« Previous
Next »
Diagnostic Histopathology
Volume 15, Issue 2
, Pages 61-68
, February 2009
Familial endocrine tumours: phaeochromocytomas and extra-adrenal paragangliomas
References
- . Pheochromocytoma and extra-adrenal paraganglioma: updates. Arch Pathol Lab Med. 2008;132:1272–1284
- . Paraganglia and the adrenal medulla. In: LiVolsi V, Asa S editor. Endocrine pathology. New York: Churchill Livingstone; 2002;p. 149–169
- . Pheochromocytoma of the adrenal gland scaled score (PASS) to separate benign from malignant neoplasms: a clinicopathologic and immunophenotypic study of 100 cases. Am J Surg Pathol. 2002;26:551–566
- . Histological grading of adrenal and extra-adrenal pheochromocytomas and relationship to prognosis: a clinicopathological analysis of 116 adrenal pheochromocytomas and 30 extra-adrenal sympathetic paragangliomas including 38 malignant tumors. Endocr Pathol. 2005;16:23–32
- . Multiple endocrine neoplasia type 1 and 2: from morphology to molecular pathology 1997. Verh Dtsch Ges Pathol. 1997;81:125–138
- . Review: multiple endocrine neoplasia type 1, sporadic neuroendocrine tumors, and MENIN. Diagn Mol Pathol. 1999;8:107–112
- Screening for MEN1 mutations in patients with atypical endocrine neoplasia. Surgery. 1999;126:1097–1103discussion 1093–4
- . WHO classification of tumours: pathology and genetics of tumours of endocrine organs. Lyon: IARC Press; 2004;
- . Multiple endocrine disorders. In: Stefaneanu LS, Sasano HS, Kovacs K editor. Molecular and cellular endocrine pathology. London: Arnold; 2000;p. 375–400
- Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658–5671
- . Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics. 2003;111:E132–E139
- . The RET proto-oncogene in medullary and papillary thyroid carcinoma. Molecular features, pathophysiology and clinical implications. Virchows Arch. 1997;431:1–9
- . Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. Cancer Res. 2006;66:10741–10749
- A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. Cancer Res. 2008;68:1338–1346
- Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol. 2005;23:8812–8818
- Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. Endocr Relat Cancer. 2007;14:453–462
- Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet. 1995;95:551–556
- . Familial pheochromocytomas and paragangliomas: stories from the sign-out room. Endocr Pathol. 2006;17:337–344
- Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet. 2007;72:122–129
- . Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx. Fam Cancer. 2005;4:17–23
- Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. Cancer Res. 1999;59:5560–5564
- . Phaeochromocytoma. Lancet. 2005;366:665–675
- Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas. Int J Cancer. 2003;105:190–195
- Pheochromocytoma in von Hippel-Lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol. 2002;13:17–27
- 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. 2004;11:897–911
- . von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet. 2001;10:1019–1027
- Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. J Clin Endocrinol Metab. 2003;88:2656–2666
- Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44:481–484
- . Multiple gastrointestinal stromal tumors and bilateral pheochromocytoma in neurofibromatosis. World J Gastroenterol. 2007;13:3384–3387
- Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. Am J Surg Pathol. 2006;30:1047–1051
- . von Recklinghausen’s disease and pheochromocytomas. J Urol. 1999;162:1582–1586
- Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab. 2007;92:2784–2792
- Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. J Clin Endocrinol Metab. 2006;91:3478–3481
- . Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen’s disease. Mod Pathol. 2002;15:183–188
- . Variante der Neurofibromatose Typ1. Chirurgische Praxis. 1997;52:203–209
- No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. Endocr Relat Cancer. 2005;12:1011–1016
- Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res. 2005;63:171–179
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848–851
- Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. J Clin Oncol. 2005;23:1894–1901
- Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res. 2002;8:2061–2066
- Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf). 2003;59:728–733
- Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. Ann N Y Acad Sci. 2006;1073:190–197
- Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet. 2006;7:1
- . Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab. 2007;92:1245–1248
- . Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000;26:268–270
- Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005;294:2057–2063
- Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008;16:79–88
- Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003;63:5615–5621
- A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. J Clin Endocrinol Metab. 2004;89:362–367
- Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst. 2008;100:1260–1262
- Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet. 2004;74:153–159
- . Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet. 1995;95:56–62
- Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res. 2005;65:9651–9658
- Genetics of Carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab. 2007;92:2938–2943
- . Carney triad: case report and molecular analysis of gastric tumor. Hum Pathol. 2005;36:112–116
- Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007;92:3321–3325
- Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006;103:15558–15563
PII: S1756-2317(09)00002-4
doi: 10.1016/j.mpdhp.2009.01.003
© 2009 Elsevier Ltd. All rights reserved.
« Previous
Next »
Diagnostic Histopathology
Volume 15, Issue 2
, Pages 61-68
, February 2009

