title: Eyelid myxoma in Carney complex without PRKAR1A allelic loss.
abstract: Eyelid nodules were investigated in a patient with Carney complex who was heterozygous for the most commonly known PRKAR1A-inactivating mutation, c.578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion.
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA. tsiloue@nei.nih.gov
authors.forename: Ekaterini T
authors.initials: ET
authors.lastname: Tsilou
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
authors.forename: Fabiano
authors.initials: F
authors.lastname: Sandrini
authors.forename: Benjamin I
authors.initials: BI
authors.lastname: Rubin
authors.forename: De Fen
authors.initials: DF
authors.lastname: Shen
authors.forename: J Aidan
authors.initials: JA
authors.lastname: Carney
authors.forename: Muriel
authors.initials: M
authors.lastname: Kaiser-Kupfer
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000015:Abnormalities, Multiple; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases; D004700:Endocrine System Diseases / Q000235:genetics; D005142:Eyelid Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D019656:Loss of Heterozygosity; D009232:Myxoma / Q000235:genetics* / Q000473:pathology; D010859:Pigmentation Disorders / Q000235:genetics; D011506:Proteins / Q000235:genetics*
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D011506:Proteins; D017868:Cyclic AMP-Dependent Protein Kinases