Genetics of Cushing's Syndrome

被引：32

作者：

Hernandez-Ramirez, Laura C. ^{[1
]}

Stratakis, Constantine A. ^{[1
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet SEGEN, NIH, CRC, 10 Ctr Dr,Room 1E-3216, Bethesda, MD 20892 USA

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2018年 / 47卷 / 02期

关键词：

Cushing's syndrome; Glucocorticoids; ACTH; Corticotropinoma; Pituitary adenoma; Adrenal hyperplasia; cAMP; USP8; ENDOCRINE NEOPLASIA TYPE-1; MACRONODULAR ADRENAL-HYPERPLASIA; PITUITARY-ADENOMA PREDISPOSITION; MEDULLARY-THYROID CARCINOMA; INTERACTING PROTEIN AIP; BETA-CATENIN GENE; ARMC5; MUTATIONS; CARNEY COMPLEX; HEREDITARY LEIOMYOMATOSIS; CONSTITUTIVE ACTIVATION;

D O I：

10.1016/j.ecl.2018.02.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The knowledge on the molecular and genetic causes of Cushing's syndrome (CS) has greatly increased in the recent years. Somatic mutations leading to overactive 3',5'-cyclic adenosine monophosphate/protein kinase A and wingless-type MMTV integration site family/beta-catenin pathways are the main molecular mechanisms underlying adrenocortical tumorigenesis. Corticotropinomas are characterized by resistance to glucocorticoid negative feedback, impaired cell cycle control, and overexpression of pathways sustaining adrenocorticotropic hormone secretion. Recognizing the genetic defects behind corticotroph and adrenocortical tumorigenesis proves crucial for tailoring the clinical management of patients with CS and for designing strategies for genetic counseling and clinical screening to be applied in routine medical practice.

引用

收藏

页码：275 / +

页数：24

相关论文

共 156 条

[1] Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States [J].

Agarwal, Sunita K. ;

Mateo, Carmen M. ;

Marx, Stephen J. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (05) :1826-1834

[2] ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia [J].

Alencar, Guilherme Asmar ;

Lerario, Antonio Marcondes ;

Nishi, Mirian Yumie ;

de Paula Mariani, Beatriz Marinho ;

Almeida, Madson Queiroz ;

Tremblay, Johanne ;

Hamet, Pavel ;

Bourdeau, Isabelle ;

Nogueira Zerbini, Maria Claudia ;

Albergaria Pereira, Maria Adelaide ;

Gomes, Gilberto Carlos ;

Rocha, Manoel de Souza ;

Chambo, Jose Luis ;

Lacroix, Andre ;

Mendonca, Berenice Bilharinho ;

Barisson Villares Fragoso, Maria Candida .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (08) :E1501-E1509

[3] Glucocorticoid receptor gene polymorphisms in ACTH-secreting pituitary tumours [J].

Antonini, SRR ;

Latronico, AC ;

Elias, LLK ;

Cukiert, A ;

Machado, HR ;

Liberman, B ;

Mendonca, BB ;

Moreira, AC ;

Castro, M .

CLINICAL ENDOCRINOLOGY, 2002, 57 (05) :657-662

[4] ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome [J].

Assie, Guillaume ;

Libe, Rossella ;

Espiard, Stephanie ;

Rizk-Rabin, Marthe ;

Guimier, Anne ;

Luscap, Windy ;

Barreau, Olivia ;

Lefevre, Lucile ;

Sibony, Mathilde ;

Guignat, Laurence ;

Rodriguez, Stephanie ;

Perlemoine, Karine ;

Rene-Corail, Fernande ;

Letourneur, Franck ;

Trabulsi, Bilal ;

Poussier, Alix ;

Chabbert-Buffet, Nathalie ;

Borson-Chazot, Francoise ;

Groussin, Lionel ;

Bertagna, Xavier ;

Stratakis, Constantine A. ;

Ragazzon, Bruno ;

Bertherat, Jerome .

NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (22) :2105-2114

[5] A 27-year-old woman with two intracardiac masses and a history of endocrinopathy. Cardiac myxomas arising from the left atrium and the mitral-valve apparatus, consistent with Carney complex. [J].

Basson, CT ;

Chow, CM ;

Scully, RE ;

Crigler, JF ;

Aretz, HT .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (15) :1152-1158

[6] The clinical, pathological, and genetic features of familial isolated pituitary adenomas [J].

Beckers, Albert ;

Daly, Adrian F. .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2007, 157 (04) :371-382

[7] Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene [J].

Beckers, Albert ;

Aaltonen, Lauri A. ;

Daly, Adrian F. ;

Karhu, Auli .

ENDOCRINE REVIEWS, 2013, 34 (02) :239-277

[8] Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain [J].

Belar, Oihana ;

De La Hoz, Carmen ;

Perez-Nanclares, Gustavo ;

Castano, Luis ;

Gaztambide, Sonia .

CLINICAL ENDOCRINOLOGY, 2012, 76 (05) :719-724

[9] Genetic testing in pheochromocytoma-and paraganglioma-associated syndromes [J].

Benn, Diana E. ;

Richardson, Anne Louise ;

Marsh, Deborah J. ;

Robinson, Bruce G. .

PHEOCHROMOCYTOMA, 2006, 1073 :104-111

[10] Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function [J].

Berthon, A. ;

Faucz, F. R. ;

Espiard, S. ;

Drougat, L. ;

Bertherat, J. ;

Stratakis, C. A. .

HUMAN MOLECULAR GENETICS, 2017, 26 (18) :3495-3507

← 1 2 3 4 5 6 7 8 9 10 →