Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: From isolated familial pheochromocytoma to von Hippel-Lindau disease

Familial Cancer

Volumn 8, Issue 4, 2009, Pages 465-471

  Hasani Ranjbar, Shirin ^a   Amoli, Mahsa M ^a   Ebrahim Habibi, Azadeh ^a   Haghpanah, Vahid ^a   Hejazi, Maryam ^a   Soltani, Akbar ^a   Larijani, Bagher ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Familial pheochromocytoma; Mutation; Pheochromocytomas; Von Hippel Lindau disease

Indexed keywords

ARGININE; SUCCINATE DEHYDROGENASE; TRYPTOPHAN; VON HIPPEL LINDAU PROTEIN;

AMINO ACID SUBSTITUTION; ANGIOMA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE METASTASIS; DISTANT METASTASIS; EXON; FAMILIAL CANCER; GENE MUTATION; HUMAN; LIVER METASTASIS; LUNG METASTASIS; MISSENSE MUTATION; NEUROFIBROMATOSIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SIPPLE SYNDROME; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HEMANGIOMA; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHEOCHROMOCYTOMA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, QUATERNARY; PROTO-ONCOGENE PROTEINS C-RET; RETINAL NEOPLASMS; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN; YOUNG ADULT;

EID: 70449522997     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9266-4     Document Type: Article

References (31)

1. PP Stein HR Black 1991 A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution's experience Medicine (Baltimore) 70 46 66 1:STN:280:DyaK3M7gvFGltg%3D%3D
2. K Pacak WM Linehan G Eisenhofer MM Walther DS Goldstein 2001 Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma Ann Intern Med 134 315 329 1:STN:280:DC%2BD3M7ktl2rsA%3D%3D 11182843
3. HP Neumann B Bausch SR McWhinney, et al. 2002 Germ-line mutations in nonsyndromic pheochromocytoma N Engl J Med 346 1459 1466 10.1056/NEJMoa020152 1:CAS:528:DC%2BD38XjsVynsLc%3D 12000816 (Pubitemid 34755714)
4. WF Young Jr AL Abboud 2006 Editorial: Paraganglioma-all in the family J Clin Endocrinol Metab 91 790 792 10.1210/jc.2005-2758 1:CAS:528: DC%2BD28Xis1CmsbY%3D 16522703 (Pubitemid 43357738)
5. HP Neumann C Pawlu M Peczkowska, et al. 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations JAMA 292 943 951 10.1001/jama.292.8.943 1:CAS:528:DC%2BD2cXntFWgtr4%3D 15328326 (Pubitemid 39097204)
6. Z Erlic HP Neumann 2009 Familial pheochromocytoma Hormones (Athens) 8 29 38
7. ER Maher JR Yates R Harries, et al. 1990 Clinical features and natural history of von Hippel-Lindau disease Q J Med 77 1151 1163 1:STN:280: DyaK3M7htVyksQ%3D%3D 2274658
8. RR Lonser GM Glenn M Walther, et al. 2003 von Hippel-Lindau disease Lancet 361 2059 2067 10.1016/S0140-6736(03)13643-4 1:CAS:528: DC%2BD3sXksF2hu7w%3D 12814730 (Pubitemid 36695052)
9. ER Maher WG Kaelin Jr 1997 von Hippel-Lindau disease Medicine (Baltimore) 76 381 391 10.1097/00005792-199711000-00001 1:STN:280:DyaK1c%2FnsFentw%3D%3D
10. A Patocs P Gergics K Balogh, et al. 2008 Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family BMC Med Genet 9 29 10.1186/1471-2350-9-29 18416845 (Pubitemid 351622426)
11. B Zbar T Kishida F Chen, et al. 1996 Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan Hum Mutat 8 348 357 10.1002/(SICI)1098-1004(1996)8:4<348::AID- HUMU8>3.0.CO;2-3 1:CAS:528:DyaK2sXisFKqtQ%3D%3D 8956040 (Pubitemid 26412151)
12. JM Schreinemakers BA Zonnenberg JW Höppener FJ Hes IH Rinkes CJ Lips 2007 A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C World J Surg Oncol 5 112 10.1186/1477-7819-5-112 17922902
13. F Latif K Tory J Gnarra M Yao, et al. 1993 Identification of the von Hippel-Lindau Disease tumor suppressor gene Science 260 1317 1320 10.1126/science.8493574 1:CAS:528:DyaK3sXks12htbc%3D 8493574
14. WY Kim WG Kaelin 2004 Role of VHL gene mutation in human cancer J Clin Oncol 22 4991 5004 10.1200/JCO.2004.05.061 1:CAS:528:DC%2BD2MXptVWrsw%3D%3D 15611513 (Pubitemid 46646218)
15. JB Cruz LP Fernandes SA Clara, et al. 2007 Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing Arq Bras Endocrinol Metabol 51 1463 1467 18209888
16. E Alvandi M Pedram AR Soroush BN Naier SM Akrami 2007 Detection of RET Proto-oncogene Cys634Arg mutation, the cause of medullary thyroid carcinoma, in an Iranian child Iran J Pediatr 17 Suppl 2 301 305
17. E Lindahl C Azuara P Koehl M Delarue 2006 NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis Nucleic Acids Res 34 W52 W56 10.1093/nar/gkl082 1:CAS:528:DC%2BD28Xps1yitrk%3D 16845062 (Pubitemid 44529734)
18. W Humphrey A Dalke K Schulten 1996 VMD: visual molecular dynamics J Mol Graph 14 33 38 10.1016/0263-7855(96)00018-5 1:CAS:528:DyaK28Xis12nsrg%3D 8744570 (Pubitemid 26152973)
19. DR Duan A Pause WH Burgess, et al. 1995 Inhibition of transcription elongation by the VHL tumor suppressor protein Science 269 1402 1406 10.1126/science.7660122 1:CAS:528:DyaK2MXnvFClurg%3D 7660122
20. T Kishida TM Stackhouse F Chen MI Lerman B Zbar 1995 Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations Cancer Res 55 4544 4548 1:CAS:528:DyaK2MXoslWms78%3D 7553625
21. CE Stebbins WG Kaelin NP Pavlevitch 1999 Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function Science 284 455 461 10.1126/science.284.5413.455 1:CAS:528:DyaK1MXisFOksrY%3D 10205047 (Pubitemid 29289612)
22. G Opocher F Schiavi M Iacobone, et al. 2006 Familial nonsyndromic pheochromocytoma Ann N Y Acad Sci 1073 149 155 10.1196/annals.1353.015 17102081 (Pubitemid 44912007)
23. AP Gimenez-Roqueplo H Lehnert M Mannelli H Neumann G Opocher ER Maher PF Plouin European Network for the Study of Adrenal Tumours (ENS@T) Pheochromocytoma Working Group 2006 Phaeochromocytoma, new genes and screening strategies Clin Endocrinol (Oxf) 65 699 705 10.1111/j.1365-2265.2006.02714.x 1:CAS:528:DC%2BD2sXptVWhsg%3D%3D (Pubitemid 44773690)
24. WG Kaelin Jr 2002 Molecular basis of the VHL hereditary cancer syndrome Nat Rev Cancer 2 673 682 10.1038/nrc885 1:CAS:528:DC%2BD38Xmslamsrg%3D 12209156 (Pubitemid 37328918)
25. MM Ritter A Frilling PA Crossey, et al. 1996 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease J Clin Endocrinol Metab 81 1035 1037 10.1210/jc.81.3.1035 1:CAS:528:DyaK28Xhs1agsLw%3D 8772572 (Pubitemid 26083968)
26. AL Tong ZP Zeng HZ Li, et al. 2006 von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas Ann N Y Acad Sci 1073 203 207 10.1196/annals.1353.022 17102088 (Pubitemid 44912014)
27. C Eng PA Crossey LM Mulligan, et al. 1995 Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas J Med Genet 32 934 937 10.1136/jmg.32.12.934 1:STN:280:DyaK28vitleitQ%3D%3D 8825918
28. C Stolle G Glenn B Zbar, et al. 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene Hum Mutat 12 417 423 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K 1:CAS:528:DyaK1cXnsVyksb4%3D 9829911 (Pubitemid 28512618)
29. E Korpershoek BJ Petri FH van Nederveen, et al. 2007 Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma Endocr Relat Cancer 14 453 462 10.1677/ERC-06-0044 1:CAS:528:DC%2BD2sXhtV2lsr3F 17639058 (Pubitemid 47242643)
30. H Dollfus P Massin P Taupin, et al. 2002 Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study Invest Ophthalmol Vis Sci 43 3067 3074 12202531
31. CW Pugh PJ Ratcliffe 2003 Regulation of angiogenesis by hypoxia: role of the HIF system Nat Med 9 677 684 10.1038/nm0603-677 1:CAS:528: DC%2BD3sXktFOnur8%3D 12778166 (Pubitemid 36749216)