Familial pheochromocytomas and paragangliomas: Stories from the sign-out room

Endocrine Pathology

Volumn 17, Issue 4, 2006, Pages 337-344

  Perren, Aurel ^a   Komminoth, Paul ^b  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b Cantonal Hospital Baden   (Switzerland)

Author keywords

MEN2; NF1; Paraganglioma; Pheochromocytoma; SDH; VHL

Indexed keywords

ADULT; CHROMOSOME 10Q; CHROMOSOME 11Q; CHROMOSOME 17Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 3P; CLINICAL ARTICLE; CODON; CONFERENCE PAPER; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOBLASTOMA; HUMAN; KIDNEY CARCINOMA; MALE; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; NF1 GENE; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RET GENE; SDHB GENE; SDHC GENE; SDHD GENE; THYROID MEDULLARY CARCINOMA; VHL GENE; VON HIPPEL LINDAU DISEASE;

ADRENAL GLAND NEOPLASMS; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HIPPEL-LINDAU DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; NEUROFIBROMATOSIS 1; PARAGANGLIOMA, EXTRA-ADRENAL; PHENOTYPE; PHEOCHROMOCYTOMA;

EID: 34347341669     PISSN: 10463976     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12022-006-0005-1     Document Type: Conference Paper

References (15)

1. Schuffenecker I, Ginet N, Goldgar D, et al. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'tude des Tumeurs a Calcitonine. Am J Hum Genet 60(1):233-237, 1997.
2. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23(34):8812-8818, 2005.
3. Koch CA, Mauro D, Walther MM, et al. Pheochromocytoma in von hippel-lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol 13(1):17-27, 2002.
4. Hoffman MA, Ohh M, Yang H, et al. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 10(10):1019-1027, 2001.
5. Eisenhofer G, Huynh TT, Pacak K, et al. 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 11(4):897-911, 2004.
6. Kimura N, Watanabe T, Fukase M, Wakita A, Noshiro T, Kimura I. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. Mod Pathol 15(3):183-188, 2002.
7. Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit sdhb cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69(1):49-54, 2001.
8. Baysal BE, Ferrell RE, Willet-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287(5454):848-851, 2000.
9. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26(3):268-270, 2000.
10. Maier-Woelfle M, Brandle M, Komminoth P, et al. A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. J Clin Endocrinol Metabol 89(1):362-367, 2004.
11. Young AL, Baysal BE, Deb A, Young WF, Jr. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocrinol Metabol 87(9):4101-4105, 2002.
12. Neumann HP, Pawlu C, Peczkowska M, et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943-951, 2004; erratum 292(14):1686, 2004.
13. Dannenberg H, van Nederveen FH, Abbou M, et al. Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. J Clin Oncol 23(9):1894-1901, 2005.
14. Bayley JP, van Minderhout I, Weiss MM, et al. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet 7:1, 2006.
15. Schiavi F, Boedeker CC, Bausch B, et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294(16):2057-2063, 2005; erratum 295(6):628, 2006.