Carney complex


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Car·ney com·plex

(kahr'nē),
an autosomal dominant multiple endocrine neoplasia syndrome characterized by dermatologic and mucosal lentiginosis, atrial myxomas of the heart, primary Cushing syndrome, and acromegaly. A subgroup of patients have abnormalities of an adenylyl cyclase A subunit.
Synonym(s): Carney syndrome
[J.A. Carney, 20th-century U.S. physician]

Carney syndrome

An autosomal dominant multiple neoplasia and lentiginosis syndrome, first described as the association of:
(1) primary pigmented nodular adrenocortical disease (PPNAD), a pituitary-independent, primary form of hyperadrenocortisolism;
(2) lentigines, freckles, and blue nevi of skin and mucosae; and
(3) nonendocrine and endocrine tumours, including myxomas of skin, heart, breast, and other sites; tumours of thyroid, ductal adenoma of breast; psammomatous melanotic schwannoma; growth hormone-producing pituitary adenoma; testicular Sertoli-cell tumour; and acromegaly due to somatomammotroph hyperplasia and growth hormone-releasing, hormone-independent adenoma.

Molecular pathology
Most cases (70%) of Carney syndrome are due to an inactivating mutation in PRKAR1A on chromosome 17q23-q24, which is thought to encode a tumour-suppressor gene.

Carney complex (≥ 3 of the following)
Cardiac myxoma
Cutaneous myxoma
Mammary myxoid fibroma 
Spotty mucocutaneous pigmentation
Lentigines—blue, junctional or compound nevi
Primary pigmented nodular adrenocortical disease
Testicular tumour—large cell calcifying Sertoli cell tumours, often bilateral/multicentric
Pituitary hGH-secreting tumour—acromegaly or gigantism

Carney,

John A., Irish-born U.S. pathologist, 1934–.
Carney complex - autosomal dominant disorder characterized by multiple lentigines, cardiac and cutaneous myxomas, and endocrine overactivity.
References in periodicals archive ?
Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.
Intrathoracic psammomatous melanotic schwannoma associated with the Carney complex. Ann Thorac Surg.
Temporal bone myxomas may be related to the Carney complex in some cases, characterized by various cardiac and cutaneous myxomas, melanotic schwannomas, endocrine tumors and cutaneous pigmentary manifestations (1-3, 7).
Pack et al., "Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the carney complex," Nature Genetics, vol.
Raque, "Malignant psammomatous melanotic schwannoma ofthe spine: A component of Carney complex," Surgical Neurology International, vol.
It's been known for years that Carney complex is associated with mutations that cause a deficiency of the regulatory protein that binds to RSK.
Almost a decade ago, the authors independently recognized that a subset of darkly pigmented melanocytic metastasizing tumors histologically reminiscent of melanomas occurring in animals, sometimes referred to as socalled animal-type melanomas, are histologically very similar to benign epithelioid blue nevus described in patients with Carney complex and also occurring sporadically, unassociated with the syndrome.
Epithelioid blue nevus was first described in patients with Carney complex. (39) Histologically indistinguishable lesions occurring in patients without the complex, which frequently metastasize to lymph nodes, have been described and referred to as pigmented epithelioid melanocytoma (PEM).
We identified 41 cases of conjunctival myxoma that appear to be pure cases without the syndrome association of Carney complex (see the Table).
Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas.