Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene

American Journal of Hypertension

Volumn 17, Issue 12, 2004, Pages 1107-1111

  Sansó, Gabriela ^a   Garcia Rudaz, Maria C ^a   Levin, Gloria ^a   Barontini, Marta ^a,b  

^a Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

Author keywords

Familial pheochromocytoma; hypertension; hypoglycemia; VHL 2C

Indexed keywords

ADRENALIN; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DOPAMINE; PRAZOSIN;

ARTICLE; CASE REPORT; DNA SEQUENCE; FAMILY STUDY; FATHER; GENE MUTATION; GENETIC ASSOCIATION; GLUCOSE INFUSION; HEART ARREST; HUMAN; HYPERTENSION; HYPOGLYCEMIA; MALE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SURGICAL STRESS; TACHYCARDIA; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU GENE;

ADRENAL GLAND NEOPLASMS; ADULT; ARGININE; CHILD; FOLLOW-UP STUDIES; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HIPPEL-LINDAU DISEASE; HUMANS; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PHEOCHROMOCYTOMA; POINT MUTATION; PROTO-ONCOGENES; SEQUENCE ANALYSIS, DNA; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 11144254402     PISSN: 08957061     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjhyper.2004.06.013     Document Type: Article

References (34)

1. E.L. Bravo Pheochromocytoma new concepts and future trends Kidney Int 40 1991 544 556
2. D. Astuti, F. Douglas, T.W.J. Lennard, I.A. Aligianis, E.R. Woodward, D.G.R. Evans, C. Eng, F. Latif, E.R. Maher Germline SDHD mutation in familial phaeochromocytoma Lancet 357 2001 1181 1182
3. B.U. Bender, M. Gutsche, S. Glasker, B. Muller, G. Kirste, C. Eng, H.P.H. Neumann Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas J Clin Endocrinol Metab 85 2000 4568 4574
4. R. Dluhy Pheochromocytoma--death of an axiom N Engl J Med 346 2002 1486 1488
5. H. Neumann, B. Bausch, S.R. McWhinney, B.U. Bender, O. Gimm, G. Franke, J. Schipper, J. Klisch, C. Altehoefer, K. Zerres, A. Januszewicz, C. Eng Germ-line mutations in nonsyndromic pheochromocytoma N Engl J Med 346 2002 1459 1466
6. O. Gimm, M. Ármanos, H. Dziema, H.P.H. Neumann, C. Eng Somatic and occult germ-line mutations in SDHD, a mitochondral complex II gene, in non familial pheochromocytoma Cancer Res 60 2000 6822 6825
7. R. Dubois, J. Chappuis Le pheochromocytome particularités pédiatriques (pheochromocytoma: pediatric features) Arch Pediatr 4 1997 1217 1225
8. G. Levin, I. Armando, M. Barontini Características del feocromocitoma en niños Rev Hosp Niños Baires 36 1994 98 100
9. G. Weirich, B. Klein, T. Wohl, D. Engelhardt, H. Brauch VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V J Clin Endocrinol Metab 87 2002 5241 5246
10. F. Chen, K. Kishida, M. Yao, T. Hustad, D. Glavac, M. Dean, J.R. Gnarra, M.L. Orcutt, F.M. Duh, G. Glenn Germline mutations in von Hippel-Lindau disease tumour suppressor gene correlations with phenotype Hum Mutat 5 1995 66 75
11. G. Eisenhofer, D.S. Goldstein, R. Stull, H.R. Keiser, T. Sunderland, D.L. Murphy, I. Kopin Simultaneous liquid-chromatographic determination of 3,4-dihydroxyphenylglycol, catecholamines, and 3,4-dihydroxyphenylalanine in plasma and their responses to inhibition of monoamine oxidase Clin Chem 32 1986 2030 2033
12. J.W. Lenders, G. Eisenhofer, I. Armando, H.R. Keiser, D.S. Goldstein, I. Kopin Determination of metanephrines in plasma by liquid chromatography with electrochemical detection Clin Chem 39 1993 97 103
13. J. Pisano, J. Crout, P. Abraham Determination of 3-methoxy-4- hydroxymandelic acid in urine Clin Chim Acta 7 1962 285 291
14. E. Chiefari, D. Russo, D. Giuffrida, G.A. Zampa, D. Meringolo, F. Arturi, I. Chiodini, D. Bianchi, M. Attard, V. Trischitta, R. Bruno, P. Giannasio, A. Pontecorvi, S. Filetti Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma J Endocrinol Invest 21 1998 358 364
15. P.A. Crossey, F.M. Richards, K. Foster, J.S. Green, A. Prowse, F. Latif, M.I. Lerman, B. Zbar, N.A. Affara, M.A. Ferguson-Smith, E.R. Maher Identification of intragenic mutations in the Von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype Hum Mol Genet 3 1994 1303 1308
16. H. Mircescu, F. Wilkin, J. Paquette, L.L. Oligny, H. Decaluwe, L. Gaboury, S. Nolet, G. Van Vliet, C. Deal Molecular characterization of a pediatric pheochromocytoma with suspected bilateral disease J Pediatr 138 2001 269 273
17. G. Sansó, H. Domené, M. Garcia Rudaz, E. Pusiol, A.K. Mondino, M. Roque, A. Ring, H. Perinetti, B. Elsner, S. Iorcansky, M. Barontini Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children Cancer 94 2002 323 330
18. A. Kjaer, C.L. Petersen Primary diagnosis of multiple pheochromocytomas in the brother of a MEN-2 patient by simultaneous MIBG scintigraphy and low-dose computed tomography Clin Nucl Med 27 2002 868 870
19. O. Nilsson, L.E. Tisell, S. Jansson, H. Ahlman, O. Gimm, C. Eng Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation JAMA 281 1999 1587 1588
20. G. Eisenhofer, J.W. Lenders, M. Linehan, M.M. Walther, D.S. Goldstein, H.R. Keiser Plasma normetanephrine and metanephrine for detecting pheochromocytoma in Von Hippel-Lindau disease and multiple endocrine neoplasia type 2 N Engl J Med 340 1999 1872 1879
21. G. Eisenhofer, M.M. Walther, T. Huynh, S.T. Li, S.R. Borstein, A. Vortmeyer, M. Mannelli, D.S. Goldstein, W.M. Linehan, J.W.M. Lenders, K. Pacak Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes J Clin Endocrinol Metab 86 2001 1999 2008
22. R. Martin, A. Hockey, I. Walpole, J. Goldblatt Variable penetrance of familial pheochromocytoma associated with the von Hipple-Lindau gene mutation, S68W Hum Mutat 12 1998 71
23. E. van der Harst, R.R. de Krijger, W.N. Dinjens, L.E. Weeks, H.J. Bonjer, H.A. Bruining, S.W. Lamberts, J.W. Koper Germline mutations in the vhl gene in patients presenting with phaeochromocytomas Int J Cancer 77 1998 337 340
24. G. Janetschek, G. Finkenstedt, R. Gasser, U. Waibel, R. Peschel, G. Bartsch, H.P.H. Neumann Laparoscopic surgery for pheochromocytoma adrenalectomy, partial resection, excision of paragangliomas J Urol 160 1998 330 334
25. M.K. Walz, K. Peiten, H.P.H. Neumann, O.E. Janssen, T. Philipp, K. Mann Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytoma and paragangliomas World J Surg 26 2002 1005 1012
26. M.M. Walther, J. Herring, P.L. Choyke, M. Linehan Laparoscopic partial adrenalectomy in patients with hereditary forms of pheochromocytoma J Urol 164 2000 14 17
27. W.B. Inabnet, P. Caragliano, D. Pertsemlidis Pheochromocytoma inherited associations, bilaterality, and cortex preservation Surgery 128 2000 1007 1012
28. A. Sagalowsky, J.P. Donohue Possible mechanism of hypoglycemia following removal of pheochromocytoma J Urol 124 1980 422 423
29. C. Reynolds, G.H. Wilkins, N. Schmidt Hyperinsulinism after removal of a pheochromocytoma Can Med Assoc J 129 1983 349 353
30. M. Akiba, T. Kodama, Y. Ito, T. Obara, Y. Fujimoto Hypoglycemia induced by excessive rebound secretion of insulin after removal of pheochromocytoma World J Surg 14 1990 317 324
31. R.A. Rizza, P.E. Cryer, M.W. Haymond, J.E. Gerich Adrenergic mechanisms of catecholamine actions on glucose homeostasis in man Metabolism 29 1980 1155 1163
32. J.E. Vance, K.D. Buchanan, D. O'Hara, R.H. Williams, D. Porte Jr Insulin and glucagon responses in subjects with pheochromocytoma effect of alpha adrenergic blockade J Clin Endocrinol 29 1969 111 116
33. 2 sensing Science 292 2001 464 468
34. A. Schoenfeld, E.J. Davidowitz, R.D. Burk A second major native Von Hippel-Lindau gene product, initiated from an internal translation Proc Natl Acad Sci 95 1998 8817 8822