Carney complex
Authors:
D. Kacerovská 1,2; M. Michal 1,2; R. Šíma 1,2; P. Grossmann 1,2; D. V. Kazakov 1,2
Authors place of work:
Šiklův patologický ústav, FN a LF UK, Plzeň
1; Bioptická laboratoř s. r. o., Plzeň
2
Published in the journal:
Čes.-slov. Patol., 47, 2011, No. 4, p. 192-197
Category:
Reviews Article
Summary
Carney complex is a clinically and genetically heterogeneous disease, with at least two genetic loci including the PRKAR1A gene located on chromosome 17 and the CNC2 locus mapped to chromosome 2. Clinically this syndrome is characterized by multiple myxomas occurring in different anatomic sites, mucocutaneous pigmentary lesions, and a variety of non-endocrine and endocrine tumors, often causing endocrine abnormalities, involving various organs.
Knowledge of morphological findings in CNC patients with their typical locations is necessary to raise suspicion of this syndrome by pathologists. Confirmation of the diagnosis allows regular clinical check-ups and early treatment of these patients.
Keywords:
Carney complex – cutaneous myxoma – cardiac myxoma – primary pigmented nodular adrenocortical disease – large-cell calcifying Sertoli cell tumor – psammomatous melanotic schwannoma – PRKAR1A gene – CNC2 locus
Zdroje
1. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86: 4041–4046.
2. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985; 64: 270–283.
3. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol 1980; 103: 421–429.
4. Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the “LAMB” syndrome. J Am Acad Dermatol 1984; 10: 72–82.
5. Casey M, Mah C, Merliss AD, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998; 98: 2560–2566.
6. DeLellis RA, Lloyd RV, Heitz PU, Eng CE. World Health Organization of Tumours. Pathology and Genetics of Tumours of Endocrine organs. Lyon: IARCPress; 2004.
7. LeBoit PE, Günter B, Weedon D, Sarasin A. Pathology & Genetics Skin Tumours. World Health Organization Classification of Tumours. Lyon: IARCPress; 2006.
8. Carney JA, Headington JT, Su WP. Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol 1986; 122: 790–798.
9. Carney JA. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Intern Med 1987; 147: 418–419.
10. Kacerovska D, Sima R, Michal M, et al. Carney complex: a clinicopathologic and molecular biological study of a sporadiccase, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene. J Am Acad Dermatol 2009; 61: 80–87.
11. Stratakis CA. Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. Horm Res 2000; 54: 334–343.
12. Cook CA, Lund BA, Carney JA. Mucocutaneous pigmented spots and oral myxomas: the oral manifestations of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Oral Surg Oral Med Oral Pathol 1987; 63: 175–183.
13. Carney JA, Stratakis CA. Epithelioid blue nevus and psammomatous melanotic schwannoma: the unusual pigmented skin tumors of the Carney complex. Semin Diagn Pathol 1998; 15: 216–224.
14. Bertherat J, Horvath A, Groussin L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5’-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 2085–2091.
15. Pucci A, Bartoloni G, Tessitore E, Carney JA, Papotti M. Cytokeratin profile and neuroendocrine cells in the glandular component of cardiac myxoma. Virchows Arch 2003; 443: 618–624.
16. Carney JA, Stratakis CA. Ductal adenoma of the breast and the Carney complex. Am J Surg Pathol 1996; 20: 1154–1155.
17. Lloyd RV, Douglas BR, Young WF. Endocrine diseases. Atlas of nontumor pathology. First series. Fascicle 1. AFIP, Washington, DC; 2002.
18. Premkumar A, Stratakis CA, Shawker TH, Papanicolaou DA, Chrousos GP. Testicular ultrasound in Carney complex: report of three cases. J Clin Ultrasound 1997; 25: 211–214.
19. Washecka R, Dresner MI, Honda SA. Testicular tumors in Carney’s complex. J Urol 2002; 167: 1299–1302.
20. Hes O, Michal M, Mukenšnabl P, Veličkinová H, Hora M, Boudová L. Nádory varlat. EUROVERLAG: Plzeň; 2007.
21. Jayasena SN, Ariyasinghe JT, Gunawardena DM, Gunawardena SA, de Silva MV. Large-cell calcifying sertoli cell tumour of the testis detected at screening of a family with Carney syndrome. Urol Int 2005; 75: 365–367.
22. Kratzer SS, Ulbright TM, Talerman A, et al. Large cell calcifying Sertoli cell tumor of the testis: contrasting features of six malignant and six benign tumors and a review of the literature. Am J Surg Pathol 1997; 21: 1271–1280.
23. Carney JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol 1990; 14: 206–222.
24. Stratakis CA, Courcoutsakis NA, Abati A, et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocrinol Metab 1997; 82: 2037–2043.
25. Carney JA, Boccon-Gibod L, Jarka DE, et al. Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders. Am J Surg Pathol 2001; 25: 164–176.
26. Stratakis CA, Carney JA, Lin JP, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996; 97: 699–705.
27. Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet 2000; 9: 3037–3046.
28. Horvath A, Bossis I, Giatzakis C, et al. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 2008; 14: 388–395.
29. Groussin L, Horvath A, Jullian E, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 2006; 91: 1943–1949.
Štítky
Anatomical pathology Forensic medical examiner ToxicologyČlánok vyšiel v časopise
Czecho-Slovak Pathology
2011 Číslo 4
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