Neurofibromatosis type 1 peripheral nerve tumors: Aberrant activation of the Ras pathway

Surgical Neurology

Volumn 51, Issue 2, 1999, Pages 211-218

  Feldkamp, Matthias M ^a,b   Angelov, Lilyana ^a,b   Guha, Abhijit ^a,b,c  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Farnesyl transferase inhibitor; Neurofibromatosis Type 1; Neurofibromin; Peripheral nerve tumors; Ras; Signal transduction

Indexed keywords

FARNESYL TRANS TRANSFERASE; NEUROFIBROMIN; RAS PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; NEURILEMOMA; NEUROFIBROMA; NEUROFIBROMATOSIS; NEUROFIBROSARCOMA; PERIPHERAL NERVE TUMOR; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION;

CHROMOSOMES, HUMAN, PAIR 17; ENZYME INHIBITORS; GENE EXPRESSION REGULATION; GENES, NEUROFIBROMATOSIS 1; GENES, RAS; HUMANS; NERVE TISSUE PROTEINS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROTEIN ISOPRENYLATION; PROTEINS; SIGNAL TRANSDUCTION; TRANSFERASES;

EID: 0033083796     PISSN: 00903019     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0090-3019(97)00356-X     Document Type: Article

References (59)

1. Andreassen A., Oyjord T., Hovig E., Holm R., Florenes V.A., Nesland J.M., Myklebost O., Hoie J., Bruland O.S., Borresen A.-L., Fodstad O. p53 abnormalities in different subtypes of human sarcomas. Cancer Res. 53:1993;468-471.
2. Anonymous . Symposium on Linkage of von Recklinghausen Neurofibromatosis (NF1). Closing in on the gene for von Recklinghausen neurofibromatosis. Genomics. 1:1987;335-383.
3. Basu T.N., Gutmann D.H., Fletcher J.A., Glover T.W., Collins F.S., Downward J. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature. 356:1992;713-715.
4. Birch R. Peripheral Nerve Tumors. Peripheral neuropathy.1. 1993;1623-1640 W.B. Saunders, Philadelphia.
5. Bollag G., McCormick F. Differential regulation of rasGAP and neurofibromatosis gene product activities. Nature. 351:1991;576-579.
6. Bos J.L. Ras oncogenes in human cancers a review . Cancer Res. 49:1989;4682-4689.
7. Brannan C.I., Perkins A.S., Vogel K.S., Ratner N., Nordlund M.L., Reid S.W., Buchberg A.M., Jenkins N.A., Parada L.F., Copeland N.G. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev. 8:1994;1019-1029.
8. Buchberg A.M., Cleveland L.S., Jenkins N.A., Copeland N.G. Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature. 347:1990;291-294.
9. Cance W.G., Brennan M.F., Dudas M.E., Huang C.M., Cordon-Cardo C. Altered expression of the retinoblastosis gene product in human sarcomas. N Engl J Med. 323:1990;1457-1462.
10. Cantley L.C., Auger K.R., Carpenter C., Duckworth B., Graziani A., Kapeller R., Soltoff S. Oncogenes and signal transduction. Cell. 64:1991;281-302.
11. Castresana J.S., Barrios C., Gomez L., Kreicbergs A. No association between c-myc amplification and TP53 mutation in sarcoma tumorigenesis. Cancer Genet Cytogenet. 76:1994;47-49.
12. Cawthon R.M., Anderson L.B., Buchberg A.M., Xu G.F., O'Connell P., Viskochill D., Weiss R.B., Wallace M.R., Marchuk D.A., Culver M. cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics. 9:1991;446-460.
13. Colman S.D., Williams C.A., Wallace M.R. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet. 11:1995;90-92.
14. Cordon-Cardo C., Latres E., Drobnjak M., Oliva M.R., Pollack D., Woodruff J.M., Marechal V., Chen J., Brennan M.F., Levine A.J. Molecular abnormalities of mdm2 and p53 genes in adult soft tissue sarcomas. Cancer Res. 54:1994;794-799.
15. Crowe F. A clinical, pathological and genetic study of multiple neurofibromatosis. 1956;C.C. Thomas, Springfield, IL.
16. Cullen P.J., Hsuan J.J., Truong O., Letcher A.J., Jackson T.R., Dawson A.P., Irvine R.F. Identification of a specific Ins(1,3,4,5)P4-binding protein as a member of the GAP1 family. Nature. 376:1995;527-530.
17. ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell. 69:1992;265-273.
18. Downward J. Regulation of p21ras by GTPase activating proteins and guanine nucleotide exchange proteins. Curr Opin Genet Dev. 2:1992;13-18.
19. Downward J. Regulatory mechanisms for ras proteins. Bioessays. 14:1992;177-184.
20. Ducatman B.S., Scheithauer B.W., Piepgras D.G., Reiman H.M., Ilstrup D.M. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 57:1986;2006-2021.
21. Enneking W. Musculo-skeletal tumor surgery. 1983;Churchill Livingstone, Edinburgh.
22. Feldkamp M.M., Lau N., Provias J.P., Guha A. Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1 A pathologic and molecular explanation . J Neurosurg. 84:1996;867-873.
23. Friend S.H., Horowitz J.M., Gerber M.R., Wang X.F., Bogenmann E., Li F.P., Weinberg R.A. Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors organization of the sequence and its encoded protein . Proc Natl Acad Sci U S A. 84:1987;9059-9063.
24. Gibbs J.B., Oliff A., Kohl N.E. Farnesyltransferase inhibitors Ras research yields a potential cancer therapeutic . Cell. 77:1994;175-178.
25. Guha A., Bilbao J., Kline D.G., Hudson A.R. Tumors of the Peripheral Nervous System. Neurological Surgery. 4th edition :1996;3175-3187 W.B. Saunders, Philadelphia.
26. Guha A., Lau N., Gutmann D., Provias J., Pawson T., Boss G. Ras-GTP levels are elevated in human NF1 peripheral nerve tumours. Oncogene. 12:1996;507-513.
27. Gutmann D.H., Cole J.L., Stone W.J., Ponder B.A.J., Collins F.S. Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type 1. Genes Chromosomes Cancer. 10:1994;55-58.
28. Jacks T., Shih T.S., Schmitt E.M., Bronson R.T., Bernards A., Weinberg R.A. Tumour predisposition in mice heterozygous for a targeted mutation in NF1. Nat Genet. 7:1994;353-361.
29. Jhanwar S.C., Chen Q., Li F.P., Brennan M.F., Woodruff J.M. Cytogenetic analysis of soft tissue sarcomas. Recurrent chromosome abnormalities in malignant peripheral nerve sheath tumors (MPNST). Cancer Genet Cytogenet. 78:1994;138-144.
30. Johnson M.D., Kamso-Pratt J., Federspiel C.F., Whetsell W.O. Jr. Mast cell and lymphoreticular infiltrates in neurofibromas. Comparison with nerve sheath tumors. Arch Pathol Lab Med. 113:1989;1263-1270.
31. Kohl N.E., Omer C.A., Conner M.W., Anthony N.J., Davide J.P., deSolms S.J., Giuliani E., Gomez R.P., Graham S.L., Hamilton K., Handt L.K., Hartman G.D., Koblan K.S., Kral A.M., Miller P.J., Mosser S.D., Oneal T.J., Randes E., Schaber M.D., Gibbs J.B., Oliff A. Inhibition of farnesyltransferase induces regression of mammary and salivary carcinomas in ras transgenic mice. Nat Med. 1:1995;792-797.
32. Legius E., Dierick H., Wu R., Hall B.K., Marynen P., Cassiman J.J., Glover T.W. TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer. 10:1994;250-255.
33. Legius E., Marchuk D.A., Collins F.S., Glover T.W. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet. 3:1993;122-126.
34. Li Y., O'Connell P., Breidenbach H.H., Cawthon R., Stevens J., Xu G., Neil S., Robertson M., White R., Viskochil D. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics. 25:1995;9-18.
35. Lothe R.A., Slettan A., Saeter G., Brogger A., Borresen A.L., Nesland J.M. Alterations at chromosome 17 loci in peripheral nerve sheath tumors. J Neuropathol Exp Neurol. 54:1995;65-73.
36. Maekawa M., Li S., Iwamatsu A., Morishita T., Yokota K., Imai Y., Kohsaka S., Nakamura S., Hattori S. A novel mammalian Ras GTPase-activating protein which has phospholipid-binding and Btk homology regions. Mol Cell Biol. 14:1994;6879-6885.
37. Marchuk D.A., Saulino A.M., Tavakkol R., Swaroop M., Wallace M.R., Andersen L.B., Mitchell A.L., Guttman D.H., Boguski M., Collins F.S. cDNA cloning of the type 1 neurofibromatosis gene Complete sequence of the NF1 gene product . Genomics. 11:1991;931-940.
38. McCormick F. Signal transduction. How receptors turn Ras on. Nature. 363:1993;15-16.
39. McCormick F. Ras signaling and NF1. Curr Opin Genet Dev. 5:1995;51-55.
40. Menon A.G., Anderson K.M., Riccardi V.M., Chung R.Y., Whaley J.M., Yandell D.W., Farmer G.E., Freiman R.N., Lee J.K., Li F.P., Barker D.F., Ledbetter D.H., Kleider A., Martuza R.L., Gusella J.F., Seizinger B.R. 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.
41. Pang L., Sawada T., Decker S.J., Saltiel A.R. Inhibition of MAP kinase kinase blocks the differentiation of PC-12 cells induced by nerve growth factor. J Biol Chem. 270:1995;13585-13588.
42. Peltonen J., Aho H., Rinne U.K., Penttinen R. Neurofibromatosis tumor and skin cells in culture. Acta Neuropathologica. 61:1983;275-282.
43. Preiser S.A., Davenport C.B. Multiple neurofibromatosis (von Recklinghausen disease) and its inheritance. Am J Med Sci. 156:1918;507.
44. Riccardi V.M., Eichner J.E. Neurofibromatosis phenotype, natural history, and pathogenesis . 1992;Johns Hopkins University Press, Baltimore, MD.
45. Sarfarazi M., Huson S.M., Edwards J.H. An exclusion map for von Recklinghausen neurofibromatosis. J Med Genet. 24:1987;515-520.
46. Sawada Si, Florell S., Purandare S.M., Ota M., Stephens K., Viskochill D. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet. 14:1996;110-112.
47. Scheele J.S., Rhee J.M., Boss G.R. Determination of absolute amounts of ras GDP and GTP bound to ras in mammalian cells comparison of parental and ras-overproducing NIH 3T3 fibroblasts . Proc Natl Acad Sci U S A. 92:1994;1097-1100.
48. Shannon K.M., O'Connell P., Martin G.A., Paderanga D., Olson K., Dinndorf P., McCormick F. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med. 330:1994;597-601.
49. Sorensen S.A., Mulvihill J.J., Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med. 314:1986;1010-1015.
50. Stumpf S., Alksne J.F., Annegers J.F., Brown S.S., Conneally P.M., Housman D. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 45:1988;575-578.
51. Takahashi K., Suzuki H., Hatori M., Abe Y., Kokubun S., Sakurai M., Shibahara S. Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. Clin Sci. 88:1995;581-585.
52. Upadhyaya M., Shen M., Cherryson A., Farnham J., Maynard J., Huson S.M., Harper P.S. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet. 1:1992;735-740.
53. Viskochil D., Buchberg A.M., Xu G., Cawthon R.M., Stevens J., Wolff R.K., Culver M., Carey J.C., Copeland N.G., Jenkins N.A. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 62:1990;187-192.
54. Wallace M.R., Marchuk D.A., Andersen L.B., Letcher R., Odeh H.M., Saulino A.M., Fountain J.W., Brereton A., Nicholson J., Mitchell A.L. Type 1 neurofibromatosis gene identification of a large transcript disrupted in three NF1 patients . Science. 249:1990;181-186.
55. Wunder J.S., Czitrom A.A., Kandel R., Andrulis I.L. Analysis of alterations in the retinoblastoma gene and tumor grade in bone and soft-tissue sarcomas. J Natl Cancer Inst. 83:1991;194-200.
56. Xu G.F., O'Connell P., Viskochil D., Cawthon R., Robertson M., Culver M., Dunn D., Stevens J., Gesteland R., White R., Weiss R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 62:1990;599-608.
57. Xu W., Mulligan L.M., Ponder M.A., Liu L., Smith B.A., Mathew C.G.P., Ponder B.A.J. Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer. 4:1992;337-342.
58. Yan N., Ricca C., Fletcher J., Glover T., Seizinger B.R., Manne V. Farnesyltransferase inhibitors block the neurofibromatosis type I (NF1) malignant phenotype. Cancer Res. 55:1995;3569-3575.
59. Zoller M., Rembeck B., Akesson H.O., Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol. 75:1995;136-140.