Eyelid myxoma in Carney complex without PRKAR1A allelic loss

Ekaterini T Tsilou; Chi-Chao Chan; Fabiano Sandrini; Benjamin I Rubin; De Fen Shen; J Aidan Carney; Muriel Kaiser-Kupfer; Constantine A Stratakis

doi:10.1002/ajmg.a.30279

Eyelid myxoma in Carney complex without PRKAR1A allelic loss

Am J Med Genet A. 2004 Nov 1;130A(4):395-7. doi: 10.1002/ajmg.a.30279.

Authors

Ekaterini T Tsilou¹, Chi-Chao Chan, Fabiano Sandrini, Benjamin I Rubin, De Fen Shen, J Aidan Carney, Muriel Kaiser-Kupfer, Constantine A Stratakis

Affiliation

¹ 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. [email protected]

PMID: 15368482
DOI: 10.1002/ajmg.a.30279

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.

Published 2004 Wiley-Liss, Inc.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Cyclic AMP-Dependent Protein Kinases
Endocrine System Diseases / genetics
Eyelid Neoplasms / genetics*
Eyelid Neoplasms / pathology
Humans
Loss of Heterozygosity
Myxoma / genetics*
Myxoma / pathology
Pigmentation Disorders / genetics
Proteins / genetics*

Substances

Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PRKAR1A protein, human
Proteins
Cyclic AMP-Dependent Protein Kinases