Key result
Eyelid myxoma in a Carney complex patient with a heterozygous PRKAR1A mutation developed without loss of heterozygosity, indicating haploinsufficiency alone drives tumorigenesis.
In Carney complex, eyelid myxomas can develop through haploinsufficiency of PRKAR1A without requiring loss of heterozygosity.
Eyelid myxomas may prompt Carney complex evaluation; extends haploinsufficiency model but leaves open broader applicability.
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.
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Tsilou et al. (2004) studied this question. Eyelid myxoma in a Carney complex patient with a heterozygous PRKAR1A mutation developed without loss of heterozygosity, indicating haploinsufficiency alone drives tumorigenesis.
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