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  • Title: Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.
    Author: Akin S, Noyan S, Dagdelen S, Pasaoglu I, Kaynaroglu V, Askun MM, Bilen CY, Kiratli H, Baydar DE, Onder S, Sokmensuer C, Aytemir K, Erkin G, Kiratli PO, Alikasifoglu M, Erbas T.
    Journal: Neuro Endocrinol Lett; 2017 Aug; 38(4):248-254. PubMed ID: 28871709.
    Abstract:
    Carney Complex (CNC) is a multiple neoplasia syndrome characterized by skin tumors and pigmented lesions, myxomas, and various endocrine tumors. The aim of this case report was to describe a case of CNC with a novel PRKAR1A mutation. A man aged 46 years with a medical history of surgery for cardiac myxomas at the age of 39 was admitted to our hospital because of four newly-developed heart masses. The histologic examination confirmed cardiac myxomas. He had many presentations of CNC such as growth hormone (GH) and prolactin (PRL)-secreting mixed pituitary adenoma, benign thyroid nodule, large-cell calcifying Sertoli cell tumor (LCCST), and superficial angiomyxoma. A bilateral adrenalectomy was performed because the laboratory findings suggested primary pigmented nodular adrenocortical disease (PPNAD). The pathologic examination revealed a focal unilateral PPNAD, unilateral nonpigmented adrenocortical nodule, and bilateral adrenal medullary hyperplasia. Two years after the second cardiac operation, an interatrial septum-derived tumor was detected. An atrial myxoma was confirmed with histologic studies. Based on these findings, the patient was confirmed to have CNC. A novel insertion mutation in the type 1A regulatory subunit of the cAMP-dependent protein kinase A gene (PRKAR1A) in exon 2 was detected in our patient through genetic analysis. The presence of multiple myxomas and endocrine abnormalities should be an indication to physicians to further investigate for CNC. Herein, we described a case of CNC with a novel mutation in exon 2 of the PRKAR1A gene with typical and atypical clinical features.
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