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Carney complex

Monday 23 June 2003

Definition: Carney complex (CNC) is a rare heritable disorder including cutaneous lentigines, myxomas of skin, subcutaneous tissueand heart and endocrine neoplasms. Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS).

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)

- myxomas

- superficial angiomyxoma (12532046, 12532046)

- adrenal anomalies

- endocrine tumors

- schwannomas
- osteochondromyxoma of bone (11176065)
-  ovarian cysts
- ovarian carcinomas

-  testicular tumors

- 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

- Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. Lowe KM, Young WF Jr, Lyssikatos C, Stratakis CA, Carney JA. Am J Surg Pathol. 2017 Feb;41(2):171-181. doi : 10.1097/PAS.0000000000000748 PMID: 27875378

- 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