Novel mutation in a patient with Carney complex

Abstract

Carney complex is a rare disease inherited in an autosomal dominant manner. It is mostly caused by inactivating mutations of the subunit of protein kinase A. Carney complex is associated with atrial myxoma, nevi or myxomas of the skin, breast tumors and endocrine overactivity. Primary pigmented nodular adrenocortical disease is the specific endocrine manifestation. The authors present the history of a 53-year-old female patient who had undergone surgery for atrial myxomas, thyroid tumor and breast cancer. She was also operated for an adrenal adenoma causing Cushing's syndrome. Genetic study revealed a mutation in the regulatory subunit of protein kinase A (ivs2-1G>A splice mutation in intron 2). Her heterozygous twins were also genetically screened and one of them carried the same mutation. The authors emphasize that despite the absence of specific treatment for patients with Carney complex, confirmation of the diagnosis by genetic studies is important for the close follow-up of the patient and early identification of novel manifestations.

Síndrome de Carney con mixoma mamario: un tumor muy infrecuente de manejo interdisciplinario

“…Sin embargo, se han estudiado algunos casos que no tiene esta ubicación comprometida, por lo que existiría un segundo locus que podría estar afectado, lo que recibe el nombre de síndrome de Carney tipo II (11). Durante estos dos últimos años, se publicó una nueva mutación en la subunidad reguladora de la proteína quinasa A (IVS2-1G, mutación del empalme en el intrón 2), en una paciente con hijos gemelos, en que uno de ellos es portador de la misma alteración (12,13). En general, el 70% de los casos que tienen síndrome de Carney, son familiares.…”