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Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.

Authors
  • Akin, Safak1
  • Noyan, Senem2
  • Dagdelen, Selcuk1
  • Pasaoglu, Ilhan3
  • Kaynaroglu, Volkan4
  • Askun, Melike Mut5
  • Bilen, Cenk Yucel6
  • Kiratli, Hayyam7
  • Baydar, Dilek Ertoy8
  • Onder, Sevgen8
  • Sokmensuer, Cenk8
  • Aytemir, Kudret9
  • Erkin, Gul10
  • Kiratli, Pinar Ozgen11
  • Alikasifoglu, Mehmet12
  • Erbas, Tomris1
  • 1 Hacettepe University, Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey. , (Turkey)
  • 2 Damagen, Ankara, Turkey. , (Turkey)
  • 3 Hacettepe University, Faculty of Medicine, Department of Cardiovascular Surgery, Ankara, Turkey. , (Turkey)
  • 4 Hacettepe University, Faculty of Medicine, Department of General Surgery, Ankara, Turkey. , (Turkey)
  • 5 Hacettepe University, Faculty of Medicine, Department of Neurosurgery, Ankara, Turkey. , (Turkey)
  • 6 Hacettepe University, Faculty of Medicine, Department of Urology, Ankara, Turkey. , (Turkey)
  • 7 Hacettepe University, Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey. , (Turkey)
  • 8 Hacettepe University, Faculty of Medicine, Department of Pathology, Ankara, Turkey. , (Turkey)
  • 9 Hacettepe University, Faculty of Medicine, Department of Cardiology, Ankara, Turkey. , (Turkey)
  • 10 Hacettepe University, Faculty of Medicine, Department of Dermatology, Ankara, Turkey. , (Turkey)
  • 11 Hacettepe University, Faculty of Medicine, Department of Nuclear Medicine, Ankara, Turkey. , (Turkey)
  • 12 Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey. , (Turkey)
Type
Published Article
Journal
Neuro endocrinology letters
Publication Date
Aug 05, 2017
Volume
38
Issue
4
Pages
248–254
Identifiers
PMID: 28871709
Source
Medline
License
Unknown

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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