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Case Reports in Endocrinology
Volume 2018, Article ID 8967159, 4 pages
https://doi.org/10.1155/2018/8967159
Case Report

Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation

Division of Endocrinology and Metabolism, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA

Correspondence should be addressed to Olga Astapova; ude.retsehcor.cmru@avopatsa_aglo

Received 27 April 2018; Accepted 14 June 2018; Published 10 July 2018

Academic Editor: Carlo Capella

Copyright © 2018 Olga Astapova et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. S. Schmid, S. Gillessen, I. Binet et al., “Management of von Hippel-Lindau disease: An interdisciplinary review,” Oncology Research and Treatment, vol. 37, no. 12, pp. 761–771, 2014. View at Publisher · View at Google Scholar
  2. C. Cassol and O. Mete, “Endocrine manifestations of von Hippel-Lindau disease,” Archives of Pathology & Laboratory Medicine, vol. 139, no. 2, pp. 263–268, 2015. View at Publisher · View at Google Scholar · View at Scopus
  3. M. L. M. Binderup, A. M. Jensen, E. Budtz-Jørgensen, and M. L. Bisgaard, “Survival and causes of death in patients with von Hippel-Lindau disease,” Journal of Medical Genetics, vol. 54, no. 1, pp. 11–18, 2017. View at Publisher · View at Google Scholar · View at Scopus
  4. S. C. Clifford and E. R. Maher, “Von hippel-lindau disease: Clinical and molecular perspectives,” Advances in Cancer Research, vol. 82, pp. 85–105, 2001. View at Publisher · View at Google Scholar · View at Scopus
  5. L. Gossage, T. Eisen, and E. R. Maher, “VHL, the story of a tumour suppressor gene,” Nature Reviews Cancer, vol. 15, no. 1, pp. 55–64, 2015. View at Publisher · View at Google Scholar · View at Scopus
  6. M. Barontini and P. L. M. Dahia, “VHL Disease,” Best Practice & Research Clinical Endocrinology & Metabolism, vol. 24, no. 3, pp. 401–413, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. L. Li, L. Zhang, X. Zhang et al., “Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations,” Molecular and Cellular Biology, vol. 27, no. 15, pp. 5381–5392, 2007. View at Publisher · View at Google Scholar · View at Scopus
  8. M. P. Rechsteiner, A. Von Teichman, A. Nowicka, T. Sulser, P. Schraml, and H. Moch, “VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations,” Cancer Research, vol. 71, no. 16, pp. 5500–5511, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. R. R. Lonser, G. M. Glenn, M. Walther et al., “Von Hippel-Lindau disease,” The Lancet, vol. 361, no. 9374, pp. 2059–2067, 2003. View at Publisher · View at Google Scholar · View at Scopus
  10. M. A. Hoffman, M. Ohh, H. Yang, J. M. Klco, M. Ivan, and W. G. Kaelin Jr., “Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF,” Human Molecular Genetics, vol. 10, no. 10, pp. 1019–1027, 2001. View at Publisher · View at Google Scholar · View at Scopus
  11. S. C. Clifford, M. E. Cockman, A. C. Smallwood et al., “Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease,” Human Molecular Genetics, vol. 10, no. 10, pp. 1029–1038, 2001. View at Publisher · View at Google Scholar
  12. S. Ruiz-Llorente, J. Bravo, A. Cebrián et al., “Genetic characterization and structural analysis of VHL spanish families to define genotype-phenotype correlations,” Human Mutation, vol. 23, no. 2, pp. 160–169, 2004. View at Publisher · View at Google Scholar · View at Scopus
  13. Z. Ding, P. German, S. Bai et al., “Genetic and pharmacological strategies to refunctionalize the von hippel lindau R167Q mutant protein,” Cancer Research, vol. 74, no. 11, pp. 3127–3136, 2014. View at Publisher · View at Google Scholar · View at Scopus
  14. J. P. Brito, N. Asi, I. Bancos et al., “Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: A systematic review,” Clinical Endocrinology, vol. 82, no. 3, pp. 338–345, 2015. View at Publisher · View at Google Scholar · View at Scopus
  15. H. A. R. Bluyssen, M. P. J. K. Lolkema, M. Van Beest et al., “Fibronectin is a hypoxia-independent target of the tumor suppressor VHL,” FEBS Letters, vol. 556, no. 1-3, pp. 137–142, 2004. View at Publisher · View at Google Scholar · View at Scopus
  16. N. H. Stickle, J. Chung, J. M. Klco, R. P. Hill, W. G. Kaelin Jr., and M. Ohh, “pVHL modification by NEDD8 is required for fibronectin matrix assembly and suppression of tumor development,” Molecular and Cellular Biology, vol. 24, no. 8, pp. 3251–3261, 2004. View at Publisher · View at Google Scholar · View at Scopus
  17. Q. Ji and R. D. Burk, “Downregulation of integrins by von Hippel-Lindau (VHL) tumor suppressor protein is independent of VHL-directed hypoxia-inducible factor alpha degradation,” The International Journal of Biochemistry & Cell Biology, vol. 86, no. 3, pp. 227–234, 2008. View at Publisher · View at Google Scholar · View at Scopus
  18. M. D. Hughes, E. Kapllani, A. E. Alexander, R. D. Burk, and A. R. Schoenfeld, “HIF-2alpha downregulation in the absence of functional VHL is not sufficient for renal cell differentiation,” Cancer Cell International, vol. 7, p. 13, 2007. View at Google Scholar