Carney complex and other conditions associated with micronodular adrenal hyperplasias

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 24, Issue 6, 2010, Pages 907-914

  Almeida, Madson Q ^a   Stratakis, Constantine A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Carney complex; Phosphodiesterase; PPNAD; PRKAR1A

Indexed keywords

CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; MESSENGER RNA; PHOSPHODIESTERASE; PHOSPHODIESTERASE 11A; PHOSPHODIESTERASE 8B; UNCLASSIFIED DRUG;

ACROMEGALY; ADRENAL CORTEX TUMOR; ADRENAL HYPERPLASIA; BLUE NEVUS; BREAST ADENOMA; CARCINOGENESIS; CARNEY COMPLEX; CLINICAL FEATURE; CODON; CUSHING SYNDROME; DISEASE ASSOCIATION; ENDOCRINE TUMOR; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HEART MYXOMA; HETEROZYGOTE; HUMAN; INCIDENCE; LENTIGINOSIS; MISSENSE MUTATION; MYXOMA; NEURILEMOMA; NONHUMAN; PHENOTYPE; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PROTEIN EXPRESSION; REVIEW; SIGNAL TRANSDUCTION; SKIN PIGMENTATION; THYROID CARCINOMA;

ADRENAL GLAND DISEASES; ANIMALS; CARNEY COMPLEX; CYCLIC AMP; CYCLIC AMP-DEPENDENT PROTEIN KINASES; HUMANS; SIGNAL TRANSDUCTION;

EID: 78649650474     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2010.10.006     Document Type: Review

References (51)

1. J.A. Carney, H. Gordon, and P.C. Carpenter The complex of myxomas, spotty pigmentation, and endocrine overactivity Medicine (Baltimore) 64 1985 270 283
2. J.A. Carney Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas Semin. Dermatol. 14 1995 90 98
3. S.A. Boikos, and C.A. Stratakis Carney complex: the first 20 years Curr. Opin. Oncol. 19 2007 24 29
4. A.R. Rhodes, R.A. Silverman, and T.J. Harrist Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the "LAMB" syndrome J. Am. Acad. Dermatol. 10 1984 72 82
5. D.J. Atherton, D.W. Pitcher, and R.S. Wells A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome Br. J. Dermatol. 103 1980 421 429
6. J. Bertherat, A. Horvath, and L. Groussin Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes J. Clin. Endocrinol. Metab. 94 2009 2085 2091
7. C.A. Stratakis, L.S. Kirschner, and J.A. Carney Clinical and molecular features of the carney complex: diagnostic criteria and recommendations for patient evaluation J. Clin. Endocrinol. Metab. 86 2001 4041 4046
8. S.A. Boikos, and C.A. Stratakis Carney complex: pathology and molecular genetics Neuroendocrinology 83 2006 189 199
9. A. Horvath, and C.A. Stratakis Carney complex and lentiginosis Pigment Cell Melanoma Res. 22 2009 580 587
10. L.S. Kirschner, J.A. Carney, and S.D. Pack Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the carney complex Nat. Genet. 26 2000 89 92
11. C. Mateus, A. Palangie, and N. Franck Heterogeneity of skin manifestations in patients with carney complex J. Am. Acad. Dermatol. 59 2008 801 810
12. N.A. Courcoutsakis, N.J. Patronas, and D. Cassarino Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changes J. Clin. Endocrinol. Metab. 89 2004 3737 3738
13. C.A. Stratakis, N. Sarlis, and L.S. Kirschner Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease Ann. Intern. Med. 131 1999 585 591
14. E. Louiset, C.A. Stratakis, and V. Perraudin The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits J. Clin. Endocrinol. Metab. 94 2009 2406 2413
15. S.D. Pack, L.S. Kirschner, and E. Pak Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex) J. Clin. Endocrinol. Metab. 85 2000 3860 3865
16. S.B. Raff, J.A. Carney, and D. Krugman Prolactin secretion abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex) J. Pediatr. Endocrinol. Metab. 13 2000 373 379
17. C.A. Stratakis, N.A. Courcoutsakis, and A. Abati Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex) J. Clin. Endocrinol. Metab. 82 1997 2037 2043
18. A. Premkumar, C.A. Stratakis, and T.H. Shawker Testicular ultrasound in carney complex: report of three cases J. Clin. Ultrasound 25 1997 211 214
19. J.A. Carney Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the cushing syndrome Am. J. Surg. Pathol. 14 1990 206 222
20. C.A. Stratakis, J.A. Carney, and J.P. Lin Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2 J. Clin. Invest. 97 1996 699 705
21. M. Casey, C. Mah, and A.D. Merliss Identification of a novel genetic locus for familial cardiac myxomas and carney complex Circulation 98 1998 2560 2566
22. M. Casey, C.J. Vaughan, and J. He Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and carney complex J. Clin. Invest. 106 2000 R31 R38
23. L.S. Kirschner, F. Sandrini, and J. Monbo Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex Hum. Mol. Genet. 9 2000 3037 3046
24. F.S. Kinderman, C. Kim, and S. von Daake A dynamic mechanism for AKAP binding to RII isoforms of cAMP-dependent protein kinase Mol. Cell 24 2006 397 408
25. K. Tasken, B.S. Skalhegg, and K.A. Tasken Structure, function, and regulation of human cAMP-dependent protein kinases Adv. Second Messenger Phosphoprotein Res. 31 1997 191 204
26. I. Bossis, and C.A. Stratakis Minireview: PRKAR1A: normal and abnormal functions Endocrinology 145 2004 5452 5458
27. L. Groussin, A. Horvath, and E. Jullian A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds J. Clin. Endocrinol. Metab. 91 2006 1943 1949
28. A. Robinson-White, T.R. Hundley, and M. Shiferaw Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2 Hum. Mol. Genet. 12 2003 1475 1484
29. A. Horvath, I. Bossis, and C. Giatzakis Large deletions of the PRKAR1A gene in carney complex Clin. Cancer Res. 14 2008 388 395
30. E.L. Greene, A.D. Horvath, and M. Nesterova In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay Hum. Mutat. 29 2008 633 639
31. E. Meoli, I. Bossis, and L. Cazabat Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors Cancer Res. 68 2008 3133 3141
32. M. Veugelers, D. Wilkes, and K. Burton Comparative PRKAR1A genotype-phenotype analyses in humans with carney complex and prkar1a haploinsufficient mice Proc. Natl. Acad. Sci. U S A 101 2004 14222 14227
33. L. Groussin, L.S. Kirschner, and C. Vincent-Dejean 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: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD Am. J. Hum. Genet. 71 2002 1433 1442
34. A.M. Pereira, F.J. Hes, and A. Horvath Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families J. Clin. Endocrinol. Metab. 2009
35. C.A. Stratakis New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors Mol. Cell Endocrinol. 300 2009 152 157
36. A. Horvath, S. Boikos, and C. Giatzakis A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia Nat. Genet. 38 2006 794 800
37. A. Horvath, C. Giatzakis, and A. Robinson-White Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population Cancer Res. 66 2006 11571 11575
38. S.A. Boikos, A. Horvath, and S. Heyerdahl Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions Horm. Metab. Res. 40 2008 347 353
39. A. Horvath, V. Mericq, and C.A. Stratakis Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia N. Engl. J. Med. 358 2008 750 752
40. L.S. Kirschner, D.F. Kusewitt, and L. Matyakhina A mouse model for the carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues Cancer Res. 65 2005 4506 4514
41. A.J. Robinson-White, W.W. Leitner, and E. Aleem PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes Cancer Res. 66 2006 10603 10612
42. A. Robinson-White, E. Meoli, and S. Stergiopoulos PRKAR1A mutations and protein kinase a interactions with other signaling pathways in the adrenal cortex J. Clin. Endocrinol. Metab. 91 2006 2380 2388
43. K.S. Nadella, and L.S. Kirschner Disruption of protein kinase a regulation causes immortalization and dysregulation of D-type cyclins Cancer Res. 65 2005 10307 10315
44. M. Nesterova, I. Bossis, and F. Wen An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits J. Clin. Endocrinol. Metab. 93 2008 565 571
45. B. Ragazzon, L. Cazabat, and M. Rizk-Rabin Inactivation of the carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells Cancer Res. 69 2009 7278 7284
46. I. Bourdeau, S.R. Antonini, and A. Lacroix Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators Oncogene 23 2004 1575 1585
47. A. Horvath, L. Mathyakina, and Q. Vong Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation J. Clin. Endocrinol. Metab. 91 2006 584 596
48. M. Tadjine, A. Lampron, and L. Ouadi Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD) Clin. Endocrinol. (Oxf) 69 2008 367 373
49. S. Gaujoux, F. Tissier, and L. Groussin Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors J. Clin. Endocrinol. Metab. 93 2008 4135 4140
50. D. Iliopoulos, E.I. Bimpaki, and M. Nesterova MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling Cancer Res. 69 2009 3278 3282
51. M.Q. Almeida, M. Muchow, S. Boikos, A.J. Bauer, K.J. Griffin, K.M. Tsang, C. Cheadle, T. Watkins, F. Wen, M.F. Starost, I. Bossis, M. Nesterova, and C.A. Stratakis 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 2010 1387 1398