Preview

Карни-комплекс - синдром множественных эндокринных неоплазий

https://doi.org/10.14341/probl201258322-30

Аннотация

Карни-комплекс - редкий наследственный синдром с аутосомно-доминантным типом наследования, характеризующийся множественными неоплазиями, в том числе органов эндокринной системы. Типичными проявлениями этого синдрома являются микронодулярная пигментная дисплазия надпочечников, лентигиноз, миксомы сердца и кожи, крупноклеточные сертолиомы, а также ряд других неоплазий. На сегодняшний день в мире описано всего несколько сотен таких пациентов. Представлен обзор современных сведений о Карни-комплексе.

Об авторах

E Orlova



M Kareva



Список литературы

1. Carney J.A., Hruska L.S., Beauchamp G.D., Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity. Mayo Clin Proc 1986; 61: 165-172.

2. Carney J.A., Gordon H., Carpenter P.C., Shenoy B.V., Go V.L. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985; 64: 4: 270-283.

3. Vidaillet H.J.Jr., Seward J.B., Fyke E 3rd, Tajik A.J. NAME syndrome (nevi, atrial myxoma, myxoid neurofibroma, ephelides): a new and unrecognized subset of patients with cardiac myxoma. Minn Med 1984; 67: 12: 695-696.

4. Rhodes A.R., Silverman R.A., Harrist T.J., Perez-Atayde A.R. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the "LAMB" syndrome. J Am Acad Dermatol 1984; 10: 1: 72-82.

5. Kirschner L.S., Carney J.A., Pack S.D. et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000; 26: 89-92.

6. Stratakis C.A., Carney J.A. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. Intern Med 2009; 266: 1: 43-52.

7. Alrashdi I., Bano G., Maher E.R., Hodgson S.V. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Fam Cancer 2010; 9: 3: 443-447.

8. McGarrity T.J., Kulin H.E., Zaino R.J. Peutz-Jeghers syndrome. Am J Gastroenterol 2000; 95: 3: 596-604.

9. Józwiak S., Schwartz R.A., Janniger C.K. Leopard syndrome (cardiocutaneous lentiginosis syndrome). Cutis 1996; 57: 4: 208-214.

10. Bertherat J., Horvath A., Groussin L., Grabar S., Boikos S., Cazabat L., Libe R., René-Corail F., Stergiopoulos S., Bourdeau I., Bei T., Clauser E., Calender A., Kirschner L.S., Bertagna X., Carney J.A., Stratakis C.A. 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: 6: 2085-2091.

11. Stratakis С.A., Kirshner L.S., Carney J.A. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation. Clin Endocrinol Metab 2001; 86: 9: 4041-4046.

12. Almeida M.Q., Stratakis C.A. Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Pract Res Clin Endocrinol Metab 2010; 24: 6: 907-914.

13. Bauer A.J., Stratakis C.A. The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis. J Med Genet 2005; 42: 11: 801-810.

14. Horvath A., Stratakis C.A. Carney complex and lentiginosis. Pigment Cell Melanoma Res 2009; 22: 5: 580-587.

15. Vandersteen A., Turnbull J., Jan W., Simpson J., Lucas S., Anderson D., Lin J.P., Stratakis C., Pichert G., Lim M. Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Eur J Pediatr 2009; 168: 11: 1401-1404.

16. Wilkes D., McDermott D.A., Basson C.T. Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol 2005; 6: 7: 501-508.

17. Allen P.W. Myxoma is not a single entity: a review of the concept of myxoma. Ann Diagn Pathol 2000; 4: 2: 99-123.

18. Mateus C., Palangié A., Franck N., Groussin L., Bertagna X., Avril M.F., Bertherat J., Dupin N. Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol 2008; 59: 5: 801-810.

19. Reynen K. Cardiac myxomas. N Engl J Med 1995; 333: 24: 1610-1617.

20. Zembowicz A., Carney J.A., Mihm M.C. Pigmented epithelioid melanocytoma: a low-grade melanocytic tumor with metastatic potential indistinguishable from animal-type melanoma and epithelioid blue nevus. Am J Surg Pathol 2004; 28: 1: 31-40.

21. O'Grady T.C., Barr R.J., Billman G., Cunningham B.B. Epithelioid blue nevus occurring in children with no evidence of Carney complex. Am J Dermatopathol 1999; 21: 5: 483-486.

22. Meinardi J.R., Wolffenbutte B.H.R., Dullaart R.P.F. Cyclic Cushing's syndrome: a clinical challenge. Eur J Endocrinol 2007; 157: Issue 3: 245-254.

23. Stratakis C.A., Kirschner L.S. Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 1998; 30: 6-7: 456-463.

24. Louiset E., Stratakis C.A., Perraudin V., Griffin K.J., Libé R., Cabrol S., Fève B., Young J., Groussin L., Bertherat J., Lefebvre H. The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab 2009; 94: 7: 2406-2413.

25. Sarlis N.J., Chrousos G.P., Doppman J.L., Carney J.A., Stratakis C.A. Primary pigmented nodular adrenocortical disease: reevaluation of a patient with Сarney complex 27 years after unilateral adrenalectomy. J Clin Endocrinol Metab 1997; 82: 4: 1274-1278.

26. Anselmo J., Medeiros S., Carneiro V., Greene E., Levy I., Nestero­va M., Lyssikatos C., Horvath A., Carney J.A., Stratakis C.A. A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer. J Clin Endocrinol Metab 2011.

27. Young R.H. Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems. Mod Pathol 2005; 18: Suppl 2: S81-S98.

28. Jayasena S.N., Ariyasinghe J.T., Gunawardena D.M., Gunawardena S.A., de Silva M.V. Large-cell calcifying sertoli cell tumour of the testis detected at screening of a family with Carney syndrome. Urol Int 2005; 75: 4: 365-367.

29. Tanaka Y., Sano K., Ijiri R., Tachibana K., Kato K., Terashima K. A case of large cell calcifying Sertoli cell tumor in a child with a history of nasal myxoid tumor in infancy. Pathol Int 1999; 49: 5: 471-476.

30. Petersson F., Bulimbasic S., Sima R., Michal M., Hora M., Malagon H.D., Matoska J., Hes O. Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene. Hum Pathol 2010; 41: 4: 552-559.

31. Gierke C.L., King B.F., Bostwick D.G., Choyke P.L., Hattery R.R. Large-cell calcifying Sertoli cell tumor of the testis: appearance at sonography. Am J Roentgenol 1994; 163: 2: 373-375.

32. Shin S.L., Outwater E.K. Benign large cell calcifying Sertoli cell tumor of the testis in a prepubescent patient. Am J Roentgenol 2007; 189: 2: W65-W66.

33. Grandone A., Miraglia Del Giudice E., Cirillo G., Santarpia M., Coppola F., Perrone L. Prepubertal Gynecomastia in Two Monozygotic Twins with Peutz-Jeghers Syndrome: Two Years' Treatment with Anastrozole and Genetic Study. Horm Res Paediatr 2011.

34. Stratakis C.A., Papageorgiou T., Premkumar A., Pack S., Kirschner L.S., Taymans S.E., Zhuang Z., Oelkers W.H., Carney J.A. Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. J Clin Endocrinol Metab 2000; 85: 11: 4359-4366.

35. Boikos S.A., Stratakis C.A. Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. Pituitary 2006; 9: 203-209.

36. Carrasco C.A., Rojas-Salazar D., Chiorino R., Venega J.C., Wohllk N. Melanotic nonpsammomatous trigeminal schwannoma as the first manifestation of Carney complex: case report. Neurosurgery 2006; 59: 6.

37. Carney J.A., Boccon-Gibod L., Jarka D.E., Tanaka Y., Swee R.G., Unni K.K., Stratakis C.A. Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders. Am J Surg Pathol 2001; 25: 2: 164-176.

38. Stratakis C.A, Carney J.A., Lin J.P. et al. Carney complex, а 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.

39. Casey M., Mah C., Merliss A.D. et al. Identification of a novel genetic locus for familialcardiac myxomas and carney complex. Circulation 1998; 98: 2560-2566.

40. Kirschner L.S., Sandrini F., Monbo J., Lin J.-P., Carney J.A., Stratakis C.A. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet 2000; 9: 20: 3037-3046.

41. Horvath A., Bossis I., Giatzakis C., Levine E., Weinberg F., Meoli E., Robinson-White A., Siegel J., Soni P., Groussin L., Matyakhina L. Verma S., Remmers E., Nesterova M., Carney J.A., Bertherat J., Stratakis C.A. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 2008; 14: 2: 388-395.

42. Gennari M., Stratakis C.A., Hovarth A., Pirazzoli P., Cicognani A. A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. Clin Endocrinol (Oxf) 2008; 69: 5: 751-755.

43. Groussin L., Horvath A., Jullian E. et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Enocrinol Metab 2006; 91: 1475-1484.

44. Pereira A.M., Hes F.J., Horvath A. et al. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Enocrinol Metab 2010; 95: 338-342.

45. Libé R., Horvath A., Vezzosi D., Fratticci A., Coste J., Perlemoine K., Ragazzon B., Guillaud-Bataille M., Groussin L., Clauser E., Raffin-Sanson M.L., Siegel J., Moran J., Drori-Herishanu L., Faucz F.R., Lodish M., Nesterova M., Bertagna X., Bertherat J., Stratakis C.A. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab 2011; 96: 1: E208-E214.

46. Wong M.L., Whelan F., Deloukas P., Whittaker P., Delgado M., Cantor R.M., McCann S.M., Licinio J. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. Proc Natl Acad Sci USA 2006; 103: 41: 15124-15129.

47. Boikos S.A., Horvath A., Heyerdahl S., Stein E., Robinson-White A., Bossis I., Bertherat J., Carney J.A., Stratakis C.A. Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. Horm Metab Res 2008; 40: 5: 347-353.

48. Pereira A.M., Hes F.J., Horvath A. et al. Asociation of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Endocrinol Metab 2010; 95: 338-342.

49. Кольман Я., Рем Л.-Г. Наглядная биохимия. 2-е издание. Пер. с нем. М: Мир 2004; 356-357.

50. Bossis I., Stratakis C.A. Minireview: PRKAR1A: normal and abnormal functions. Endocrinology 2004; 145: 12: 5452-5458.

51. Bossis I., Voutetakis A., Bei T., Sandrini F., Griffin K.J., Stratakis C.A. Protein kinase A and its role in human neoplasia; the Carney complex paradigm. Endocrine Rel Cancer 2004; 11: 265-280.


Для цитирования:


., . Карни-комплекс - синдром множественных эндокринных неоплазий. Проблемы Эндокринологии. 2012;58(3):22-30. https://doi.org/10.14341/probl201258322-30

For citation:


Orlova E.M., Kareva M.A. Carney complex - multiple endocrine neoplasia syndrome. Problems of Endocrinology. 2012;58(3):22-30. (In Russ.) https://doi.org/10.14341/probl201258322-30

Просмотров: 23


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 0375-9660 (Print)
ISSN 2308-1430 (Online)