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Carney complex, type 2(CNC2)

MedGen UID:
340253
Concept ID:
C1854540
Disease or Syndrome
Synonyms: CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2; CNC2
 
OMIM®: 605244

Disease characteristics

Excerpted from the GeneReview: Carney Complex
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Constantine A Stratakis  |  Anelia Horvath   view full author information

Additional description

From GHR
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed. Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing's syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features. Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant). Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.  http://ghr.nlm.nih.gov/condition/carney-complex

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Carney JA, Libé R, Bertherat J, Young WF
Am J Surg Pathol 2014 Sep;38(9):1266-73. doi: 10.1097/PAS.0000000000000220. PMID: 24805858
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA
J Clin Endocrinol Metab 2014 Jan;99(1):E183-8. Epub 2013 Dec 20 doi: 10.1210/jc.2013-3159. [Epub ahead of print] PMID: 24170103Free PMC Article
Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, Stajevic M, Kovacevic G, Stratakis CA
J Stroke Cerebrovasc Dis 2012 Nov;21(8):914.e1-8. Epub 2012 Feb 15 doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. [Epub ahead of print] PMID: 22341669Free PMC Article
Rodriguez FJ, Stratakis CA, Evans DG
Acta Neuropathol 2012 Mar;123(3):349-67. Epub 2011 Dec 31 doi: 10.1007/s00401-011-0935-7. [Epub ahead of print] PMID: 22210082Free PMC Article
Rhee SY, Kwon HS, Lee JH, Woo JT, Kim MK, Lim YJ, Rhee BA, Koh SH, Lee S, Lee MH, Kim DY, Chon S, Oh S, Kim SW, Kim JW, Kim YS, Choi YK
Exp Clin Endocrinol Diabetes 2012 Jan;120(1):7-13. Epub 2011 Oct 21 doi: 10.1055/s-0031-1287790. [Epub ahead of print] PMID: 22020668

Diagnosis

Spaniol A, Mulla BM, Daily JG, Ennen CS
Obstet Gynecol 2014 Aug;124(2 Pt 2 Suppl 1):426-8. doi: 10.1097/AOG.0000000000000340. PMID: 25004313
Ishida N, Shimabukuro K, Matsuno Y, Arakawa Y, Takemura H
Surg Today 2014 Jan;44(1):185-7. Epub 2012 Oct 11 doi: 10.1007/s00595-012-0369-4. [Epub ahead of print] PMID: 23052755
Wilbring M, Wiedemann S, Kappert U, Matschke K
J Thorac Cardiovasc Surg 2013 Oct;146(4):e22-4. Epub 2013 Jul 16 doi: 10.1016/j.jtcvs.2013.05.016. [Epub ahead of print] PMID: 23866852
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. [Epub ahead of print] PMID: 23652670
Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, Stajevic M, Kovacevic G, Stratakis CA
J Stroke Cerebrovasc Dis 2012 Nov;21(8):914.e1-8. Epub 2012 Feb 15 doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. [Epub ahead of print] PMID: 22341669Free PMC Article

Therapy

Carney JA, Libé R, Bertherat J, Young WF
Am J Surg Pathol 2014 Sep;38(9):1266-73. doi: 10.1097/PAS.0000000000000220. PMID: 24805858
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA
J Clin Endocrinol Metab 2014 Jan;99(1):E183-8. Epub 2013 Dec 20 doi: 10.1210/jc.2013-3159. [Epub ahead of print] PMID: 24170103Free PMC Article
Yazdan P, Haghighat Z, Guitart J, Gerami P
Am J Surg Pathol 2013 Jan;37(1):81-8. doi: 10.1097/PAS.0b013e3182608fa5. PMID: 22892599
Gourgari E, Saloustros E, Stratakis CA
Curr Opin Pediatr 2012 Aug;24(4):518-22. doi: 10.1097/MOP.0b013e328355a279. PMID: 22732638Free PMC Article
Kacerovska D, Sima R, Michal M, Hes O, Roucka P, Zarybnicka M, Hora M, Chudacek Z, Kazakov DV
J Am Acad Dermatol 2009 Jul;61(1):80-7. doi: 10.1016/j.jaad.2008.11.015. PMID: 19539840

Prognosis

Carney JA, Libé R, Bertherat J, Young WF
Am J Surg Pathol 2014 Sep;38(9):1266-73. doi: 10.1097/PAS.0000000000000220. PMID: 24805858
Carney JA, Stratakis CA, Young WF Jr
Am J Surg Pathol 2013 Aug;37(8):1140-9. doi: 10.1097/PAS.0b013e318285f6a2. PMID: 23681078Free PMC Article
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. [Epub ahead of print] PMID: 23652670
Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, Stajevic M, Kovacevic G, Stratakis CA
J Stroke Cerebrovasc Dis 2012 Nov;21(8):914.e1-8. Epub 2012 Feb 15 doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. [Epub ahead of print] PMID: 22341669Free PMC Article
Morin E, Mete O, Wasserman JD, Joshua AM, Asa SL, Ezzat S
J Clin Endocrinol Metab 2012 Feb;97(2):E202-6. Epub 2011 Nov 23 doi: 10.1210/jc.2011-2321. [Epub ahead of print] PMID: 22112809

Clinical prediction guides

Zhang M, Manchanda PK, Wu D, Wang Q, Kirschner LS
Mol Endocrinol 2014 Mar;28(3):295-307. Epub 2014 Feb 7 doi: 10.1210/me.2013-1152. [Epub ahead of print] PMID: 24506536Free PMC Article
Cazabat L, Ragazzon B, Varin A, Potier-Cartereau M, Vandier C, Vezzosi D, Risk-Rabin M, Guellich A, Schittl J, Lechêne P, Richter W, Nikolaev VO, Zhang J, Bertherat J, Vandecasteele G
Hum Mol Genet 2014 Mar 1;23(5):1163-74. Epub 2013 Oct 10 doi: 10.1093/hmg/ddt510. [Epub ahead of print] PMID: 24122441Free PMC Article
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. [Epub ahead of print] PMID: 23652670
Yazdan P, Haghighat Z, Guitart J, Gerami P
Am J Surg Pathol 2013 Jan;37(1):81-8. doi: 10.1097/PAS.0b013e3182608fa5. PMID: 22892599
Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA
J Clin Endocrinol Metab 2012 Feb;97(2):351-9. Epub 2011 Nov 23 doi: 10.1210/jc.2011-2244. [Epub ahead of print] PMID: 22112814Free PMC Article

Recent systematic reviews

Saggini A, Brandi ML
Endocr Pract 2011 Jul-Aug;17 Suppl 3:47-57. doi: 10.4158/EP11055.RA. PMID: 21613052

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