Carney syndrome

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

单词	carney syndrome
释义	Carney syndrome 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
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