Eyelid myxoma in Carney complex without PRKAR1A allelic loss.
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.
Tsilou
Ekaterini T
ET
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
Chan
Chi-Chao
CC
Sandrini
Fabiano
F
Rubin
Benjamin I
BI
Shen
De Fen
DF
Carney
J Aidan
JA
Kaiser-Kupfer
Muriel
M
Stratakis
Constantine A
CA
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*
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D011506:Proteins; D017868:Cyclic AMP-Dependent Protein Kinases