Larynx. 2010, 37 (5): 539-545. 10.1016/j.anl.2010.02.009CrossRefPubMed

37.

Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, Lothe RA, Dallapiccola B: Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol. 2009, 217 (5): 693-701. 10.1002/path.2494CrossRefPubMed

38.

Upadhyaya M, Kluwe L, Spurlock G, Mantripragada K, Monem B, Majounie E, Chuzanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V: The germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumours (MPNSTs). Hum Mutation. 2008, 29 (1): 74-82. 10.1002/humu.20601.CrossRef

39.

Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, Baser M, Huson SM, Gareth Evans D, Ferner R: The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat. 2006, 27 (7): 716-CrossRefPubMed

40.

De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet. 2003 May, 72 (5): 1288-1292. 10.1086/374821.PubMedCentralCrossRefPubMed

41.

Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM: Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008, 10 (4): 593-598. 10.1215/15228517-2008-011PubMedCentralCrossRefPubMed

42.

Ferner RE, Lucas JD, O’Doherty MJ: Evaluation of (18) fluorodeoxyglucose positron emission tomography (FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform tumours in neurofibromatosis 1. J Neurol Neurosurg Psychiat. 2000, 68: 353-357. 10.1136/jnnp.68.3.353PubMedCentralCrossRefPubMed

43.

Ferner RE, Golding JF, Smith M, Calonje E, Jan W, Sanjayanathan V, O’Doherty M: [18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol. 2008, 19 (2): 390-394. 10.1093/annonc/mdm450CrossRefPubMed

Title: Malignant peripheral nerve sheath tumours in inherited disease
Authors: D Gareth R Evans
Susan M Huson
Jillian M Birch
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: Clinical Sarcoma Research / Issue 1/2012
Electronic ISSN: 2045-3329
DOI: https://doi.org/10.1186/2045-3329-2-17

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Background

Methods

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