Molecular and clinical evidence for an ARMC5 tumor syndrome: Concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 1, 2015, Pages E119-E128

  Elbelt, Ulf ^a   Trovato, Alessia ^a   Kloth, Michael ^b   Gentz, Enno ^a   Finke, Reinhard ^c   Spranger, Joachim ^a   Galas, David ^d,e   Weber, Susanne ^f   Wolf, Cristina ^d,f   König, Katharina ^b   Arlt, Wiebke ^g   Büttner, Reinhard ^b   May, Patrick ^d,h   Allolio, Bruno ⁱ   Schneider, Jochen G ^d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c Praxisgemeinschaft an der Kaisereiche   (Germany)

^d UNIVERSITY OF LUXEMBOURG   (Luxembourg)

^e PACIFIC NORTHWEST RESEARCH INSTITUTE   (United States)

^f SAARLAND UNIVERSITY   (Germany)

^g UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^h INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

ⁱ UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL HYPERPLASIA; ADULT; AGED; ARMC5 GENE; ARTICLE; CAUSAL ATTRIBUTION; CHROMOSOME 16; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE INACTIVATION; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; MALE; MENINGIOMA; MIDDLE AGED; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRIMARY MACRONODULAR ADRENAL HYPERPLASIA; SEQUENCE ANALYSIS; SOMATIC MUTATION; YOUNG ADULT; ADRENAL CORTEX DISEASE; CUSHING SYNDROME; GENETICS; HYPERPLASIA; PATHOLOGY; PEDIGREE;

ARMADILLO;

ARMC5 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADRENAL CORTEX DISEASES; ADULT; CUSHING SYNDROME; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERPLASIA; MALE; MENINGEAL NEOPLASMS; MENINGIOMA; PEDIGREE; TUMOR SUPPRESSOR PROTEINS;

EID: 84920561111     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2648     Document Type: Article

References (48)

1. Christopoulos S , Bourdeau I, Lacroix A. Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors. Horm Res. 2005;64:119-131.
2. Lacroix A. ACTH-independent macr onodular adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23:245-259.
3. De LeoM,Cozzolino A, Colao A, Pivonello R. Subclinical Cushing's syndrome. Best Pract Res Clin Endocrinol Metab. 2012;26:497-505.
4. Mauras N, Blizzard RM. The McCune-Albright syndrome. Acta Endocrinol Suppl (Copenh). 1986;279:207-217.
5. Weinstein LS,Shenker A,Gejman PV,Merino MJ,Friedman E,Spiegel AM Activating mutations of the stimulatoryGprotein in the McCune-Albright syndrome NEngl J Med. 1991 325, 1688-1695.
6. Kirk JM, Brain CE, Carson DJ, Hyde JC, Grant DB. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr. 1999;134:789-792.
7. Skogseid B, Larsson C, Lindgren PG, et al. Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1992;75:76-81.
8. Burgess JR, Harle RA, Tucker P, et al. Adrenal lesions in a large kindred with multiple endocrine neoplasia type 1. Arch Surg. 1996; 131:699-702.
9. Hsiao HP, Kirschner LS, Bourdeau I, et al. Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyp erplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab. 2009;94:2930-2937.
10. Yamakita N, Murai T, Ito Y, et al. Adrenocorticotropin-independent macronodular adrenocortical hyperplasia associated with multiple colon adenomas/carcinomas which showed a point mutation in the APC gene. Intern Med. 1997;36:536-542.
11. Marchesa P, Fazio VW, Church JM, McGannon E. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum. 1997;40:1023-1028.
12. Matyakhina L, Freedman RJ, Bourdeau I, et al. Hereditary leiomyomatosis associated with bilateral , massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. J Clin Endocrinol Metab. 2005;90: 3773-3779.
13. Fragoso MC, Domenice S, Latro nico AC, et al. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab. 2003;88:2147-2151.
14. Swain JM, Grant CS, Schlinkert RT, et al. Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. Arch Surg. 1998;133:541-545.
15. Findlay JC, She eler LR, Engeland WC, Aron DC. Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 1993; 76:189-191.
16. Minami S, Sugihara H, Sato J, et al. ACTH independent Cushing's syndrome occurring in siblings. Clin Endocrinol (Oxf). 1996;44: 483-488.
17. Nies C, Bartsch DK, Ehlenz K, et al. Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members. Exp Clin Endocrinol Diabetes. 2 002;110:277-283.
18. Miyamura N, Taguchi T, Murata Y, et al. Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland. Endocrine. 2002;19:319-326.
19. Lee S, Hwang R, Lee J, et al. Ectopic expression of vasopressin V1b and V2 receptors in the adrenal g lands of familial ACTH-independent macronodular adrenal hyperplasia. Clin Endocrinol (Oxf). 2005;63:625-630.
20. Vezzosi D, Cartier D, Regnier C, et al. Familial adrenocorticotropinindependent ma cronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors. Eur J Endocrinol. 2007; 156:21-31.
21. Zhu J, Cui L, Wang W, et al. Whole exome sequencing identifies mut ation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia. Fam Cancer. 2013;12:657-667.
22. Reznik Y, Allali-Zerah V, Chayvialle JA, et al. Food-dependent Cushing's syndrome m ediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. N Engl J Med. 1992;327:981-986.
23. Lacroix A, Bolte E, Tremblay J, et al. Gastric inhibitory polypeptidedependent cortisol hypersecretion-A new cause of Cushing's syndrome. N Engl J Med. 1992;327:974-980.
24. L acroix A, Tremblay J, Rousseau G, Bouvier M, Hamet P. Propranolol therapy for ectopic-Adrenergic receptors in adrenal Cushing's syndrome. N Engl J Med. 1997;337:1429-1434.
25. Lacroix A, Hamet P, Boutin JM. Leuprolide acetate therapy in luteinizing hormone-dependent Cushing's syndrome. N Engl J Med. 1999;341:1577-1581.
26. Willenberg HS, Stratakis CA, Marx C, Ehrhart-Bornst ein M, Chrousos GP, Bornstein SR. Aberrant interleukin-1 receptors in a cortisol-secreting adrenal adenoma causing Cushing's syndrome.N Engl J Med. 1998;339:27-31.
27. Horiba N,Suda T,Aiba M,et al. Lysine vasopressin stimulation of cortisol secretion in patients with adrenocorticotropin-independent macronodular adrenal hyperplasia J Clin Endocrinol Metab. 1995 80 2336-2341.
28. Cartier D, Lihrmann I, Parmentier F, et al. Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome. J Clin Endocrinol Metab. 2003;88:248-254.
29. Pralong FP, Gomez F, Guillou L, Mosimann F, Franscella S, Gaillard RC. Food-dependent Cushing's syndrome: possible involvement of leptin in cortisol hypersecretion. J Clin Endocr inol Metab. 1999; 84:3817-3822.
30. Louiset E, Duparc C, Young J, et al. Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N Engl J Med. 2013; 369:2115-2125.
31. Lacroix A. Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia. N Engl J Med. 2013;369:2147-2149.
32. Alencar GA, Lerario AM, Nishi MY, et al. ARMC5 Mutations are a frequent cause of primary macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014;jc20134237.
33. Libe R, Fratticci A, Coste J, et al. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res. 2008;14:4016-4024.
34. Rothenbuhler A, Horvath A, Libe R, et al. Identification of novel genetic variants in phosphodiesterase 8B (PD E8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours. Clin Endocrinol (Oxf). 2012; 77:195-199.
35. Vezzosi D, Libe R, Baudry C, et al. Phosphodiesterase 11A (PDE11A) gene defects in patients with ACTH-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. J Clin Endocrinol Metab. 20 12;97:E2063-E2069.
36. Assie G, Libe R, Espiard S, et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013;369:2105-2114.
37. Faucz FR, Zilbermint M, Lodish MB, et al. Macronodular Adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014;jc20 134280.
38. Arlt W, Biehl M, Taylor AE, et al. Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors. J Clin Endocrinol Metab. 2011;96:3775-3784.
39. Drmanac R, Sparks AB, Callow MJ, et al. Human genome sequencing using unchained base reads on self-AssemblingDNAnanoarrays. Science. 2010;327:78-81.
40. Jones JO, Chin SF, Wong-Taylor LA, et al. TOX3 mutations in breast cancer. PLoS One. 2013;8:e74102.
41. Shan J, Dsouza SP, Bakhru S, et al. TNRC9 downregulates BRCA1 expression and promotes breast cancer aggressiveness. Cancer Res. 2013;73:2840-2849.
42. Yuan SH, Qiu Z, Ghosh A. TOX3 regulates calcium-dependent transcription in neurons. Proc Natl Acad Sci USA. 2009;106:2909-2914.
43. Aboukais R, Zairi F, Baroncini M, et al. Intracranial meningiomas and neurofibromatosis type 2. Acta Neurochir (Wien). 2013;155: 997-1001.
44. Schwarz JM, Rodel sperger C, Schuelke M, Seelow D. Mutation-Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
45. Berthon A, Martinez A, Bertherat J, Val P. Wnt/-catenin signalling in adrenal physiology and tumour development. Mol Cell Endocrinol. 2012;351:87-95.
46. Gagliardi L, Schreiber AW, Hahn CN, et al. ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014;jc20141265.
47. Zirn B, Arning L, Bartels I, et al. Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. Clin Genet. 2012; 81:82-87.
48. Smith MJ,O'Sullivan J,Bhaskar SS,et al. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas Nat Genet. 2013 45 295-298.