Mechanisms of disease: Adrenocortical tumors - Molecular advances and clinical perspectives

Nature Clinical Practice Endocrinology and Metabolism

Volumn 2, Issue 11, 2006, Pages 632-641

  Bertherat, Jérôme ^a,b,c   Groussin, Lionel ^a   Bertagna, Xavier ^a,c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSTITUT COCHIN   (France)

^c University of Paris 5 ^*  (France)

Author keywords

catenin; Adrenocortical tumors; Cushing's syndrome; Cyclic AMP; Primary pigmented nodular adrenocortical disease

Indexed keywords

PROTEIN P53;

ADRENAL CORTEX TUMOR; ALLELE; GENE LOCATION; GENE MUTATION; GENE OVEREXPRESSION; GERM LINE; HUMAN; MEMBRANE TRANSPORT; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ADRENAL CORTEX NEOPLASMS; ADRENOCORTICAL ADENOMA; ANTINEOPLASTIC AGENTS; DRUG DESIGN; HUMANS; MODELS, BIOLOGICAL; PROGNOSIS; SIGNAL TRANSDUCTION;

EID: 33750612114     PISSN: 17458366     EISSN: 17458374     Source Type: Journal    
DOI: 10.1038/ncpendmet0321     Document Type: Review

References (54)

1. Grumbach MM et al. (2003) Management of the clinically inapparent adrenal mass ("incidentaloma"). Ann Intern Med 138: 424-429
2. Luton JP et al. (1990) Clinical features of adrenocortical carcinoma, prognostic factors, and the effect of mitotane therapy. N Engl J Med 322: 1195-1201
3. Coulter LC (2005) Fetal adrenal develoment: insight gained from adrenal tumors. Trends Endocrinol Metab 16: 235-242
4. Else T and Hammer GD (2005) Genetics analysis of adrenal absence: agenesis and aplasia. Trends Endocrinol Metab 16: 458-468
5. Gicquel C et al. (1994) Clonal analysis of human adrenocortical carcinomas and secreting adenomas. Clin Endocrinol (Oxf) 40: 465-477
6. Beuschlein F et al. (1994) Clonal composition of human adrenocortical neoplasms. Cancer Res 54: 4927-4932
7. Kjellman M et al. (1999) Genotyping of adrenocortical tumors: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16. J Clin Endocrinol Metab 84: 730-735
8. Sidhu S et al. (2002) Comparative genomic hybridization analysis of adrenocortical tumors. J Clin Endocrinol Metab 87: 3467-3474
9. Bertherat J and Gimenez-Roqueplo AP (2005) New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. Horm Metab Res 37: 384-390
10. Hisada M et al. (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90: 606-611
11. Varley JM et al. (1999) Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65: 995-1006
12. Ribeiro RC et al. (2001) An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA 98: 9330-9335
13. Latronico AC et al. (2001) An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J Clin Endocrinol Metab 86: 4970-4973
14. DiGiammarino EL et al. (2002) A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. Nat Struct Biol 9: 12-16
15. Libe R and Bertherat J (2005) Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 153: 477-487
16. Gicquel C et al. (2001) Molecular markers and long-term recurrences in a large cohort of patients with sporadic adrenocortical tumors. Cancer Res 61: 6762-6767
17. Gaston V et al. (2001) Analysis of the methylation status of the KCNQ10T and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 9: 409-418
18. Giordano TJ et al. (2003) Distinct transcriptional profiles of adrenocortical tumors uncovered by DNA microarray analysis. Am J Pathol 162: 521-531
19. de Fraipont F et al. (2005) Gene expression profiling of human adrenocortical tumors using complementary deoxyribonucleic acid microarrays identifies several candidate genes as markers of malignancy. J Clin Endocrinol Metab 90: 1819-1829
20. Thakker RV (1998) Multiple endocrine neoplasia-syndromes of the twentieth century. J Clin Endocrinol Metab 83: 2617-2620
21. Schulte KM et al. (2000) Complete sequencing and messenger ribonucleic acid expression analysis of the MEN I gene in adrenal cancer. J Clin Endocrinol Metab 85: 441-448
22. Carney JA et al. (1985) The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64: 270-283
23. Kirschner LS et al. (2000) Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 9: 3037-3046
24. Kirschner LS et al. (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
25. Groussin L et al. (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: 1432-1442
26. Groussin L et al. (2002) Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 87: 4324-4329
27. Bertherat J et al. (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
28. Swords FM et al. (2002) Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity. Mol Endocrinol 16: 2746-2753
29. Reincke M et al. (1997) Deletion of the adrenocorticotropin receptor gene in human adrenocortical tumors: implications for tumorigenesis. J Clin Endocrinol Metab 82: 3054-3058
30. Weinstein LS et al. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325: 1688-1695
31. sα mutations: analysis of 113 patients with signs of McCune-Albright syndrome-a European Collaborative Study. J Clin Endocrinol Metab 89: 2107-2113
32. sα subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer 72: 1386-1393
33. Dall'Asta C et al. (2004) Assessing the presence of abnormal regulation of cortisol secretion by membrane hormone receptors: in vivo and in vitro studies in patients with functioning and non-functioning adrenal adenoma. Horm Metab Res 36: 578-583
34. Fragoso MC et al. (2003) Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab 88: 2147-2151
35. Lacroix A et al. (1992) Gastric inhibitory polypeptide-dependent cortisol hypersecretion-a new cause of Cushing's syndrome. N Engl J Med 327: 974-980
36. Reznik Y et al. (1992) Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. N Engl J Med 327: 981-986
37. Mazzuco TL et al. (2006) Ectopic expression of the gastric inhibitory polypeptide receptor gene is a sufficient genetic event to induce benign adrenocortical tumor in a xenotransplantation model. Endocrinology 147: 782-790
38. Lacroix A et al. (2001) Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome. Endocr Rev 22: 75-110
39. Horvath A et al. (2006) A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 38: 794-800
40. Horvath A et al. (2006) Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation. J Clin Endocrinol Metab 91: 584-596
41. Nadella KS and Kirschner LS (2005) Disruption of protein kinase A regulation causes immortalization and dysregulation of D-type cyclins. Cancer Res 65: 10307-10315
42. Griffin KJ et al. (2004) A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumors: comparison with Carney complex and other PRKAR1A induced lesions. J Med Genet 41: 923-931
43. Robinson-White A et al. (2003) Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet 12: 1475-1484
44. Kikuchi A (2003) Tumor formation by genetic mutations in the components of the Wnt signaling pathway. Cancer Sci 94: 225-229
45. Naylor EW and Gardner EJ (1981) Adrenal adenomas in a patient with Gardner's syndrome. Clin Genet 20: 67-73
46. Blaker H et al. (2004) Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 41: 93-98
47. Bourdeau I et al. (2004) Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators. Oncogene 23: 1575-1585
48. Tissier F et al. (2005) Mutations of β-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res 65: 7622-7627
49. Feige JJ et al. (1998) Fine tuning of adrenocortical functions by locally produced growth factors. J Endocrinol 158: 7-19
50. Xing M et al. (2005) BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab 90: 6373-6379
51. Rosenberg D et al. (2002) Role of the PKA-regulated transcription factor CREB in development and tumorigenesis of endocrine tissues. Ann NY Acad Sci 968: 65-74
52. Stratakis CA et al. (1999) Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 131: 585-591
53. Bertherat J et al. (2005) In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercortisolism. J Clin Endocrinol Metab 90: 1302-1310
54. Kirschner LS (2006) Emerging treatment strategies for adrenocortical carcinoma: a new hope. J Clin Endocrinol Metab 91: 14-21