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Molecular biomarkers oftypel neurofibromatosis

Abstract

Neurofibromatosis type I is a autosomal dominant hereditary disorder caused by NF1 gene mutations. The main molecular mechanisms contributes to tumor formation in neurofibromatosis type I is angiogenesis stimulation and ras, AKT-mTOR signaling pathways activation. We show that these tumors expressed c-kit and VEGF. Information about clinical trials of target therapy for neurofibromatosis I type patient treatment is cited.

About the Authors

E. V. Stepanova
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


M. R. Lichinitser
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


B. Y. Bokhyan
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


A. A. Fedenko
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


T. K. Charatishvili
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


M. D. Aliev
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation


References

1. Korf B.R. Clinical Features and Pathobiology of Neurofibromatosis 1. J. Child Neurol. 2002, v. 17, p. 573-577.

2. Ferner R.E. Neurofibromatosis type 1. Eur. J. Hum. Genet. 2007, v. 15, № 2, p. 131-8.

3. Korf B.R. Plexiform neurofibromas. Am. J. Med. Genet. 1999, v. 89, p. 31-37.

4. Korf B.R. Malignancy in neurofibromatosis type I. Oncologist. 2000, № 5, p. 477-485.

5. Rasmussen S.A. and Friedman J.M. NF1 Gene and Neurofibromatosis 1. Am. J. Epidemiol. 2000, v. 151, p. 33-40.

6. Shen M.H., Harper P.S., Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J. Med. Genet. 1996, v. 33, p. 2-17.

7. Ducatman B.S., Scheithauer B.W., Piepgras D.G. et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986, v. 57, No. 10, p. 2006-2021.

8. Wanebo J.E., Malik J.M., VandenBerg S.R. et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 28 cases. Cancer. 1993, v. 71, No. 4, p. 1247-1253.

9. Lee M.J., Stephenson D.A. Recent developments in neurofibromatosis type 1. Curr. Opin. Neurol. 2007, v. 20, No. 2, p. 135-41.

10. Vogel K.S., Klesse L.J., Velasco-Miguel S. et al. Mouse tumor model for neurofibromatosis type I. Science. 1999, v. 286, p. 2176-2179.

11. Badache A., De Vries G.H. Neurofibrosarcoma-derived Schwann cells overexpress platelet-derived growth factor (PDGF) receptors and are induced to proliferate by PDGF BB. J. Cell. Physiol. 1998, v. 177, No. 2, p. 334-342.

12. Mashour G.A., Driever P.H., Hartmann M. et al. Circulating Growth Factor Levels Are Associated with Tumorigenesis in Neurofibromatosis Type 1. Clin. Cancer Res. 2004, No. 10, p. 5677-5683.

13. Kranenburg O., Gebbink M.F., Voest E.E. Stimulation of angiogenesis by Ras proteins. Biochim. Biophys Acta. 2004, v. 1654, № 1, p. 23-37.

14. Angelov L., Salhia B., Roncari L. et al. Inhibition of Angiogenesis by Blocking Activation of the Vascular Endothelial Growth Factor Receptor 2 Leads to Decreased Growth of Neurogenic Sarcomas. Cancer Res. 1999, v. 59, p. 5536-5541.

15. DeClue J.E., Helfelfmger S., Benvenuto G. et al. Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models. J. Clin. Invest. 2000, v. 105, No. 9,p. 1233-1241

16. Li H., Velasco-Miguel S., Vass W.C. et al. Epidermal Growth Factor Receptor Signaling Pathways Are Associated with Tumorigenesis in the Nfl:p53 Mouse Tumor Model. Cancer Res. 2002, v. 62, p. 4507-4513.

17. Costa R.M., Federov N.B., Kogan J.H. et al. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature. 2002, v. 415, p. 526-530.

18. Li W., Cui Y., Kushner S.A., Brown R.A. et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr. Biol. 2005, v. 15, p. 1961-1967.

19. Babovic-Vuksanovic D., Widemann B.C., Dombi E. et al. Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas. Pediatr. Neurol. 2007, v. 36, № 5, p. 293-300.

20. Krishnan S., Globle J.M., Frederick L.A. et al. Inhibitory effect of perfendinone on glioblastoma cell lines: implications for treatment of neurofibromatosis. J. Applied Res. 2007, v. 1, No. 7, p. 58-68.

21. Babovic-Vuksanovic D., Ballman K., Michels V. et al. Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology. 2006, v. 67, No. 10, p. 1860-1862.


Review

For citations:


Stepanova E.V., Lichinitser M.R., Bokhyan B.Y., Fedenko A.A., Charatishvili T.K., Aliev M.D. Molecular biomarkers oftypel neurofibromatosis. Bone and soft tissue sarcomas, tumors of the skin. 2010;(4):55-58. (In Russ.)

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ISSN 2219-4614 (Print)
ISSN 2782-3687 (Online)