Familial pheochromocytomas and paragangliomas: Stories from the sign-out room
Tóm tắt
In this overview we present five patients with apparently sporadic pheochromocytomas or paragangliomas which turned out to be associated with an inheritable familial disease. For each patient a family history together with clinical, morphological, as well as molecular data are reported. The identified syndromes include multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), and familial pheochromocytoma/paraganglioma syndrome (SDHx). A brief summary of phenotypes, the genes involved, and typical mutations in these syndromes is provided.
Tài liệu tham khảo
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'Etude des Tumeurs a Calcitonine. Am J Hum Genet 60(1):233–237, 1997.
Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23(34):8812–8818, 2005.
Koch CA, Mauro D, Walther MM, et al. Pheochromocytoma in von hippel-lindau disease: distincr histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol 13(1):17–27, 2002.
Hoffman MA, Ohh M, Yang H, et al. von Hippel-Lindau protein mutants linked to type 2C VHI. disease preserve the ability to downregulate HIF. Hum Mol Gener 10(10):1019–1027, 2001.
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 Relar Cancer 11(1):897–911, 2004.
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.
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
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.
Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma type 3. Nat Genet 26(3):268–270, 2000.
Maier-Woelfle M, Brandle M, Komminoth P, et al. A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragain-gliomas. J Clin Endocrinol Metabol 89(1):362–367, 2004.
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.
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.
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.
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.
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.