{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:45:27Z","timestamp":1789577127645,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,7,6]],"date-time":"2005-07-06T00:00:00Z","timestamp":1120608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Odontogenic myxomas are rare benign neoplasms affecting the jaw. Myxomas of bones and other sites occur as part of Carney complex (CNC), a multiple neoplasia syndrome caused by mutations in the <jats:italic>PRKAR1A<\/jats:italic> gene, which codes for the regulatory subunit of protein kinase A (PKA). In the present study, 17 odontogenic myxomas from patients without CNC were screened for <jats:italic>PRKAR1A<\/jats:italic> mutations and PRKAR1A protein expression by immunohistochemistry (IHC). Mutations of the coding region of the <jats:italic>PRKAR1A<\/jats:italic> gene were identified in 2 tumors; both these lesions showed no or significantly decreased immunostaining of <jats:italic>PRKAR1A<\/jats:italic> in the tumor compared to that in the surrounding normal tissue. One mutation (c.725C&gt;A) led to a nonconservative amino acid substitution in a highly conserved area of the gene (A213D); the other was a single base\u2010pair deletion that led to a frameshift (del774C) and a stop codon 11 amino acids downstream of the mutation site; both tumors were heterozygous for the respective mutations. Of the remaining tumors, 7 of the 15 without mutations showed almost no PRKAR1A in the tumor cells, whereas IHC showed that the protein was abundant in nontumorous cells. We concluded that <jats:italic>PRKAR1A<\/jats:italic> may be involved by its down\u2010regulation in the pathogenesis of odontogenic myxomas caused by mutations and\/or other genetic mechanisms. Of the sporadic, nonfamilial tumors associated with <jats:italic>PRKAR1A<\/jats:italic> mutations, the odontogenic type was the first myxomatous lesion found to harbor somatic <jats:italic>PRKAR1A<\/jats:italic> sequence changes. Published 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20232","type":"journal-article","created":{"date-parts":[[2005,7,6]],"date-time":"2005-07-06T23:17:44Z","timestamp":1120691864000},"page":"204-211","source":"Crossref","is-referenced-by-count":36,"title":["Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (<i>PRKAR1A<\/i>) in odontogenic myxomas"],"prefix":"10.1002","volume":"44","author":[{"given":"Paola F.","family":"Perdig\u00e3o","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotirios G.","family":"Stergiopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz","family":"De Marco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludmila","family":"Matyakhina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sosipatros A.","family":"Boikos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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