Malignant peripheral nerve sheath tumor: Pathology and genetics

Annals of Diagnostic Pathology

Volumn 18, Issue 2, 2014, Pages 109-116

  Thway, Khin ^a   Fisher, Cyril ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Malignant peripheral nerve sheath tumor; Neurofibromatosis type 1; Neurofibrosarcoma; Sarcoma; Triton tumor

Indexed keywords

CANCER PROGNOSIS; CELL DIFFERENTIATION; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC TRANSFORMATION; HISTOPATHOLOGY; HUMAN; MALIGNANT PERIPHERAL NERVE SHEATH TUMOR; MOLECULAR GENETICS; NEUROFIBROMA; PRIORITY JOURNAL; REVIEW; TUMOR DIAGNOSIS;

MALIGNANT PERIPHERAL NERVE SHEATH TUMOR; NEUROFIBROMATOSIS TYPE 1; NEUROFIBROSARCOMA; SARCOMA; TRITON TUMOR;

DIAGNOSIS, DIFFERENTIAL; HUMANS; NERVE SHEATH NEOPLASMS; NEUROFIBROMATOSIS 1; NEUROFIBROSARCOMA; PERIPHERAL NERVOUS SYSTEM NEOPLASMS; SARCOMA; SOFT TISSUE NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 84896342067     PISSN: 10929134     EISSN: 15328198     Source Type: Journal    
DOI: 10.1016/j.anndiagpath.2013.10.007     Document Type: Review

References (79)

1. C.M. Coffin, and L.P. Dehner Peripheral neurogenic tumors of the soft tissues in children and adolescents: a clinicopathologic study of 139 cases Pediatr Pathol 9 1989 387 407.
2. J.M. deCou, B.N. Rao, and D.M. Parham et al. Malignant peripheral nerve sheath tumors: the St. Jude Children's Research Hospital experience Ann Surg Oncol 2 1995 524 529.
3. B.S. Ducatman, and B.W. Scheithauer Postirradiation neurofibrosarcoma Cancer 51 1983 1028 1033.
4. K.M. Foley, J.M. Woodruff, and F.T. Ellis et al. Radiation-induced malignant and atypical peripheral nerve sheath tumors Ann Neurol 7 1980 311 318.
5. C.C. Stucky, K.N. Johnson, and R.J. Gray et al. Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic experience Ann Surg Oncol 19 2012 878 885.
6. B.S. Ducatman, and B.W. Scheithauer et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases Cancer 57 1986 2006 2021.
7. P.P. Sordillo, L. Helson, and S.I. Hajdu et al. Malignant schwannoma - clinical characteristics, survival, and response to therapy Cancer 47 1981 2503 2509.
8. J.G. Guccion, and F.M. Enzinger Malignant schwannoma associated with von Recklinghausen's neurofibromatosis Virchows Arch A Pathol Anat Histol 383 1979 43 57.
9. J. LaFemina, L.X. Qin, and N.H. Moraco et al. Oncologic outcomes of sporadic, neurofibromatosis-associated, and radiation-induced malignant peripheral nerve sheath tumors Ann Surg Oncol 20 2013 66 72.
10. E.J. Dozois, J.C. Wall, and R.J. Spinner et al. Neurogenic tumors of the pelvis: clinicopathologic features and surgical outcomes using a multidisciplinary team Ann Surg Oncol 16 2009 1010 1016.
11. R.E. Ferner, and M.J. O'Doherty Neurofibroma and schwannoma Curr Opin Neurol 15 2002 679 684.
12. S.L. Carroll, and N. Ratner How does the Schwann cell lineage form tumors in NF1? Glia 56 2008 1590 1605.
13. A. Ferrari, G. Bisogno, and M. Carli Management of childhood malignant peripheral nerve sheath tumor Paediatr Drugs 9 2007 239 248.
14. M. Carli, A. Ferrari, and A. Mattke et al. Pediatric malignant peripheral nerve sheath tumor: the Italian and German soft tissue sarcoma cooperative group J Clin Oncol 23 2005 8422 8430.
15. O.N. Gottfried, D.H. Viskochil, and W.T. Couldwell Neurofibromatosis type 1 and tumorigenesis: molecular mechanisms and therapeutic implications Neurosurg Focus 28 2010 E8.
16. P. Bhola, S. Banerjee, and J. Mukherjee et al. Preclinical in vivo evaluation of rapamycin in human malignant peripheral nerve sheath explant xenograft Int J Cancer 126 2010 563 571.
17. G. Johansson, Y.Y. Mahller, and M.H. Collins et al. Effective in vivo targeting of the mammalian target of rapamycin pathway in malignant peripheral nerve sheath tumors Mol Cancer Ther 7 2008 1237 1245.
18. C.Y. Zou, K.D. Smith, and Q.S. Zhu et al. Dual targeting of AKT and mammalian target of rapamycin: a potential therapeutic approach for malignant peripheral nerve sheath tumor Mol Cancer Ther 8 2009 1157 1168.
19. S.L. Carroll Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms Acta Neuropathol 123 2012 321 348.
20. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987 Neurofibromatosis 1 1988 172 178.
21. E.M. Jouhilahti, S. Peltonen, and A.M. Heape et al. The pathoetiology of neurofibromatosis 1 Am J Pathol 178 2011 1932 1939.
22. C. Hagel, U. Zils, and M. Peiper et al. Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors J Neurooncol 82 2007 187 192.
23. T.M. Lynch, and D.H. Gutmann Neurofibromatosis 1 Neurol Clin 20 2002 841 865.
24. A. Perry, K.A. Roth, and R. Banerjee et al. NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors Am J Pathol 159 2001 57 61.
25. F.J. Rodriguez, A.L. Folpe, and C. Giannini et al. Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems Acta Neuropathol 123 2012 295 319.
26. J.M. Woodruff Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis Am J Med Genet 89 1999 23 30.
27. T. Tucker, P. Wolkenstein, J. Revuz, J. Zeller, and J.M. Friedman Association between benign and malignant peripheral nerve sheath tumors in NF1 Neurology 65 2005 205 211.
28. S.W. Weiss, and J.R. Goldblum Malignant tumors of the peripheral nerves S.W. Weiss, J.R. Goldblum, Enzinger and Weiss's Soft Tissue Tumors 2008 Mosby Elsevier Philadelphia, PA 903 944.
29. B.W. Scheithauer, J.M. Woodruff, and R.A. Erlandson Primary malignant tumors of peripheral nerve J. Rosai, Atlas of Tumor Pathology. Tumors of the Peripheral Nervous System 1999 Armed Forces Institute of Pathology Washington, DC 303 358.
30. M. Endo, H. Yamamoto, and K. Harimaya et al. Conventional spindle cell-type malignant peripheral nerve sheath tumor arising in a sporadic schwannoma Hum Pathol 44 2013 2845 2848.
31. T. Mentzel, and D. Katenkamp Intraneural angiosarcoma and angiosarcoma arising in benign and malignant peripheral nerve sheath tumours: Clinicopathological and immunohistochemical analysis of four cases Histopathology 35 1999 114 120.
32. R.I. Ruckert, B. Fleige, and P. Rogalla et al. Schwannoma with angiosarcoma. Report of a case and comparison with other types of nerve tumors with angiosarcoma Cancer 89 2000 1577 1585.
33. M.E. McMenamin, and C.D. Fletcher Expanding the spectrum of malignant change in schwannomas: epithelioid malignant change, epithelioid malignant peripheral nerve sheath tumor, and epithelioid angiosarcoma: a study of 17 cases Am J Surg Pathol 25 2001 13 25.
34. Z. Kos, S.J. Robertson, and B.M. Purgina et al. Malignant peripheral nerve sheath tumor arising in a traumatic neuroma: a case report Hum Pathol 44 2013 2360 2364.
35. S. Subramanian, V. Thayanithy, and R.B. West et al. Genome-wide transcriptome analyses reveal p53 inactivation mediated loss of miR-34a expression in malignant peripheral nerve sheath tumours J Pathol 220 2010 58 70.
36. M. Upadhyaya Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors Front Biosci 16 2011 937 951.
37. S. Sawada, S. Florell, and S.M. Purandare et al. Identification of NF1 mutations in both alleles of a dermal neurofibroma Nat Genet 14 1996 110 112.
38. A.G. Menon, K.M. Anderson, and V.M. Riccardi et al. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis Proc Natl Acad Sci U S A 87 1990 5435 5439.
39. H.P. Kourea, C. Cordon-Cardo, and M. Dudas et al. Expression of p27(kip) and other cell cycle regulators in malignant peripheral nerve sheath tumors and neurofibromas: the emerging role of p27(kip) in malignant transformation of neurofibromas Am J Pathol 155 1999 1885 1891.
40. G.P. Nielsen, A.O. Stemmer-Rachamimov, and Y. Ino et al. Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation Am J Pathol 155 1999 1879 1884.
41. H.R. Brekke, M. Kolberg, and R.I. Skotheim et al. Identification of p53 as a strong predictor of survival for patients with malignant peripheral nerve sheath tumors Neuro Oncol 11 2009 514 528.
42. J. Yu, H. Deshmukh, and J.E. Payton et al. Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor Clin Cancer Res 17 2011 1924 1934.
43. M. Endo, H. Yamamoto, and N. Setsu et al. Prognostic significance of AKT/mTOR and MAPK pathways and antitumor effect of mTOR inhibitor in NF1-related and sporadic malignant peripheral nerve sheath tumors Clin Cancer Res 19 2013 450 461.
44. T.P. Stricker, K.J. Henriksen, and J.H. Tonsgard et al. Expression profiling of 519 kinase genes in matched malignant peripheral nerve sheath tumor/plexiform neurofibroma samples is discriminatory and identifies mitotic regulators BUB1B, PBK and NEK2 as overexpressed with transformation Mod Pathol 26 2013 930 943.
45. S. Abe, T. Imamura, and P. Park et al. Small round-cell type of malignant peripheral nerve sheath tumor Mod Pathol 11 1998 747 753.
46. J.M. Coindre Grading of soft tissue sarcomas: review and update Arch Pathol Lab Med 130 2006 1448 1453.
47. L. Guillou, J.M. Coindre, and F. Bonichon et al. Comparative study of the National Cancer Institute and French Federation of Cancer Centers Sarcoma Group grading systems in a population of 410 adult patients with soft tissue sarcoma J Clin Oncol 15 1997 350 362.
48. J.M. Coindre, P. Terrier, and L. Guillou et al. Predictive value of grade for metastasis development in the main histologic types of adult soft tissue sarcomas: a study of 1240 patients from the French Federation of Cancer Centers Sarcoma Group Cancer 91 2001 1914 1926.
49. U. Yamaguchi, T. Hasegawa, and T. Hirose et al. Low grade malignant peripheral nerve sheath tumour: varied cytological and histological patterns J Clin Pathol 56 2003 826 830.
50. O. Arpornchayanon, T. Hirota, and M. Itabashi et al. Malignant peripheral nerve tumors: a clinicopathological and electron microscopic study Jpn J Clin Oncol 14 1984 57 74.
51. T. Hirose, T. Hasegawa, and E. Kudo et al. Malignant peripheral nerve sheath tumors: an immunohistochemical study in relation to ultrastructural features Hum Pathol 23 1992 865 870.
52. C. Fisher, R.L. Carter, and S. Ramachandra et al. Peripheral nerve sheath differentiation in malignant soft tissue tumours: an ultrastructural and immunohistochemical study Histopathology 20 1992 115 125.
53. T.A. Smith, S.K. Machen, and C. Fisher et al. Usefulness of cytokeratin subsets for distinguishing monophasic synovial sarcoma from malignant peripheral nerve sheath tumor Am J Clin Pathol 112 1999 641 648.
54. K. Kosemehmetoglu, J.A. Vrana, and A.L. Folpe TLE1 expression is not specific for synovial sarcoma: a whole section study of 163 soft tissue and bone neoplasms Mod Pathol 22 2009 872 878.
55. O. Krupkova Jr., T. Loja, and I. Zambo et al. Nestin expression in human tumors and tumor cell lines Neoplasma 57 2010 291 298.
56. S. Shimada, T. Tsuzuki, and M. Kuroda et al. Nestin expression as a new marker in malignant peripheral nerve sheath tumors Pathol Int 57 2007 60 67.
57. J.R. Karamchandani, T.O. Nielsen, and M. van de Rijn et al. Sox10 and S100 in the diagnosis of soft-tissue neoplasms Appl Immunohistochem Mol Morphol 20 2012 445 450.
58. D. Nonaka, L. Chiriboga, and B.P. Rubin Sox10: a pan-schwannian and melanocytic marker Am J Surg Pathol 32 2008 1291 1298.
59. G.D. Morphopoulos, S.S. Banerjee, and H.H. Ali et al. Malignant peripheral nerve sheath tumour with vascular differentiation: a report of four cases Histopathology 28 1996 401 410.
60. B.S. Ducatman, and B.W. Scheithauer Malignant peripheral nerve sheath tumors with divergent differentiation Cancer 54 1984 1049 1057.
61. J.M. Woodruff Peripheral nerve tumors showing glandular differentiation (glandular schwannomas) Cancer 37 1976 2399 2413.
62. W.B. Laskin, S.W. Weiss, and G.L. Bratthauer Epithelioid variant of malignant peripheral nerve sheath tumor (malignant epithelioid schwannoma) Am J Surg Pathol 15 1991 1136 1145.
63. M.S. Isakoff, C.G. Sansam, and P. Tamayo et al. Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation Proc Natl Acad Sci U S A 102 2005 17745 17750.
64. I. Versteege, S. Medjkane, and D. Rouillard et al. A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle Oncogene 21 2002 6403 6412.
65. T. Hirose, M. Sumitomo, and E. Kudo et al. Malignant peripheral nerve sheath tumor (MPNST) showing perineurial cell differentiation Am J Surg Pathol 13 1989 613 620.
66. T. Hirose, B.W. Scheithauer, and T. Sano Perineurial malignant peripheral nerve sheath tumor (MPNST): a clinicopathologic, immunohistochemical, and ultrastructural study of seven cases Am J Surg Pathol 22 1998 1368 1378.
67. C. Fisher Synovial sarcoma Ann Diagn Pathol 2 1998 401 421.
68. W.C. Foo, M.W. Cruise, and M.R. Wick et al. Immunohistochemical staining for TLE1 distinguishes synovial sarcoma from histologic mimics Am J Clin Pathol 135 2011 839 844.
69. M. van de Rijn, F.G. Barr, and M.H. Collins et al. Absence of SYT-SSX fusion products in soft tissue tumors other than synovial sarcoma Am J Clin Pathol 112 1999 43 49.
70. M. Ladanyi, J.M. Woodruff, and B.W. Scheithauer et al. Re: O'Sullivan MJ, Kyriakos M, Zhu X, et al. malignant peripheral nerve sheath tumors with t(X;18). A pathologic and molecular genetic study. Mod Pathol 2000;13:1336-1346 Mod Pathol 14 2001 733 737.
71. C.R. Antonescu, L. Zhang, and N.E. Chang et al. EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene Genes Chromosomes Cancer 49 2010 1114 1124.
72. Z. Balogh, L. Deak, and Z. Sapi Malignant myoepithelioma of soft tissue: a case report with cytogenetic findings Cancer Genet Cytogenet 183 2008 121 124.
73. P. Brandal, I. Panagopoulos, and B. Bjerkehagen et al. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma Genes Chromosomes Cancer 47 2008 558 564.
74. P. Brandal, I. Panagopoulos, and B. Bjerkehagen et al. t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma Genes Chromosomes Cancer 48 2009 1051 1056.
75. M. Hisaoka, T. Ishida, and T.T. Kuo et al. Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases Am J Surg Pathol 32 2008 452 460.
76. W.L. Wang, E. Mayordomo, and W. Zhang et al. Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts) Mod Pathol 22 2009 1201 1209.
77. K. Thway, R. Flora, and C. Shah et al. Diagnostic utility of p16, CDK4, and MDM2 as an immunohistochemical panel in distinguishing well-differentiated and dedifferentiated liposarcomas from other adipocytic tumors Am J Surg Pathol 36 2012 462 469.
78. N. Sirvent, J.M. Coindre, and G. Maire et al. Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR Am J Surg Pathol 31 2007 1476 1489.
79. J.M. Coindre, I. Hostein, and G. Maire et al. Inflammatory malignant fibrous histiocytomas and dedifferentiated liposarcomas: histological review, genomic profile, and MDM2 and CDK4 status favour a single entity J Pathol 203 2004 822 830