Molecular and immunohistochemical investigation of protein kinase A regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas

Genes Chromosomes and Cancer

Volumn 44, Issue 2, 2005, Pages 204-211

  Perdigão, Paola F ^a   Stergiopoulos, Sotirios G ^b   De Marco, Luiz ^a   Matyakhina, Ludmila ^b   Boikos, Sosipatros A ^b   Gomez, R S ^a   Pimenta, F J G S ^a   Stratakis, Constantine A ^b  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

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

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; ASPARTIC ACID; CYCLIC AMP DEPENDENT PROTEIN KINASE; PROTEIN KINASE A REGULATORY SUBUNIT 1A; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARNEY COMPLEX; CLINICAL ARTICLE; ENZYME SUBUNIT; FRAMESHIFT MUTATION; GENE; GENE CONTROL; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MULTIPLE ENDOCRINE NEOPLASIA; MYXOMA; NUCLEOTIDE SEQUENCE; ODONTOGENIC TUMOR; PRIORITY JOURNAL; PRKAR1A GENE; PROTEIN EXPRESSION; SOMATIC MUTATION; STOP CODON;

CYCLIC AMP-DEPENDENT PROTEIN KINASES; DNA, NEOPLASM; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; MYXOMA; ODONTOGENIC TUMORS; PROTEINS;

EID: 24944522561     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.20232     Document Type: Article

References (33)

1. Acebo E, Val-Bernal JF, Gomez-Roman JJ, Revuelta JM. 2003. Clinicopathologic study and DNA analysis of 37 cardiac myxomas: a 28-year experience. Chest 123:1379-1385.
2. Amano J, Kono T, Wada Y, Zhang T, Koide N, Fujimori M, Ito K. 2003. Cardiac myxoma: its origin and tumor characteristics. Ann Thorac Cardiovasc Surg 9:215-221.
3. Amieux PS, McKnight GS. 2002. The essential role of R1 alpha in the maintenance of regulated PKA activity. Ann NY Acad Sci 968:75-95.
4. Barcellos-Hoff MH, Medina D. 2005 New highlights on stroma-epithelial interactions in breast cancer. Breast Cancer Res 7:33-36.
5. Bast BT, Pogrel MA, Regezi JA. 2003. The expression of apoptotic proteins and matrix metalloproteinases in odontogenic myxomas. J Oral Maxillofac Surg 61:1463-1466.
6. 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.
7. Bhowmick NA, Moses HL. 2005 Tumor-stroma interactions. Curr Opin Genet Dev 15:97-101.
8. Boom R, Sol CJ, Salimans MM, Jansen CL, Wertheim-van Dillen PM, van der Noordaa J. 1990. Rapid and simple method for purification of nucleic acids. J Clin Microbiol 28:495-503.
9. Boson WL, Gomez RS, Araujo L, Kalapothakis E, Friedman E, De Marco L. 1998. Odontogenic myxomas are not associated with activating mutations of the Gs alpha gene. Anticancer Res 18: 4415-4417.
10. Bossis I, Stratakis CA. 2004. PRKAR1A: normal and abnormal functions. Endocrinology 145:5452-5458.
11. Carney JA, Hruska LS, Beauchamp GD, Gordon H. 1986. Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc 61:165-172.
12. Curran AE, Damm DD, Drummond JF. 2002. Pathologically significant pericoronal lesions in adults: histopathologic evaluation. J Oral Maxillofac Surg 60:613-618.
13. DeMarco L, Stratakis CA, Boson WL, Jakbovitz O, Carson E, Andrade LM, Amaral VF, Rocha JL, Chrousos GP, Nordenskjold M, Friedman E. 1996. Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene. Hum Genet 98:185-188.
14. Dijkhuizen T, de Jong B, Meuzelaar JJ, Molenaar WM, van den Berg E. 2001. No cytogenetic evidence for involvement of gene(s) at 2p16 in sporadic cardiac myxomas: cytogenetic changes in ten sporadic cardiac myxomas. Cancer Genet Cytogenet 126:162-165.
15. Farmakidis C, Sandrini F, Kirschner LS, Stratakis CA. 2001. The search for somatic mutations in the tumor suppressor gene coding for the R1a regulatory subunit of the cAMP-dependent protein kinase A in sporadic cardiac myxomas. National Institutes of Health Research Festival.
16. Fogt F, Zimmerman RL, Hartmann CJ, Brown CA, Narula N. 2002. Genetic alterations of Carney complex are not present in sporadic cardiac myxomas. Int J Mol Med 9:59-60.
17. Hendler BH, Abaza NA, Quinn P. 1979. Odontogenic myxoma. Surgical management and an ultrastructural study. Oral Surg Oral Med Oral Pathol. 47:203-217.
18. Hisatomi M, Asaumi J, Konouchi H, Yanagi Y, Matsuzaki H, Kishi K. 2003. Comparison of radiographic and MRI features of a root-diverging odontogenic myxoma, with discussion of the differential diagnosis of lesions likely to move roots. Oral Dis 9:152-157.
19. Jia J, Tong C, Wang B, Luo L, Jiang J. 2004. Hedgehog signalling activity of Smoothened requires phosphorylation by protein kinase A and casein kinase I. Nature 432:1045-1050.
20. Kaffe I, Naor H, Buchner A. 1997. Clinical and radiological features of odontogenic myxoma of the jaws. Dentomaxillofac Radiol 26: 299-303.
21. Kim C, Xuong NH, Taylor SS. 2005. Crystal structure of a complex between the catalytic and regulatory (RIalpha) subunits of PKA. Science 307:690-696.
22. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. 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.
23. Kirschner LS, Sandrini F, Monbo J, Carney JA, Stratakis CA. 2000b. Genetic heterogeneity and spectrum of mutation of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 9:3037-3046.
24. Lombardi T, Samson J, Bernard JP, Di Felice R, Fiore-Donno G, Muhlhauser J, Maggiano N. 1992. Comparative immunohistochemical analysis between jaw myxoma and mesenchymal cells of tooth germ. Pathol Res Pract 188:141-144.
25. Okamoco S, Hisaoka M, Meis-Kindblom JM, Kindblom LG, Hashimoto H. 2002. Juxta-articular myxoma and intramuscular myxoma are two distinct entities. Activating Gs alpha mutation at Arg 201 codon does not occur in juxta-articular myxoma. Virchows Arch 440:12-15.
26. Quintal MC, Tabet JC, Oligny L, Russo P. 1994. Oral soft tissue myxoma: report of a case and review of the literature. J Otolaryngol 23:42-45.
27. Sandrini F, Matyakhina L, Sarlis NJ, Kirschner LS, Farmakidis C, Gimm O, Stratakis CA. 2002a. Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. Genes Chromosomes Cancer. 35:182-192.
28. Sandrini F, Kirschner LS, Bei T, Farmakidis C, Yasufuku-Takano J, Takano K, Prezant TR, Marx SJ, Farrell WE, Clayton RN, Groussin L, Bertherat J, Stratakis CA. 2002b. PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. J Med Genet 39: e78.
29. Sandrini F, Stratakis C. 2003. Clinical and molecular genetics of Carney complex. Mol Genet Metab 78:83-92.
30. Stratakis CA. 2002. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex). Ann NY Acad Sci 968:3-21.
31. Stratakis CA, Kirschner LS, Carney JA. 2001. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86: 4041-4046.
32. Tsilou ET, Chan CC, Sandrini F, Rubin BI, Shen de F, Carney JA, Kaiser-Kupfer M, Stratakis CA. 2004. Eyelid myxoma in Carney complex without PRKAR1A allelic loss. Am J Med Genet 130A: 395-397.
33. Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT. 2004. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci USA 101: 14222-14227.