Preview

Проблемы Эндокринологии

Расширенный поиск

Болезнь фон Гиппеля-Линдау (VHL-синдром)

https://doi.org/10.14341/probl201258234-41

Аннотация

Болезнь фон Гиппеля-Линдау является наследственным опухолевым синдромом, предполагающим развитие различных доброкачественных и злокачественных новообразований (гемангиобластома центральной нервной системы и сетчатки глаза, опухоль внутреннего уха, карцинома и кисты почек, феохромоцитома, нейроэндокринная опухоль и кисты поджелудочной железы, цистаденома придатка яичка у мужчин и широкой связки у женщин). Болезнь фон Гиппеля-Линдау - наиболее распространенная причина наследственного рака почки.

Список литературы

1. von Hippel E. Vorstellung eine patienten mit einer sehr ungewohnlieben Netzhant. Ber Ophthalmol Ges 1895; 24: 269.

2. Lindau A. Studien uber kleinhirncysten: bau, pathogenese und beziehungen zur angiomatosis retinae. Acta Pathol Microbiol Scand 1926; 23: Suppl 1: 1-128.

3. Lindau A. Zur frage der angiomatosis retinae und ihrer hirnkomplikation. Acta Ophthalmol 1927; 4: 193-226.

4. Melmon K.L., Rosen S.W. Lindau's disease. Review of the literature and study of a large kindred. Am J Med 1964; 36: 595-617.

5. Maher E.R., Iselius L., Yates J.R., Littler M., Benjamin C., Harris R., Sampson J., Williams A., Ferguson-Smith M.A., Morton N. von Hippel-Lindau disease: a genetic study. J Med Genet 1991; 28: 443-447.

6. Horton W.A., Wong V., Eldridge R. von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 1976; 136: 769-777.

7. Hosoe S., Brauch H., Latif F., Glenn G., Daniel L., Bale S., Choyke P., Gorin M., Oldfield E., Berman A. et al. Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics 1990; 8: 634-640.

8. Latif F., Tory K., Gnarra J., Yao M., Duh F.M., Orcutt M.L., Stackhouse T., Kuzmin I., Modi W., Geil L. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320.

9. Sgambati M.T., Stolle C., Choyke P.L., Walther M.M., Zbar B., Linehan W.M., Glenn G.M. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet 2000; 66: 84-91.

10. Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Eng C. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466.

11. Bar M., Friedman E., Jakobovitz O., Leibowitz G., Lerer I., Abeliovich D., Gross D.J. Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes. Clin Endocrinol (Oxford) 1997; 47: 707-712.

12. Brauch H., Hoeppner W., Jahnig H., Wohl T., Engelhardt D., Spelsberg F., Ritter M.M. Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. J Clin Endocrinol Metab 1997; 82: 4101-4104.

13. van der Harst E., de Krijger R.R., Dinjens W.N., Weeks L.E., Bonjer H.J., Bruining H.A., Lamberts S.W., Koper J.W. Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. Int J Cancer 1998; 77: 337-340.

14. Kaelin W.G. Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002; 2: 673-82.

15. Stolle C., Glenn G., Zbar B. et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998; 12: 417-423.

16. Vortmeyer A.O., Huang S.C., Pack S.D., Koch C.A. et al. Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion. Oncogene 2002; 21: 1167-1170.

17. Kondo K., Kaelin W.G. The von Hippel-Lindau tumor suppressor gene. Exp Cell Res 2001; 264: 117-125.

18. Hacker K.E., Lee C.M., Rathmell W.K. VHL type 2B mutations retain VBC complex form and function. PloS One 2008; 3: 11: 3801.

19. Kaelin W.G. Jr. The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer. Nat Rev Cancer 2008; 8: 11: 865-873.

20. Richard S., Giraud S., Beroud C., Caron J., Penfornis F., Baudin E., Niccoli-Sire P., Murat A., Schlumberger M., Plouin P.F., Conte-Devolx B. von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH). Ann Endocrinol (Paris) 1998; 59: 452-458.

21. Maher E.R. von Hippel-Lindau disease. Curr Mol Med 2004; 4: 833-842.

22. Favier J., Plouin P.F., Corvol P., Gasc J.M. Angiogenesis and vascular architecture in pheochromocytomas: distinctive traits in malignant tumors. Am J Pathol 2002; 161: 1235-1246.

23. Brieger J., Weidt E.J., Schirmacher P., Storkel S., Huber C., Decker H.J. Inverse regulation of vascular endothelial growth factor and VHL tumor suppressor gene in sporadic renal cell carcinomas is correlated with vascular growth: an in vivo study on 29 tumors. J Mol Med 1999; 77: 505-510.

24. Kaelin W.G., Iliopoulos O., Lonergan K.M., Ohh M. Functions of the von Hippel-Lindau tumour suppressor protein. J Intern Med 1998; 243: 535-539.

25. Lonergan K.M., Iliopoulos O., Ohh M., Kamura T., Conaway R.C., Conaway J.W., Kaelin Jr. W.G. Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. Mol Cell Biol 1998; 18: 732-741.

26. Eisenhofer G., Huynh T.T., Pacak K., Brouwers F.M., Walther M.M., Linehan W.M., Munson P.J., Mannelli M., Goldstein D.S., Elkahloun A.G. Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Relat Cancer 2004; 11: 897-911.

27. Ohh M., Yauch R.L., Lonergan K.M., Whaley J.M., Stemmer-Rachamimov A.O., Louis D.N., Gavin B.J., Kley N., Kaelin Jr. W.G., Iliopoulos O. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol Cell 1998; 1: 959-968.

28. Pause A., Lee S., Lonergan K.M., Klausner R.D. The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal. Proc Natl Acad Sci USA 1998; 95: 993-998.

29. Taro Shuin, Ichiro Yamasaki, Kenji Tamura, Heiwa Okuda, Mutsuo Furihata, Shingo Ashida. Japan J Clin Oncol 2006; 36: 6: 337-343.

30. Maher E.R., Yates J.R., Harries R. et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990; 77: 1151-1163.

31. Friedrich C.A. von Hippel-Lindau syndrome. A pleomorphic condition. Cancer 1999; 86: Suppl 11: 2478-2482.

32. Maher E.R., Kaelin W.G. Jr. von Hippel-Lindau disease. Medicine (Baltimore) 1997; 76: 381-391.

33. Linehan W.M., Lerman M.I., Zbar B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA 1995; 273: 564-570.

34. Linehan W.M., Klausner R.D. Renal carcinoma. In: The genetic basis of human cancer. Ed. B. Vogelstein. 1998 (first edition) and 2002 (second edition).

35. Neumann H.P., Wiestler O.D. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991; 337: 1052-1054.

36. Choyke P.L., Glenn G.M., Walther M.M. et al. von Hippel-Lindau disease: Genetic, clinical, and imaging features. Radiology 1995; 194: 629-642.

37. Walther M.M., Reiter R., Keiser H.R., Choyke P.L., Venzon D., Hurley K., Gnarra J.R., Reynolds J.C., Glenn G.M., Zbar B., Linehan W.M. Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 1999; 162: 659-664.

38. Lonser R.R., Glenn G.M., Walther M. et al. von Hippel-Lindau disease. Lancet 2003; 361: 2059-2067.

39. Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J., Orcutt M., Duh F., Glenn G., Green J., Hsia Y., Lamiell J., Li H., Wei M., Schmidt L., Tory K., Kuzmin I., Stackhouse T., Latif F., Linehan W., Lerman M., Zbar B. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlation with phenotype. Hum Mutat 1995; 5: 66-75.

40. Curley S.A., Lott S.T., Luca J.W., Frazier M.L., Killary A.M. Surgical decisionmaking affected by clinical and genetic screening of a novel kindred with von Hippel-Lindau disease and pancreatic islet cell tumors. Ann Surg 1998; 227: 229-235.

41. Zbar B., Kishida T., Chen F. et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 1996; 8: 348-57.

42. DeLellis R.A., Lloyd R.V., Heitz P.U., Eng C. (eds) World Health Organization classification of tumours: Pathology and genetics of tumours of endocrine organs. IARC: Press (Lyon) 2004.

43. Gross D., Avishai N., Meiner V., Filon D., Zbar B., Abeliovich D. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endocrinol Metab 1996; 81: 147-149.

44. Eng C., Crossey P.A., Mulligan L.M., Healey C.S., Houghton C., Prowse A., Chew S.L., Dahia P.L., O'Riordan J.L., Toledo S.P. et al. Mutations in the RET protooncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995; 32: 934-937.

45. Filling-Katz M.R., Choyke P.L., Oldfield E. et al. Central nervous system involvement in von Hippel-Lindau disease. Neurology 1991; 41: 41-46.

46. Butman J.A., Linehan W.M., Lonser R.R. Neurologic manifestations of von Hippel-Lindau disease. JAMA 2008; 300: 11: 1334-1342.

47. Neumann H.P., Eggert H., Weigel K. et al. Hemangioblastomas of the central nervous system: a ten year study with spezial reference to von Hippel-Lindau syndrome. J Neurosurg 1989; 70: 24-30.

48. Wanebo J.E., Lonser R.R., Glenn G.M., Oldfield E.H. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 2003; 98: 82-94.

49. Vortmeyer A.O., Yuan Q., Lee Y.S., Zhuang Z., Oldfield E.H. Developmental effects of von Hippel-Lindau gene deficiency. Ann Neurol 2004; 55: 721-728.

50. Shively S.B., Beltaifa S., Gehrs B., Duong H., Smith J., Edwards N.A., Lonser R.R., Raffeld M., Vortmeyer A.O. Protracted haemangioblastic proliferation and differentiation in von Hippel-Lindau disease. J Pathol 2008; 216: 4: 514-520.

51. Wong W.T., Chew E.Y. Ocular von Hippel-Lindau disease: clinical update and emerging treatments. Curr Opin Ophthalmol 2008; 19: 3: 213-217.

52. Wong W.T., Agró, Coleman H.R., Tran T., Reed G.F., Csaky K., Chew E.Y. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology 2008; 115: 1: 181-188.

53. Chew E.Y. Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. Trans Am Ophthalmol Soc 2005; 103: 495-511.

54. Schmid D., Natt E., Neumann H.P. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. Eur J Med Res 2000; 5: 47-58.

55. Aiello L.P., George D.J., Cahill M.T., Wong J.S., Cavallerano J., Hannah A.L., Kaelin W.G. Jr. Rapid and durable recovery of visual function in a patient with von Hippel Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor SU5416. Ophthalmology 2002; 109: 9: 1745-1751.

56. Girmens J.F., Erginay A., Massin P., Scigalla P., Gaudric A., Richard S. Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. Am J Ophthalmol 2003; 136: 1: 194-196.

57. Lubensky I.A., Gnarra J.R., Bertheau P., Walther M.M., Linehan W.M., Zhuang Z. Allelic deletion of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients. Am J Pathol 1996; 149: 2089-2094.

58. Neumann H.P., Riegler P., Huber W. et al. The challenge of kidney lesions in von Hippel-Lindau disease. Contrib Nephrol 2001; 136: 193-207.

59. Richard S., Chaveau D., Chretien Y. et al. Renal lesions and pheochromocytoma in von Hippel-Lindau disease. Adv Nephrol 1994; 23: 1-27.

60. Grubb R.L., Choyke P.L., Pinto P.A., Linehan W.M., Walther M.M. Management of von Hippel-Lindau associated kidney cancer. Nat Clin Pract Urol 2005; 2: 248-255.

61. Kaelin W.G. Jr. The von Hippel-Lindau tumor suppressor gene and kidney cancer. Clin Cancer Res 2004; 10: 6290S-6295S.

62. Linehan W.M., Vaselli J., Srinivasan R., Walther M.M., Merino M., Choyke P., Vocke C., Schmidt L., Isaacs J.S., Glenn G., Toro J., Zbar B., Bottaro D., Neckers L. Genetic basis of cancer of the kidney: disease-specific approaches to therapy. Clin Cancer Res 2004; 10: 6282S-6289S.

63. Poston C.D., Jaffe G.S., Lubensky I.A. et al. Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 1995; 153: 22-30.

64. Jamis-Dow C.A., Choyke P.L., Jennings S.B. et al. Small (<3 cm) renal masses: detection with CT versus US and pathologic correlation. Radiology 1996; 198: 785-790.

65. Walther M.M., Choyke P.L., Weiss G. et al. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma. J Urol 1995; 153: 913-916.

66. Choyke P.L., Glenn G., Walther M.M. et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR 1992; 159: 1229-1234.

67. Neumann H.P., Bender B.U., Berger D.P. et al. Prevalence, morphology, and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 1998; 160: 1248-1254.

68. Chretien Y., Chauveau D., Richard S., Droz D., Correas J.M. et al. Treatment of von Hippel-Lindau disease with renal involvement. Prog Urol 1997; 7: 939-947.

69. Ploussard G., Droupy S., Ferlicot S., Pies R., Rocher L., Richard S., Benoit G. Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease. Urology 2007; 70: 3: 435-439.

70. Lehman D.S., Landman J. Cryoablation and radiofrequency for kidney tumor. Curr Urol Rep 2008; 9: 2: 128-134.

71. Chen V.H., Mayes J.M., Madden J.F., Stein A.J., Mouraviev V., Polascik T.J. The effect of cryoablation on the histologic interpretation of intraoperative biopsy of small clear cell renal carcinoma and renal oncocytoma. J Endourol 2008; 22: 8: 1617-1621.

72. Hitter M.M., Frilling A., Crossey P.A. et al. Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. J Clin Endocrinol Metab 1996; 81: 1035-1037.

73. Eisenhofer G., Walther M.M., Huynh T.T. et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 2001; 86: 1999-2008.

74. Neumann H.P., Berger D.P., Sigmund G. et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med 1993; 329: 1531-1538.

75. Sato Y., Waziri M., Smith W., Frey E. Hippel-Lindau disease: MR imaging. Radiology 1988; 166: 241-246.

76. Atuk N.O., McDonald T., Wood T., Carpenter J.T., Walzak M.P., Donaldson M., Gillenwater J.Y. Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family. Medicine (Baltimore) 1979; 58: 208.

77. Huynh T.T., Pacak K., Brouwers F.M., Abu-Asab M.S., Worrell R.A., Walther M.M., Elkahloun A.G., Goldstein D.S., Cleary S., Eisenhofer G. Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. Eur J Endocrinol 2005; 153: 551-563.

78. Ito Y., Fujimoto Y., Obara T. The role of epinephrine, norepinephrine, and dopamine in blood pressure disturbances in patients with pheochromocytoma. Wld J Surg 1992; 16: 759-763.

79. Vogel T.W., Brouwers F.M., Lubensky I.A., Vortmeyer A.O., Weil R.J., Walther M.M., Oldfield E.H., Linehan W.M., Pacak K., Zhuang Z. Differential expression of erythropoietin and its receptor in von Hippel-Lindau-associated and multiple endocrine neoplasia type 2-associated Pheochromocytomas. J Clin Endocrinol Metab 2005; 90 3747-3751.

80. Eisenhofer G. The role of neuronal and extraneuronal plasma membrane transporters in the inactivation of peripheral catecholamines. Pharmacol Ther 2001; 91: 35-62.

81. Von Moll L., McEwan A.J., Shapiro B., Sisson J.C., Gross M.D., Lloyd R., Beals E., Beierwaltes W.H., Thompson N.W. Iodine-131 MIBG scintigraphy of neuroendocrine tumors other than pheochromocytoma and neuroblastoma. J Nucl Med 1987; 28: 979-988.

82. Taieb D., Sebag F., Hubbard J.G., Mundler O., Henry J.F., Conte-Devolx B. Does iodine-131 meta-iodobenzylguanidine (MIBG) scintigraphy have an impact on the management of sporadic and familial phaeochromocytoma? Clin Endocrinol (Oxford) 2004; 61: 102-108.

83. Bryant J., Farmer J., Kessler L.J., Townsend R.R., Nathanson K.L. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst 2003; 95: 1196-1204.

84. Koch C.A., Mauro D., Walther M.M. et al. Pheochromocytomas in VHL disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocrine Pathol 2002; 13: 1: 17-27.

85. Walther M.M., Herring J., Enquist E. et al. Von Recklinghausen.s disease and pheochromocytomas. J Urol 1999; 162: 1582-1586.

86. Pacak K., Chrousos G.P., Koch C.A., Eisenhofer G. Pheochromocytoma: progress in diagnosis, therapy, and genetics. In Adrenal Disorders. Eds. A. Margioris, G.P. Chrousos. New York: Humana Press 2001; 379-413.

87. Koch C.A., Vortmeyer A.O., Diallo R. et al. Survivin: a novel neuroendocrine marker for pheochromocytoma. Eur J Endocrinol 2002; 146: 381-388.

88. Aniar L., Baudin E., Burnichon N., Peyrard S., Silvera S., Bertherat J., Bertagna X., Schlumberger M., Jeunemaitre X., Gimenez-Roqueplo A.P., Plouin P.F. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007; 92: 10: 3822-3828.

89. Koch C.A. Should 1231-labeled meta-iodobenzylguanide scintigraphy be part of the imaging work-up for pheochromocytoma? Nat Clin Pract Endocrinol Metab 2009.

90. Jimenez C., Cabanillas M.E., Santarpia L., Jonasch E., Kyle K.L. et al. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease related tumors. J Clin Endocrinol Metab 2009; 94 (2): 386-391.

91. Choyke P.L., Glenn G.M., Wagner J.P. et al. Epididymal cystadenomas in von Hippel-Lindau disease. Urology 1997; 49: 926-931.

92. Mehta G.U., Shively S.B., Duong H., Iran M.G., Moncrief T.J., Smith J.H., Li J., Edwards N.A., Lonser R.R., Zhuang Z., Merrill M.J., Raffeld M., Maxwell P.H., Oldfield E.H., Vortmeyer A.O. Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease. Neoplasia 2008; 10: 10: 1146-1153.

93. Neumann H.P., Dinkel E., Brambs H. et al. Pancreatic lesions in the von Hippel-Lindau syndrome. Gastroenterology 1991; 101: 465-471.

94. Hough M.T., Stephens D.H., Johnson C.D., Binkovitz L.A. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. Am J Roentgenol 1994; 162: 1091-1094.

95. Binkovitz L.A., Johnson C.D., Stephens D.H. Islet cell tumors in von Hippel-Lindau disease: increased prevalence and relationship to the multiple endocrine neoplasias. Am J Roentgenol 1990; 155: 501-505.

96. Lubenksy I.A., Pack S.D., Ault D. et al. Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients. Am J Pathol 1998; 153: 223-231.

97. Libutti S.K., Choyke P.L., Bartlett D.L. et al. Pancreatic neuroendocrine tumors associated with von Hippel-Lindau: diagnostic and management recommendations. Surgery 1998; 124: 1153-1159.

98. Marcos H.B., Libutti S.K., Alexander H.R., Lubensky I.A., Bartlett D.L., Walther M.M., Linehan W.M., Glenn G.M., Choyke P.L. Neuroendocrine tumors of the pancreas in von Hippel-Lindau disease: spectrum of appearances at CT and MR imaging with histopathologic comparison. Radiology 2002; 225: 751-758.

99. Blansfield J.A., Choyke L., Morita S.Y., Choyke P.L., Pingpank J.F., Alexander H.R., Seidel G., Shutack Y., Yuldasheva N., Eugeni M., Bartlett D.L., Glenn G.M., Middelton L., Linehan W.M., Libutti S.K. Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease manifested by pancreatic neuroendocrine neoplasms. Surgery 2007; 142: 6: 814-818.

100. Cornish D., Pont A., Minor D. et al. Metastatic islet cell tumor in von Hippel-Lindau disease. Am J Med 1984; 77: 147-150.

101. Corcos O., Couvelard A., Giraud S., Vullierme M.P., Dermot O'Toole., Rebours V., Stievenart J.L., Penfornis A., Niccoli-Sire P., Baudin E., Sauvanet A., Levy P., Ruszniewski P., Richard S., Harnmel P. Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. Pancreas 2008; 37: 1: 85-93.

102. Manski T.J., Heffner D.K., Glenn G.M. et al. Endolymphatic sac tumors: a source of morbid hearing loss in von Hippel-Lindau disease. JAMA 1997; 277: 1461-1465.

103. Glasker S., Lonser R.R., Iran M.G., Ikejiri B., Butman J.A., Zeng W., Maxwell P.H., Zhuang Z., Oldfield E.H., Vortmeyer A.O. Effects of VHL deficiency on endolymphatic duct and sac. Cancer Res 2005; 65: 10847-10853.

104. Lonser R.R., Baggenstos M., Kirn H.J., Butman J.A., Vortmeyer A.O. The vestibular aqueduct: site of origin of endolymphatic sac tumors. J Neurosurg 2008; 108: 4: 751-756.

105. Tay K.Y., Yu E., Kassel E. Spinal metastasis from endolymphatic sac tumor. AJNR Am J Neuroradiol 2007; 2894: 613-614.

106. Megerian C.A., Haynes D.S., Poe D.S. et al. Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome. Otol Neurol 2002; 23: 378-387.

107. Kirn H.J., Butman J.A., Brewer C., Zalewski C., Vortmeyer A.O., Glenn G., Oldfield E.H., Lonser R.R. Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment. J Neurosurg 2005; 102: 503-512.

108. Kempermann G., Neumann H.P., Volk B. Endolymphatic sac tumors. Histopathology 1998; 33: 2-10.

109. Weise M., Merke D.P., Pacak K. et al. Utility of plasma free metanephrines for detecting childhood pheochromocytoma. J Clin Endocrinol Metab 2002; 87: 1955-1960.


Рецензия

Для цитирования:


 ,  ,  ,   Болезнь фон Гиппеля-Линдау (VHL-синдром). Проблемы Эндокринологии. 2012;58(2):34-41. https://doi.org/10.14341/probl201258234-41

For citation:


Iukina M.I., Tiul'pakov A.N., Troshina E.A., Bel'tsevich D.G. Von Hippel-Lindau disease (VHL-syndrome). Problems of Endocrinology. 2012;58(2):34-41. https://doi.org/10.14341/probl201258234-41

Просмотров: 4235


ISSN 0375-9660 (Print)
ISSN 2308-1430 (Online)