Inherited endocrinopathies: An update

被引：10

作者：

Lewis, Catherine E. ^{[1
]}

Yeh, Michael W. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Gen Surg, Los Angeles, CA 90095 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 94卷 / 03期

关键词：

multiple endocrine neoplasia type 1 (MEN-1); menin; pancreatic neurcendocrine tumors; multiple endocrine neoplasia type 2 (MEN-2A and MEN-2B); RET; medullary thyroid cancer; pheochromocytoma; von Hippel-Lindau disease (VHL); neurofibromatosis type 1 (NF-1); paraganglioma syndromes; succinate dehydrogenase subunit B and D (SDHB and SDHD);

D O I：

10.1016/j.ymgme.2008.03.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited endocrinopathies, including multiple endocrine neoplasia type 1 (MEN-1), multiple endocrine neoplasia type 2 syndromes (MEN-2A, MEN-2B, familial medullary thyroid carcinoma), and inherited syndromes with pheochromocytoma (von Hippel-Lindau disease, neurofibromatosis type 1, others), comprise a heterogeneous group of cancer susceptibility syndromes that affect one or more components of the endocrine system. During the past several years, novel findings regarding genotype-phenotype correlation have highlighted the importance of establishing a genetic diagnosis in the treatment of these diseases. Here, we present a case-based review of recent advances in the genetics, diagnosis and management of inherited enclocrinopathies. (c) 2008 Elsevier Inc. All rights reserved.

引用

页码：271 / 282

页数：12

共 87 条

[1] Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states [J].

Agarwal, SK ;

Kester, MB ;

Debelenko, LV ;

Heppner, C ;

EmmertBuck, MR ;

Skarulis, MC ;

Doppman, JL ;

Kim, YS ;

Lubensky, IA ;

Zhuang, ZP ;

Green, JS ;

Guru, SC ;

Manickam, P ;

Olufemi, SE ;

Liotta, LA ;

Chandrasekharappa, SC ;

Collins, FS ;

Spiegel, AM ;

Burns, AL ;

Marx, SJ .

HUMAN MOLECULAR GENETICS, 1997, 6 (07) :1169-1175

[2] RET tyrosine kinase signaling in development and cancer [J].

Arighi, E ;

Borrello, MG ;

Sariola, H .

CYTOKINE & GROWTH FACTOR REVIEWS, 2005, 16 (4-5) :441-467

[3] Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility [J].

Astuti, D ;

Hart-Holden, N ;

Latif, F ;

Lalloo, F ;

Black, GC ;

Lim, C ;

Moran, A ;

Grossman, AB ;

Hodgson, SV ;

Freemont, A ;

Ramsden, R ;

Eng, C ;

Evans, DGR ;

Maher, ER .

CLINICAL ENDOCRINOLOGY, 2003, 59 (06) :728-733

[4] Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1 [J].

Balogh, K ;

Patócs, A ;

Majnik, J ;

Rácz, K ;

Hunyady, L .

MOLECULAR GENETICS AND METABOLISM, 2004, 83 (1-2) :74-81

[5] Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRα3-RET receptor complex [J].

Baloh, RH ;

Tansey, MG ;

Lampe, PA ;

Fahrner, TJ ;

Enomoto, H ;

Simburger, KS ;

Leitner, ML ;

Araki, T ;

Johnson, EM ;

Milbrandt, J .

NEURON, 1998, 21 (06) :1291-1302

[6] Characterization of mutations in patients with multiple endocrine neoplasia type 1 [J].

Bassett, JHD ;

Forbes, SA ;

Pannett, AAJ ;

Lloyd, SE ;

Christie, PT ;

Wooding, C ;

Edwards, CR ;

Monson, JP ;

Sampson, J ;

Wass, JAH ;

Harding, B ;

Besser, GM ;

Wheeler, MH ;

Thakker, RV .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :232-244

[7] Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1 [J].

Bausch, Birke ;

Borozdin, Wiktor ;

Mautner, Victor F. ;

Hoffmann, Michael M. ;

Boehm, Detlef ;

Robledo, Mercedes ;

Cascon, Alberto ;

Harenberg, Tomas ;

Schiavi, Francesca ;

Pawlu, Christian ;

Peczkowska, Mariola ;

Letizia, Claudio ;

Calvieri, Stefano ;

Arnaldi, Giorgio ;

Klingenberg-Noftz, Rolf D. ;

Reisch, Nicole ;

Fassina, Ambrogio ;

Brunaud, Laurent ;

Walter, Martin A. ;

Mannelli, Massimo ;

MacGregor, Graham ;

Palazzo, F. Fausto ;

Barontini, Marta ;

Walz, Martin K. ;

Kremens, Bernhard ;

Brabant, Georg ;

Pfäffle, Roland ;

Koschker, Ann-Cathrin ;

Lohoefner, Felix ;

Mohaupt, Markus ;

Gimm, Oliver ;

Jarzab, Barbara ;

McWhinney, Sarah R. ;

Opocher, Giuseppe ;

Januszewicz, Andrzej ;

Kohlhase, Juergen ;

Eng, Charis ;

Neumann, Hartmut P. H. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (07) :2784-2792

[8] Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes [J].

Bauters, C ;

Vantyghem, MC ;

Leteurtre, E ;

Odou, MF ;

Mouton, C ;

Porchet, N ;

Wemeau, JL ;

Proye, C ;

Pigny, P .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (06)

[9] Hereditary paraganglioma target's diverse paraganglia [J].

Baysal, BE .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) :617-622

[10] Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes [J].

Benn, DE ;

Gimenez-Roqueplo, AP ;

Reilly, JR ;

Bertherat, J ;

Burgess, J ;

Byth, K ;

Croxson, M ;

Dahia, PLM ;

Elston, M ;

Gimm, O ;

Henley, D ;

Herman, P ;

Murday, V ;

Niccoli-Sire, P ;

Pasieka, JL ;

Rohmer, V ;

Tucker, K ;

Jeunemaitre, X ;

Marsh, DJ ;

Plouin, PF ;

Robinson, BG .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03) :827-836

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