PRKACA: The catalytic subunit of protein kinase A and adrenocortical tumors

Frontiers in Cell and Developmental Biology

Volumn 3, Issue MAY, 2015, Pages

  Berthon, Annabel S ^a   Szarek, Eva ^a   Stratakis, Constantine A ^a  

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

Author keywords

Adenoma; Adrenal cortex; Cushing syndrome; PKA; PRKACA

Indexed keywords

EID: 84949229179     PISSN: None     EISSN: 2296634X     Source Type: Journal    
DOI: 10.3389/fcell.2015.00026     Document Type: Short Survey

References (43)

1. Almeida, M. Q., and Stratakis, C. A. (2010). Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Pract. Res. Clin. Endocrinol. Metab. 24, 907-914. doi: 10.1016/j.beem.2010.10.006
2. Almeida, M. Q., and Stratakis, C. A. (2011). How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues? Mol. Cell. Endocrinol. 336, 162-168. doi: 10.1016/j.mce.2010.11.018
3. Arnaldi, G., Mancini, T., Tirabassi, G., Trementino, L., and Boscaro, M. (2012). Advances in the epidemiology, pathogenesis, and management of Cushing's syndrome complications. J. Endocrinol. Invest. 35, 434-448. doi: 10.1007/BF03345431
4. Bertagna, X., Guignat, L., Groussin, L., and Bertherat, J. (2009). Cushing's disease. Best pract. Res. Clin. Endocrinol. Metab. 23, 607-623. doi: 10.1016/j.beem.2009.06.001
5. Bertherat, J., Groussin, L., Sandrini, F., Matyakhina, L., Bei, T., Stergiopoulos, S., 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
6. Berthon, A., Sahut-Barnola, I., Lambert-Langlais, S., De Joussineau, C., Damon-Soubeyrand, C., Louiset, E., et al. (2010). Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development. Hum. Mol. Genet. 19, 1561-1576. doi: 10.1093/hmg/ddq029
7. Beuschlein, F., Fassnacht, M., Assie, G., Calebiro, D., Stratakis, C. A., Osswald, A., et al. (2014). Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N. Engl. J. Med. 370, 1019-1028. doi: 10.1056/NEJMoa1310359
8. Bimpaki, E. I., Nesterova, M., and Stratakis, C. A. (2009). Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. Eur. J. Endocrinol. 161, 153-161. doi: 10.1530/EJE-09-0027
9. Blake, M. A., Holalkere, N. S., and Boland, G. W. (2008). Imaging techniques for adrenal lesion characterization. Radiol. Clin. North Am. 46, 65-78, vi. doi: 10.1016/j.rcl.2008.01.003
10. Bossis, I., and Stratakis, C. A. (2004). Minireview: PRKAR1A: normal and abnormal functions. Endocrinology 145, 5452-5458. doi: 10.1210/en.2004-0900
11. Cao, Y., He, M., Gao, Z., Peng, Y., Li, Y., Li, L., et al. (2014). Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science 344, 913-917. doi: 10.1126/science.1249480
12. Caretta, A., and Mucignat-Caretta, C. (2011). Protein kinase a in cancer. Cancers 3, 913-926. doi: 10.3390/cancers3010913
13. Carney, J. A., Lyssikatos, C., Lodish, M. B., and Stratakis, C. A. (2015). Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes. Hum. Pathol. 46, 40-49. doi: 10.1016/j.humpath.2014.09.005
14. Christenson, L. K., Johnson, P. F., Mcallister, J. M., and Strauss, J. F. III. (1999). CCAAT/enhancer-binding proteins regulate expression of the human steroidogenic acute regulatory protein (StAR) gene. J. Biol. Chem. 274, 26591-26598. doi: 10.1074/jbc.274.37.26591
15. Di Dalmazi, G., Berr, C. M., Fassnacht, M., Beuschlein, F., and Reincke, M. (2014a). Adrenal function after adrenalectomy for subclinical hypercortisolism and Cushing's syndrome: a systematic review of the literature. J. Clin. Endocrinol. Metab. 99, 2637-2645. doi: 10.1210/jc.2014-1401
16. Di Dalmazi, G., Kisker, C., Calebiro, D., Mannelli, M., Canu, L., Arnaldi, G., et al. (2014b). Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study. J. Clin. Endocrinol. Metab. 99, E2093-E2100. doi: 10.1210/jc.2014-2152
17. Duan, K., Gomez Hernandez, K., and Mete, O. (2014). Clinicopathological correlates of adrenal Cushing's syndrome. J. Clin. Pathol. 68, 175-186. doi: 10.1136/jclinpath-2014-202612
18. Forlino, A., Vetro, A., Garavelli, L., Ciccone, R., London, E., Stratakis, C. A., et al. (2014). PRKACB and Carney complex. N. Engl. J. Med. 370, 1065-1067. doi: 10.1056/NEJMc1309730
19. Goh, G., Scholl, U. I., Healy, J. M., Choi, M., Prasad, M. L., Nelson-Williams, C., et al. (2014). Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat. Genet. 46, 613-617. doi: 10.1038/ng.2956
20. Groussin, L., Jullian, E., Perlemoine, K., Louvel, A., Leheup, B., Luton, J. P., 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. doi: 10.1210/jc.2002-020592
21. Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., et al. (2000a). Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat. Genet. 26, 89-92. doi: 10.1038/79238
22. Kirschner, L. S., Sandrini, F., Monbo, J., Lin, J. P., Carney, J. A., and Stratakis, C. A. (2000b). Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum. Mol. Genet. 9, 3037-3046. doi: 10.1093/hmg/9.20.3037
23. Kubota, Y., Mitsukawa, N., Uchida, M., Uchida, Y., Akita, S., Hasegawa, M., et al. (2014). Low-level mesodermal somatic mutation mosaicism: late-onset craniofacial and cervical spinal hyperostoses. Am. J. Med. Genet. A 164A, 741-747. doi: 10.1002/ajmg.a.36310
24. Lacroix, A. (2009). ACTH-independent macronodular adrenal hyperplasia. Best Pract. Res. Clin. Endocrinol. Metab. 23, 245-259. doi: 10.1016/j.beem.2008.10.011
25. Lacroix, A. (2013). Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia. N. Engl. J. Med. 369, 2147-2149. doi: 10.1056/NEJMe1312792
26. Lochner, A., and Moolman, J. A. (2006). The many faces of H89: a review. Cardiovasc. Drug Rev. 24, 261-274. doi: 10.1111/j.1527-3466.2006.00261.x
27. Lodish, M. B., Yuan, B., Levy, I., Braunstein, G. D., Lyssikatos, C., Salpea, P., et al. (2015). Germline PRKACA amplification cases variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur. J. Endocrinol. 172, 803-811. doi: 10.1530/EJE-14-1154
28. Louiset, E., Duparc, C., Young, J., Renouf, S., Tetsi Nomigni, M., Boutelet, I., et al. (2013). Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N. Engl. J. Med. 369, 2115-2125. doi: 10.1056/NEJMoa1215245
29. Manna, P. R., Dyson, M. T., and Stocco, D. M. (2009). Regulation of the steroidogenic acute regulatory protein gene expression: present and future perspectives. Mol. Hum. Reprod. 15, 321-333. doi: 10.1093/molehr/gap025
30. Mcnicol, A. M. (2013). Diagnostic and molecular aspects of adrenal cortical tumors. Semin. Diagn. Pathol. 30, 197-206. doi: 10.1053/j.semdp.2013.07.001
31. Murray, A. J. (2008). Pharmacological PKA inhibition: all may not be what it seems. Science signaling 1:re4. doi: 10.1126/scisignal.122re4
32. Nakajima, Y., Okamura, T., Gohko, T., Satoh, T., Hashimoto, K., Shibusawa, N., et al. (2014). Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication]. Endocr. J. 61, 825-832. doi: 10.1507/endocrj.EJ14-0282
33. Newell-Price, J., Bertagna, X., Grossman, A. B., and Nieman, L. K. (2006). Cushing's syndrome. Lancet 367, 1605-1617. doi: 10.1016/S0140-6736(06)68699-6
34. Plotz, C. M., Knowlton, A. I., and Ragan, C. (1952). The natural history of Cushing's syndrome. Am. J. Med. 13, 597-614. doi: 10.1016/0002-9343(52)90027-2
35. Sahut-Barnola, I., De Joussineau, C., Val, P., Lambert-Langlais, S., Damon, C., Lefrancois-Martinez, A. M., et al. (2010). Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice. PLoS Genet. 6:e1000980. doi: 10.1371/journal.pgen.1000980
36. Sato, Y., Maekawa, S., Ishii, R., Sanada, M., Morikawa, T., Shiraishi, Y., et al. (2014). Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. Science 344, 917-920. doi: 10.1126/science.1252328
37. Sapio, L., Di Michela, F., Illiano, M., Esposito, A., Chiosi, E., Spina, A., et al. (2014). Targeting protein kinase A in cancer therapy: update. EXCLI J. 13, 843-855
38. Stratakis, C. A., and Boikos, S. A. (2007). Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias. Nat. Clin. Pract. Endocrinol.Metab. 3, 748-757. doi: 10.1038/ncpendmet0648
39. Stratakis, C. A. (2008). Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome). Endocr. Dev. 13, 117-132. doi: 10.1159/000134829
40. Stratakis, C. A. (2014a). E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors. J. Clin. Endocrinol. Metab. 99, 3629-3633. doi: 10.1210/jc.2014-3295
41. Stratakis, C. A. (2014b). Adrenal cancer in 2013: time to individualize treatment for adrenocortical cancer? Nat. Rev. Endocrinol. 10, 76-78. doi: 10.1038/nrendo.2013.263
42. Wajchenberg, B. L., Albergaria Pereira, M. A., Medonca, B. B., Latronico, A. C., Campos Carneiro, P., Alves, V. A., et al. (2000). Adrenocortical carcinoma: clinical and laboratory observations. Cancer 88, 711-736
43. Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E., and Spiegel, A. M. (1991). Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N. Engl. J. Med. 325, 1688-1695. doi: 10.1056/NEJM199112123252403