Adrenocortical cancer in carney complex: A paradigm of endocrine tumor progression or an association of genetic predisposing factors?

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 2, 2012, Pages 387-390

  Bertherat, Jérôme ^a,b  

^a INSERM   (France)

^b Institut Cochin   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; HYDROCORTISONE; MESSENGER RNA; MITOTANE;

ADRENAL CORTEX CARCINOMA; ADULT; CANCER SURGERY; CARNEY COMPLEX; CASE REPORT; DISEASE COURSE; EDITORIAL; FEMALE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HEART MYXOMA; HUMAN; HYDROCORTISONE RELEASE; LAPAROSCOPY; LENTIGINOSIS; LIVER METASTASIS; LUNG METASTASIS; POINT MUTATION; PRIORITY JOURNAL; PRKAR1A GENE; STOP CODON; TUMOR GROWTH; TUMOR SUPPRESSOR GENE;

ADRENAL CORTEX NEOPLASMS; ADRENAL GLAND DISEASES; ADRENOCORTICAL CARCINOMA; CARNEY COMPLEX; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; FEMALE; HUMANS; MALE;

EID: 84856810146     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-3327     Document Type: Editorial

References (21)

1. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL 1985 The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64:270-283 (Pubitemid 16247109)
2. Carney JA, Young WF 1992 Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist 2:6-21
3. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA 2000 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet 26:89-92
4. Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA 2010 Mutations and polymorphisms in the gene encoding regulatory subunit type 1-αof protein kinase A (PRKAR1A): an update. Hum Mutat 31:369-379
5. Fassnacht M, Allolio B 2009 Clinical management of adrenocortical carcinoma. Best Pract Res Clin Endocrinol Metab 23:273-289
6. Bernard MH, Sidhu S, Berger N, Peix JL, Marsh DJ, Robinson BG, Gaston V, Le Bouc Y, Gicquel C 2003 A case report in favor of a multistep adrenocortical tumorigenesis. J Clin Endocrinol Metab 88:998-1001 (Pubitemid 36337746)
7. Gaujoux S, Tissier F, Groussin L, Libé R, Ragazzon B, Launay P, Audebourg A, Dousset B, Bertagna X, Bertherat J 2008 Wnt/β-catenin and cAMP/PKA signaling pathways alterations and somatic β-catenin gene mutations in the progression of adrenocortical tumors. J Clin Endocrinol Metab 93:4135-4140
8. Grumbach MM, Biller BM, Braunstein GD, Campbell KK, Carney JA, Godley PA, Harris EL, Lee JK, Oertel YC, Posner MC, Schlechte JA, Wieand HS 2003 Management of the clinically inapparent adrenal mass ("incidentaloma") . Ann Intern Med 138:424-429 (Pubitemid 36262654)
9. Libé R, Bertherat J 2005 Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 153:477-487 (Pubitemid 41568145)
10. Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA 2003 Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer Res 63:5308-5319 (Pubitemid 37139845)
11. Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J 2002 Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD)reveals novel mutations and clues for pathophysiology. Am J Hum Genet 71:1433-1442 (Pubitemid 36018745)
12. Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA 2009 Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase (PRKAR1A): pheno-type analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085-2091
13. Groussin L, Massias JF, Bertagna X, Bertherat J 2000 Loss of expression of the ubiquitous transcription factor cAMP response element-binding protein (CREB) and compensatory overexpression of the activator CREMt in the human adrenocortical cancer cell line H295R. J Clin Endocrinol Metab 85:345-354 (Pubitemid 32268836)
14. Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J 2002 Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease (PPNAD). J Clin Endocrinol Metab 87:4324-4329
15. Gaujoux S, Grabar S, Fassnacht M, Ragazzon B, Launay P, Libé R, Chokri I, Audebourg A, Royer B, Sbiera S, Vacher-Lavenu MC, Dousset B, Bertagna X, Allolio B, Bertherat J, Tissier F 2011 β-Catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma. Clin Cancer Res 17:328-336
16. Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA 2011 Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab 96:E208-E214
17. Almeida MQ, Muchow M, Boikos S, Bauer AJ, Griffin KJ, Tsang KM, Cheadle C, Watkins T, Wen F, Starost MF, Bossis I, Nesterova M, Stratakis CA 2010 Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling. Hum Mol Genet 19:1387-1398
18. Miller BS, Ammori JB, Gauger PG, Broome JT, Hammer GD, Doherty GM 2010 Laparoscopic resection is inappropriate in patients with known or suspected adrenocortical carcinoma. World J Surg 34:1380-1385
19. Brix D, Allolio B, Fenske W, Agha A, Dralle H, Jurowich C, Langer P, Mussack T, Nies C, Riedmiller H, Spahn M, Weismann D, Hahner S, Fassnacht M 2010 Laparoscopic versus open adrenalectomy for adrenocortical carcinoma: surgical and oncologic outcome in 152 patients. Eur Urol 58:609-615
20. Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA 2012 A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocrinol Metab 97:351-359
21. Morin E, Mete O, Wasserman J, Joshua AM, Asa SL 2012 Carney complex with adrenal cortical carcinoma. J Clin Endocrinol Metab 97:E202-E206