Pathology and Molecular Genetics of the Pituitary Gland in Patients with the 'Complex of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity and Schwannomas� (Carney Complex)

2004 ◽  
pp. 253-264 ◽  
Author(s):  
C.A. Stratakis ◽  
L. Matyakhina ◽  
N. Courkoutsakis ◽  
N. Patronas ◽  
A. Voutetakis ◽  
...  
Keyword(s):  
Pituitary Gland ◽  
Molecular Genetics ◽  
Skin Pigmentation ◽  
Carney Complex

scholarly journals Primary pigmented nodular adrenocortical disease and Cushing's syndrome

2007 ◽  
Vol 51 (8) ◽  
pp. 1238-1244 ◽  
Author(s):  
Anelia Horvath ◽  
Constantine Stratakis
Keyword(s):  
Molecular Genetics ◽  
Cushing’S Syndrome ◽  
Adrenal Glands ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Camp Signaling ◽  
Camp Signaling Pathway ◽  
Molecular Studies ◽  
Adrenocortical Hyperplasia

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing's syndrome is the most common endocrine manifestation (3). Molecular studies have led to the identification of several genes, defects in which may predispose PPNAD formation; all of these molecules play important role for the cAMP signaling pathway. This review intends to present the most recent knowledge of the pathology and molecular genetics of the benign bilateral adrenocortical lesions, as well as to discuss the modern tools for diagnostics and treatment of this condition.

Carney Complex: Pathology and Molecular Genetics

2006 ◽  
Vol 83 (3-4) ◽  
pp. 189-199 ◽  
Author(s):  
Sosipatros A. Boikos ◽  
Constantine A. Stratakis
Keyword(s):  
Molecular Genetics ◽  
Carney Complex

Clinical and molecular genetics of Carney complex

2003 ◽  
Vol 78 (2) ◽  
pp. 83-92 ◽  
Author(s):  
Fabiano Sandrini ◽  
Constantine Stratakis
Keyword(s):  
Molecular Genetics ◽  
Carney Complex

Protein kinase A and its role in human neoplasia: the Carney complex paradigm.

2004 ◽  
Vol 11 (2) ◽  
pp. 265-280 ◽  
Author(s):  
I Bossis ◽  
A Voutetakis ◽  
T Bei ◽  
F Sandrini ◽  
K J Griffin ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Protein Kinase A ◽  
Cushing Syndrome ◽  
Skin Pigmentation ◽  
Suppressor Gene ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Extensive Literature ◽  
Bilateral Adrenal Hyperplasia ◽  
Kinase A

The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the serine-threonine kinase activity catalyzed by the PKA holoenzyme. Carney complex (CNC) describes the association 'of spotty skin pigmentation, myxomas, and endocrine overactivity'; CNC is in essence the latest form of multiple endocrine neoplasia to be described and affects the pituitary, thyroid, adrenal and gonadal glands. Primary pigmented nodular adrenocortical disease (PPNAD), a micronodular form of bilateral adrenal hyperplasia that causes a unique, inherited form of Cushing syndrome, is also the most common endocrine manifestation of CNC. CNC and PPNAD are genetically heterogeneous but one of the responsible genes is PRKAR1A, at least for those families that map to 17q22-24 (the chromosomal region that harbors PRKAR1A). CNC and/or PPNAD are the first human diseases to be caused by mutations in one of the subunits of the PKA holoenzyme. Despite the extensive literature on R1alpha and PKA, little is known about their potential involvement in cell cycle regulation, growth and/or proliferation. The presence of inactivating germline mutations and the loss of its wild-type allele in CNC lesions indicated that PRKAR1A could function as a tumor-suppressor gene in these tissues. However, there are conflicting data in the literature about PRKAR1A's role in human neoplasms, cancer cell lines and animal models. In this report, we review briefly the genetics of CNC and focus on the involvement of PRKAR1A in human tumorigenesis in an effort to reconcile the often diametrically opposite reports on R1alpha.

Newborn infant with congenital lentigines as a manifestation of Carney Complex

2021 ◽  
Vol 14 (1) ◽  
pp. e239259
Author(s):  
Amarpal Singh Bilkhu ◽  
Raju Sunderesan
Keyword(s):  
Newborn Infant ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Differential Diagnoses ◽  
Rare Syndrome ◽  
Multiple Lentigines

Carney Complex (CNC) is a rare syndrome characterised by skin pigmentation, endocrine over activity and myxomas, with the median age of detection being 20 years. We present a case of CNC diagnosed in infancy after being noted to have multiple lentigines over his face, abdomen, back and thighs at birth. We consider the differential diagnoses of similar cutaneous presentations in the well neonate and review the prognosis and suggested surveillance of patients with CNC.

scholarly journals 500 Multiple cardiac myxomas on both mitral valve leaflets and left ventricular outflow tract: carney complex in a greek family

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
A Siskos ◽  
P Giannakopoulou ◽  
N Gouliaros ◽  
P Poulios ◽  
I Zarifis
Keyword(s):  
Mitral Valve ◽  
Brain Mri ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Left Ventricular ◽  
Outflow Tract ◽  
Left Middle Cerebral Artery ◽  
Endocrine Tumors ◽  
Palpable Mass ◽  
Cardiac Masses

Abstract Funding Acknowledgements None to declare. A 49 year old woman was admitted to our institution due to syncope. Her medical history was unremarkable, but her family history included a cerebral infract suffered by her daughter and attributed to a left atrial myxoma. Her physical examination revealed spotty skin pigmentation on her face, lips and neck; a palpable mass in her right breast; and a nodule on her right nipple. During her hospitalisation she developed aphasia and hemiparesis. Brain MRI revealed multiple acute ischemic infracts of her left middle cerebral artery. Bedside transthoracic echocardiography revealed three cardiac masses: one located at the left ventricle outflow tract, the aortic valve; and two on both mitral valve leaflets. The above findings were confirmed with transoesophageal echocardiography. She undewent biopsy of the breast mass, and surgical excision of the nipple nodule and the cardiac masses. Histology revealed myxoma in all sites. The patient recovered without complications, aside of minor neurologic deficits. 1,5 year follow-up of the patient and her daughter showed no reccurence of cardiac masses. DNA sequencing of both mother and daughter was positive for PRKAR1A mutation, confirming the diagnosis of Carney complex, a very rare multiple neoplasia syndrome. In addition to the cutaneous and cardiac findings, Carney complex is also associated with endocrine tumors, which neither patient had. The coexistence of myxomas, skin hyperpigmentaion (Lentiginosis) and endocrine abnormalities should always be a reminder of this entity, in order to prevent tumors from causing strokes and death. Abstract 500 Figure.

scholarly journals Carney Complex

2014 ◽  
Vol 6 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Surendra Kumar Agarwal ◽  
Shantanu Pande ◽  
Bipin Chandra
Keyword(s):  
Skin Pigmentation ◽  
Cardiac Myxoma ◽  
Large Cell ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Surgical Removal ◽  
Endocrine Gland ◽  
Autosomal Dominant Disorder ◽  
Complete Evaluation ◽  
Cardiac Neoplasms

ABSTRACT The complex of myxomas, spotty skin pigmentation, and endocrine over activity or Carney complex (CNC) (MIM no. 160980) is an autosomal dominant disorder that was described in 1985 by Carney. The diagnosis of CNC is made if two of the main manifestations of the syndrome are present, these need to be confirmed by histology, biochemical testing, or imaging. Alternatively, the diagnosis is made when one of the criteria is present and the patient is a carrier of a known inactivating mutation of the PRKAR1A gene. Most cases of CNC are caused by inactivating mutations in the gene encoding one of the subunits of the protein kinase A (PKA) tetrameric enzyme, namely regulatory subunit type1 alpha (PRKAR1A), located at 17q22-24. Endocrine, dermatologic, and cardiac anomalies are the main manifestations of CNC. Skin abnormalities are present in almost 77% of the CNC patients. Variety of endocrine gland tumors are observed in CNC patients, namely growth hormone secreting pituitary adenoma (acromegaly), thyroid adenomas or carcinomas, testicular tumors (large cell calcifying sertoli cell tumors), and ovarian cyst. Cardiac myxoma is the most common primary tumor affecting the heart, accounting for nearly half of cardiac neoplasms. Approximately, 30-60% of CNC patients will develop cardiac myxoma, usually at much younger ages than the sporadic tumors. A high degree of suspicion, complete evaluation, genetic counseling is important aspect of management of Carney's disease. Once confirmed, surgical removal remains the mainstay of treatment. How to cite this article Majumdar G, Agarwal SK, Pande S, Chandra B. Carney Complex. World J Endoc Surg 2014;6(1):1-6.

Syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex): breast imaging findings.

Radiology ◽  
1997 ◽  
Vol 205 (1) ◽  
pp. 221-227 ◽  
Author(s):  
N A Courcoutsakis ◽  
C K Chow ◽  
T H Shawker ◽  
J A Carney ◽  
C A Stratakis
Keyword(s):  
Breast Imaging ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Imaging Findings
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