carney complex

The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva and oral mucosa. Cardiac myxomas may lead to embolic strokes and heart failure and may present with fever, joint pain, shortness of breath, diastolic rumble and tumor plop. Myxomas may also occur outside the heart, usually in the skin and breast. Endocrine tumors may manifest as disorders such as Cushing syndrome. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD).{{cite journal |url= https://www.ncbi.nlm.nih.gov/books/NBK507877/ | title= Carney Complex

|website= National Center for Biotechnology Information, U.S. National Library of Medicine | year= 2022

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| access-date= 5 July 2021| last1= Vindhyal

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The LAMB acronym refers to lentigines, atrial myxomas, and blue nevi. NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides.

Testicular cancer, particularly Sertoli cell type, is associated with Carney syndrome.Campbell Walsh urology, 10th edition, page 1693 Thyroid and pancreas cancer may also occur.{{Cite journal |vauthors=Gaujoux S, Tissier F, Ragazzon B, Rebours V, Saloustros E, Perlemoine K, Vincent-Dejean C, Meurette G, Cassagnau E, Dousset B, Bertagna X, Horvath A, Terris B, Carney JA, Stratakis CA, Bertherat J | title = Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. | journal = J Clin Endocrinol Metab | volume = 96 | issue = 11 | pages = E1888–95 | year = 2011 | pmid = 21900385 | doi=10.1210/jc.2011-1433 | pmc=3205895}}{{Cite journal |vauthors=Bano G, Hodgson S | title = Diagnosis and Management of Hereditary Thyroid Cancer. | journal = Recent Results Cancer Res | series = Recent Results in Cancer Research | volume = 205 | pages = 29–44 | year = 2016 | pmid = 27075347 | doi=10.1007/978-3-319-29998-3_3| isbn = 978-3-319-29996-9 }}

Although J Aidan Carney also described Carney's triad it is entirely different.{{cite journal |author=Gaissmaier C |title=Carney complex |format=letter and response |journal=Circulation |volume=100 |issue=25 |pages=e150 |date=December 1999 |pmid=10604916|url=http://circ.ahajournals.org/cgi/reprint/100/25/e150 |doi=10.1161/01.cir.100.25.e150|doi-access=free |url-access=subscription }}

Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17 (17q23-q24){{OMIM|160980|Carney Complex, type 1; CNC1}}

which may function as a tumor-suppressor gene. The encoded protein is a type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of people with Carney complex.{{cite web |url= https://www.lecturio.com/concepts/cardiac-myxoma/ | title= Cardiac Myxoma | website= The Lecturio Medical Concept Library |access-date= 6 July 2021}}

Less commonly, the molecular pathogenesis of Carney complex is a variety of genetic changes at chromosome 2 (2p16).{{Cite journal | last1 = Stratakis | first1 = C. A. | last2 = Kirschner | first2 = L. S. | last3 = Carney | first3 = J. A. | title = Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation | journal = Journal of Clinical Endocrinology & Metabolism | volume = 86 | issue = 9 | pages = 4041–4046 | year = 2001 | doi = 10.1210/jc.86.9.4041| pmid = 11549623 | doi-access = free }}{{OMIM|605244|Carney Complex, type 2; CNC2}}

Both types of Carney complex are autosomal dominant. Despite dissimilar genetics, there appears to be no phenotypic difference between PRKAR1A and chromosome 2p16 mutations.

Cardiac myxomas can be difficult to manage surgically because of recurrence within the heart, often far away from the site of the initial tumor.

In 1914 an American neurosurgeon, Harvey Cushing, reported on a patient with a pituitary tumour on whom he had operated. The post mortem findings as reported were consistent with Carney complex, though at the time this condition had yet to be described. In 2017 archived tissue from the operation in Cushing's report was subjected to DNA sequencing, revealing an Arg74His (arginine to histidine: guanine (G)-> adenosine (A) transition in the second codon position of the 74th codon in the protein) mutation in the PRKAR1A gene, confirming a diagnosis of Carney complex. Therefore, Cushing's paper appears to be the first report of this complex.{{cite journal | last=Tsay | first=Cynthia J | last2=Stratakis | first2=Constantine A | last3=Faucz | first3=Fabio Rueda | last4=London | first4=Edra | last5=Stathopoulou | first5=Chaido | last6=Allgauer | first6=Michael | last7=Quezado | first7=Martha | last8=Dagradi | first8=Terry | last9=Spencer | first9=Dennis D | last10=Lodish | first10=Maya | title=Harvey Cushing Treated the First Known Patient With Carney Complex | journal=Journal of the Endocrine Society | publisher=The Endocrine Society | volume=1 | issue=10 | date=2017-09-28 | issn=2472-1972 | doi=10.1210/js.2017-00283 | pages=1312–1321}}

• Epithelioid blue nevus
• List of cutaneous neoplasms associated with systemic syndromes

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| OMIM = 160980

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=carney GeneReview/UW/NIH entry on Carney complex]

{{Deficiencies of intracellular signaling peptides and proteins}}

{{DEFAULTSORT:Carney Complex}}

Category:Hereditary cancers

Category:Cardiology

Category:Melanocytic nevi and neoplasms

Category:Syndromes affecting the skin

Category:Syndromes affecting the heart

Category:Syndromes with tumors