Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: A population-based study in Western Sweden

World Journal of Surgery

Volumn 36, Issue 6, 2012, Pages 1389-1394

  Muth, Andreas ^a   Abel, Frida ^b   Jansson, Svante ^a   Nilsson, Ola ^a   Ahlman, Håkan ^a   Wängberg, Bo ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET; RET PROTEIN, HUMAN; SDHB PROTEIN, HUMAN; SDHD PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE; VHL PROTEIN, HUMAN; VON HIPPEL LINDAU PROTEIN;

ABDOMINAL TUMOR; ADOLESCENT; ADRENAL TUMOR; ADULT; ARTICLE; CHEMODECTOMA; DNA SEQUENCE; FEMALE; FOLLOW UP; GENE DELETION; GENETIC MARKER; GENETICS; HUMAN; MALE; MIDDLE AGED; MUTATION; PERIODICITY; PHEOCHROMOCYTOMA; POINT MUTATION; REGISTER; SWEDEN;

ABDOMINAL NEOPLASMS; ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; FEMALE; FOLLOW-UP STUDIES; GENETIC MARKERS; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PARAGANGLIOMA, EXTRA-ADRENAL; PERIODICITY; PHEOCHROMOCYTOMA; POINT MUTATION; PROTO-ONCOGENE PROTEINS C-RET; REGISTRIES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SUCCINATE DEHYDROGENASE; SWEDEN; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN; YOUNG ADULT;

EID: 84860833493     PISSN: 03642313     EISSN: 14322323     Source Type: Journal    
DOI: 10.1007/s00268-012-1430-6     Document Type: Article

References (24)

1. Ladroue C, Carcenac R, Leporrier M et al (2008) PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 359:2685-2692
2. Burnichon N, Briere JJ, Libe R et al (2010) SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19: 3011-3020
3. Qin Y, Yao L, King EE et al (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42:229-233
4. Schlisio S, Kenchappa RS, Vredeveld LC et al (2008) The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev 22:884-893 (Pubitemid 351482842)
5. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F et al (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43:663-667
6. Neumann HP, Bausch B, McWhinney SR et al (2002) Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
7. Bornstein SR, Gimenez-Roqueplo AP (2006) Genetic testing in pheochromocytoma: increasing importance for clinical decision making. Ann N Y Acad Sci 1073:94-103 (Pubitemid 44912002)
8. Burnichon N, Rohmer V, Amar L et al (2009) The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 94:2817-2827
9. Mannelli M, Castellano M, Schiavi F et al (2009) Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94:1541-1547
10. Cascon A, Pita G, Burnichon N et al (2009) Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab 94:1701-1705
11. Amar L, Bertherat J, Baudin E et al (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23:8812-8818 (Pubitemid 46211527)
12. Korpershoek E, Van Nederveen FH, Dannenberg H et al (2006) Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. Ann N Y Acad Sci 1073:138-148 (Pubitemid 44912006)
13. Barlow L, Westergren K, Holmberg L et al (2009) The completeness of the Swedish Cancer Register: a sample survey for year 1998. Acta Oncol 48:27-33
14. Thompson LDR, Young WFJ, Kawashima A et al (2004) Malignant adrenal phaeochromocytoma. In: DeLellis RA, Lloyd RV, Heitz PU et al (eds) Pathology and genetics of tumours of endocrine organs. IARC Press, Lyon
15. Bayley JP, Devilee P, Taschner PE (2005) The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6:39
16. Ellard S, Shields B, Tysoe C et al (2009) Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomark 13:381-386
17. Farshid G, Cheetham G, Davies R et al (2011) Validation of the multiplex ligation-dependent probe amplification (MLPA) technique for the determination of HER2 gene amplification in breast cancer. Diagn Mol Pathol 20:11-17
18. Mannelli M, Ercolino T, Giache V et al (2007) Genetic screening for pheochromocytoma: Should SDHC gene analysis be included? J Med Genet 44:586-587 (Pubitemid 47441767)
19. Barontini M, Levin G, Sanso G (2006) Characteristics of pheochromocytoma in a 4- to 20-year-old population. Ann N Y Acad Sci 1073:30-37 (Pubitemid 44911995)
20. Benn DE, Gimenez-Roqueplo AP, Reilly JR et al (2006) Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91:827-836 (Pubitemid 43357746)
21. Neumann HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292:943-951 (Pubitemid 39097204)
22. Kiss NB, Geli J, Lundberg F et al (2008) Methylation of the p16INK4A promoter is associated with malignant behavior in abdominal extra-adrenal paragangliomas but not pheochromocytomas. Endocr Relat Cancer 15:609-621 (Pubitemid 351880847)
23. van Nederveen FH, Gaal J, Favier J et al (2009) An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 10:764-771
24. Meyer-Rochow GY, Smith JM, Richardson AL et al (2009) Denaturing high-performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. J Surg Res 157:55-62