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Carney complex
Monday 23 June 2003
Definition: Rare heritable disorder including cutaneous lentigines, myxomas of skin, subcutaneous tissueand heart and endocrine neoplasms.
Its features overlap those of other multiple endocrine neoplasias and hamartomatoses, Peutz-Jeghers syndrome (PJS) in particular.
(The Carney syndrome terminology is avoided because it can be confused with the Carney triad.)
Synopsis
cutaneous lentigines
blue nevi (epithelioid blue nevus) (10847545, 9711672)
psammomatous melanotic schwannoma (9711672, 8434979)
- intraosseous melanotic schwannoma (16930334)
myxomas
- skin (21880053)
- subcutaneous tissue
- breast
- heart
superficial angiomyxoma (12532046, 12532046)
primary pigmented nodular adrenocortical disease (PPNAD) with familial Cushing’s syndrome (12424709)
endocrine tumors
- adrenal cortex adenoma
- pituitary adenoma
- testis
- thyroid
- PRKAR1A-associated virilizing ovarian stromal tumor (21934476)
schwannomas
osteochondromyxoma of bone (11176065)
ovarian cysts
ovarian carcinomas
- endometrioid adenocarcinoma
- mucinous adenocarcinoma
testicular tumors
- large-cell calcifying Sertoli cell tumor (11095480)
pancreatic ductal and acinar cell tumors (21900385)
Etiology
Locus CNC1 (MIM.160980) at 17q22-24: mutations in the PRKAR1A gene (MIM.188830) coding for the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (12424709)
Locus CNC2 (MIM.605244) at 2p16 (12676898)
Open references
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. Stratakis CA, Papageorgiou T, Premkumar A, Pack S, Kirschner LS, Taymans SE, Zhuang Z, Oelkers WH, Carney JA. J Clin Endocrinol Metab. 2000 Nov;85(11):4359-66. PMID: 11095480 [Free]
References
Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA. Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer. 2004 Jun;11(2):265-80. PMID: 15163302
Bossis I, Stratakis CA. PRKAR1A: normal and abnormal functions. Endocrinology. 2004 Dec;145(12):5452-8. PMID: 15331577
Stratakis CA, Matyakhina L, Courkoutsakis N, Patronas N, Voutetakis A, Stergiopoulos S, Bossis I, Carney JA. Pathology and molecular genetics of the pituitary gland in patients with the ’complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas’ (Carney complex). Front Horm Res. 2004;32:253-64. PMID: 15281351
Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA. Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer. 2004 Jun;11(2):265-80. PMID: 15163302