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 alon...

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Veröffentlicht in:	American journal of medical genetics 2004-11, Vol.130A (4), p.395-397
Hauptverfasser:	Tsilou, Ekaterini T., Chan, Chi‐Chao, Sandrini, Fabiano, Rubin, Benjamin I., Shen, De Fen, Carney, J. Aidan, Kaiser‐Kupfer, Muriel, Stratakis, Constantine A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Biological and medical sciences Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Cyclic AMP-Dependent Protein Kinases Endocrine System Diseases - genetics Endocrinopathies Eyelid Neoplasms - genetics Eyelid Neoplasms - pathology General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes General aspects. Genetic counseling Humans Loss of Heterozygosity Medical genetics Medical sciences multiple endocrine neoplasia Myxoma - genetics Myxoma - pathology Pigmentation Disorders - genetics Proteins - genetics
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Zusammenfassung:	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.
ISSN:	1552-4825 0148-7299 1552-4833 1096-8628
DOI:	10.1002/ajmg.a.30279