Carney complex, a familial multiple neoplasia and lentiginosis syndrome: Analysis of 11 kindreds and linkage to the short arm of chromosome 2

Journal of Clinical Investigation

Volumn 97, Issue 3, 1996, Pages 699-705

  Stratakis, Constantine A ^a,c   Carney, J Aidan ^b   Lin, Jing Ping ^a   Papanicolaou, Dimitris A ^a   Karl, Michael ^a   Kastner, Daniel L ^a   Pras, Elon ^a   Chrousos, George P ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b MAYO CLINIC   (United States)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Carney complex; chromosome 2p; linkage; multiple endocrine neoplasia (MEN); myxomas

Indexed keywords

ACROMEGALY; ARTICLE; CHROMOSOME 2P; CLINICAL FEATURE; CUSHING SYNDROME; FAMILIAL CANCER; GENE LOCATION; GENETIC LINKAGE; GENETIC MARKER; HEART MYXOMA; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SKIN PIGMENTATION; SKIN TUMOR; SYNDROME DELINEATION;

EID: 0030049026     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118467     Document Type: Article

References (76)

1. Carney, J.A., and W.F. Young. 1992. Primary pigmented nodular adrenocortical disease and its associated conditions. The Endocrinologist. 2:6-21.
2. Carney, J.A., J.T. Headington, and W.P.D. Su. 1986. Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch. Dermatol. 122:790-798.
3. McCarthy, P.M., J.M. Piehler, H.V. Schaff, J.R. Pluth, T.A. Orzulak, H J. Vidaillet, Jr., and J.A. Carney. 1986. The significance of multiple, recurrent, and "complex" cardiac myxomas. J. Thorac. Cardiovasc. Surg. 91:389-396.
4. Carney, J.A 1985. Differences between nonfamilial and familial cardiac myxoma. Am. J. Surg. Pathol. 9:53-55
5. Van Gelder, H.M., D.J. O'Brien, E.D. Staples, and J.A. Alexander. 1992. Familial cardiac myxoma. Ann. Thorac. Surg. 53:419-424.
6. Carney, J.A., and B.C Toorkey. 1991. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast: a heritable disorder with special associations including cardiac and cutaneous myxomas. Am. J. Surg. Pathol. 15:713-721.
7. Cook, C.A., B.A. Lund, and J.A. Carney. 1987. 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. 63:175-183.
8. Ferreiro, J.A., and J.A. Carney 1994. Myxomas of the external ear and their significance Am. J. Surg. Pathol. 18:274-280.
9. Burgdorf, W.H C., and G. Koester. 1992. Multiple cutaneous tumors: what do they mean? J. Cutaneous Pathol. 19.449-457.
10. Grossniklaus, H.E., I.W. McLean, and J.J. Gillespie. 1991 Bilateral eyelid myxomas in Carney's complex Br. J. Ophthalmol. 75:251-252.
11. Utiger, C.A., and J.T. Headington. 1993. Psammomatous melanotic Schwannoma: a new cutaneous marker for Carney's complex. Arch. Dermatol 129:202-204.
12. Carney, J.A. 1990. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome Am. J. Surg. Pathol. 14:206-222.
13. Yen, R.S., B.R. Allen, R Ott, and M. Brodsky. 1992. The syndrome of right atrial myxoma, spotty skin pigmentation, and acromegaly. Am. Heart J 123:243-244.
14. Manthos, C.L., R S. Sutherland, J.E. Sims, and J.J. Perloff. 1993. Carney's complex with hormone-producing Sertoli cell tumor of the testicle. J. Urol 150:1511-1512.
15. Carney, J.A., and B.C. Toorkey. 1991. Ductal adenoma of the breast with tubular futures A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Am J. Surg. Pathol 15:722-731.
16. Carney, J.A., H. Gordon, P.C. Carpenter, B.V. Shenoy, and V.L.W. Go. 1985. The complex of myxomas, spotty pigmentation, and endocrine overactivity Medicine (Baltimore). 64:270-283
17. Shenoy, B.V., P.C Carpenter, and J.A. Carney. 1984. Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. Am J. Surg. Pathol. 8:335-344.
18. Chute, A.L , G.C. Robinson, and W.L. Donoghue. 1949. Cushing's syndrome in children J. Pediatr. 34:30-39.
19. De Moor, P., H. Roels, K. Delaere, and J Crabbe. 1965. Unusual case of adrenocortical hyperfunction J Clin. Endocrinol. & Metab. 25:612-620.
20. Meador, C.K., B. Bowdoin, W.C Owen, and T A. Farmer. 1967. Primary adrenocortical nodular dysplasia: a rare cause of Cushing's syndrome J Clin. Endocrinol. & Metab. 27:1255-1263.
21. Ruder, H.J., D.L. Loriaux, and M.B. Lipsett 1974. Severe osteopenia in young adults associated with Cushing's syndrome due to micronodular adrenal disease. J Clin. Endocrinol & Metab 39:1138-1147.
22. Marova, E.I., M.E. Bronstein, K.N. Kazeev, and N.P. Yuryeva. 1980. Microadenomatosis of the adrenal cortex and hypercortisolism in pubertal age. Sov. Med. 3.15-20.
23. Laboux, L., J. Mussini-Montpellier, J.L. Michaud, F. Gaillard, C. Pelleray, and E. Cornet 1978. Myxome du ventricule droit chez des jurneaux monozygotes. Ablation chirurgicale. Arch Mal. Coeur. 8:953-959.
24. Atherton, D.J., D.W. Pitcher, R.S. Wells, and D.M. Macdonald. 1980. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br. J. Dermatol. 103:421-429.
25. Rhodes, A.R., R.A. Silverman, T J. Harrist, and A.R. Perez-Atayde 1984. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the "LAMB" syndrome. J. Am. Acad. Dermatol. 10:72-82
26. Schweizer-Cagianut, M., E.R. Froesch, and C E. Hedinger. 1980 Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia). Acta Endocrinol 94:529-535.
27. Schweizer-Cagianut, M., R. Salomon, and C.E. Hedinger 1982. Primary adrenocortical nodular dysplasia with Cushing's syndrome and cardiac myxomas: a peculiar familial disease. Virchows Arch. Pathol. Anat 397:183-192.
28. Houwen, R.H.J., S.L.S. Drop, F.W.J. Hazebroek, and F.W. ten Kate. 1983. Pituitary-dependent Cushing disease and primary adrenocortical nodular dysplasia in childhood Presentation of 4 cases. Eur. J. Pediatr. 141:101-108.
29. Salomon, F., E.R. Froesh, and C.E. Hedinger, 1990. Familial Cushing's syndrome ("Carney complex") (letter) N. Engl. J. Med. 322:1470.
30. Carney, J.A. 1990. Familial Cushing's syndrome ("Carney complex") (letter) N. Engl. J. Med. 322:1470.
31. Gagel, R.F. 1992. Multiple Endocrine Neoplasia. In Williams Textbook of Endocrinology, J.D. Wilson, and D.W. Foster, editors. W.B. Saunders Co , Philadelphia, 1537-1553.
32. Jeghers, H., V.A. McKusick, and K.H. Katz. 1949. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance. N. Engl. J. Med. 241:1031-1036.
33. Senanez, H., F Maine-Garzon, and R. Kolski. 1976. Cardiocutaneous syndrome (the LEOPARD syndrome). Review of the literature and a new family. Clin. Genet 9:266-276.
34. Michels, V V., B. Mokri, D.G. Piergras, and H.O. Perry. 1995. Brief report: a familial syndrome of arterial dissections with lentiginosis. N. Engl. J Med. 332:576-579.
35. Rustgi, A.K 1994. Hereditary gastrointestinal polyposis and non-polyposis syndromes. N. Engl. J. Med. 331.1694-1702.
36. Carney, J.A., L.S. Hruska, G.D. Beauchamp, and H. Gordon. 1986 Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin. Proc. 61:165-172.
37. Calender, A., I. Schuffenecker, and G.M Lenoir 1992. The genetics of multiple endocrine neoplasia (MEN). Horm. Res. 38(Suppl. 2):16-23.
38. Mulligan, L.M., C. Eng, C.S Healey, D. Clayton, J.B.J. Kwok, E Gardner, M A. Ponder, A. Frilling, C E Jackson, H. Lehnert, et al. 1994. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet. 6.70-74
39. Eng, C., D.P. Smith, L M. Mulligan, M.A. Nagai, C.S. Healey, M A Ponder, E Gardner, G.F.W. Scheumann, C.E. Jackson, A. Tunnacliffe, and B.A.J. Ponder. 1994. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum. Mol Genet. 3:237-241.
40. Dewald, G.W., R.J. Dahl, J L Spurbeck, J A. Carney, and H. Gordon 1987 Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. Mayo Clin. Proc 62:558-567.
41. Dijkhuizen, T., E. van der Derg, W.M. Molenaar, J.J. Meuzelaar, and B. de Jong 1992. Cytogenetics of a case of cardiac myxoma Cancer Genet Cytogenet. 63:73-75.
42. Richkind, K.E., D. Wason, and H.J. Vidaillet. 1994. Cardiac myxoma characterized by clonal telomeric association. Genes Chromosomes & Cancer. 9:68-71.
43. Gantz, I., T. Yamada, T. Tashiro, Y. Konda, Y. Shimoto, H Miwa, and J.M. Trent. 1994. Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24 3. Genomics. 19:394-395.
44. Chowdhary, B.P., I. Gustavson, J.E.S. Wilkberg, and V. Chhajlani 1995 Localization of the human melanocortin-5 receptor gene (MC5R) to chromosome band 18p11.2 by fluorescence in situ hybridization. Cytogenet. Cell Genet 68.79-81
45. Spiegel, A.M., A. Shenker, and L.S. Weinstein. 1992. Receptor-effector coupling by G-proteins: implications for normal and abnormal signal transduction. Endocr. Rev. 13:536-565.
46. Takahashi, H., Y Hakamata, Y. Watanabe, R. Kikuno, T. Miyata, and S. Numa. 1983 Complete nucleotide sequence of the human corticotropin beta-lipotropin precursor gene. Nucleic Acids Res. 11:6847-6858.
47. Danoff, A., S Jormark, D. Lorber, and N. Fleischer. 1987. Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines and spindle cell tumors, report of a kindred. Arch. Intern. Med 143:443-448.
48. Wagner, P D , and T. Bohum. 1994. The Carney complex. Hosp Physician 30:45-49.
49. Burke, A.P., and R. Virmani. 1993. Cardiac myxoma: a clinicopathologic study. Am J Clin. Pathol. 100:671-680
50. Morgan, D.L , J. Palazola, W. Reed, H.H. Bell, L.H. Kindred, and G.D. Beauchamp. 1977. Left heart myxomas. Am. J. Cardiol. 40:611-614.
51. Kennedy, R.H , J.C. Flanagan, R C Eagle, Jr., and J.A Caney 1991. The Carney complex with ocular signs suggestive of cardiac myxoma. Am J. Ophthalmol. 111:699-702.
52. Young, W F., Jr., J.A Carney, B.U. Musa, N.M. Wulffraat, J.W. Lens, and H.A. Drexhage. 1989. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. reinvestigation 50 years later. N. Engl. J Med. 321.1659-1664.
53. Cheung, P.S.Y , and N.W. Thompson. 1989. Carney's complex: primary pigmented nodular adrenocortical disease and pigmented and myxomatous lesions Surg. Gynecol. Obstet. 168:413-416.
54. Bain, J. 1986. Carney's complex Mayo Clin. Proc. 113.370-377.
55. Pras, E., I. Aksentijevich, L Gruberg, J.E. Balow, L Prosen, M. Dean, A.D Steinberg, M. Pras, and D.L. Kastner. 1992. Mapping of a gene causing familial mediterranean fever to the short arm of chromosome 16. N. Engl. J. Med. 326.1509-1513.
56. GENETHON. 1994. The 1993-1994 Genethon human genetic linkage map Nat. Genet. 7.221-1246.
57. Leach, F.S., N.C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen, R. Parsons, P. Peltornaki, P. Sistonen, L A Aaltonen, M. Nystrom-Lathi, et al. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 75.1215-1225
58. Leach, F.S., N.C Nicolaides, P Sistonen, J -W. Yu, F -T. Kao, A. de la Chapelle, K.W. Kinzler, and B. Vogelstein. 1994. Three dinucleotide repeat polymorphisms proximal to the D2S123 locus. Hum. Mol. Genet 3:2082.
59. Morris, J.C., C.E. Bertram, P.J. Lowry, and D. Savva 1994. Cryptic trinucleotide repeat polymorphism in the POMC gene. Hum Mol Genet 3:2080.
60. Pras, E., N. Arber, I. Aksentijevich, G. Katz, J.M. Schapiro, L. Prosen. L. Gruberg, D. Havel, U. Liberman, J. Weissenbach, et al 1994. Localization of a gene causing cystinuria to chromosome 2p. Nat. Genet. 6:415-419.
61. Lathrop, G.M., J.M. Lalouel, C Julier, and J. Ott. 1984. Strategies for multilocus linkage analysis in humans. Proc Natl. Acad. Sci. USA. 81:3443-3446.
62. Cottingham , R.W., Jr., R.M. Idury, and A.A. Schaffer 1993. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53.252-263.
63. Schaffer, A.A., S.K. Gupta, K. Shriram, and R.W. Cottingham, Jr 1994 Avoiding recomputation in genetic linkage analysis. Hum. Hered 44 225-237.
64. Stratakis, C.A., E. Pras, C. Tsigos, M. Karl, D.A. Papanicolaou, D.L. Kastner, J.A. Carney, and G.P. Chrousos. 1995. Genetics of Carney complex: parent of origin effects and putative non-Mendelian features in an autosomal dominant disorder; absence of common defects of the ACTH receptor and RET genes. Ped. Res. 37:99a (Abstr.)
65. Stratakis, C.A , E. Pras, M Karl, D.A. Papanicolaou, D.L. Kastner, J.A. Carney, and G.P. Chrousos. 1995. Carney complex and primary pigmented nodular adrenocortical disease: segregation, simulation and linkage analysis using the candidate gene approach. 77th Annual Meeting of the Endocrine Society. Washington DC (Abstr.).
66. Peltomaki, P., L.A. Aaltonen, P. Sistonen, L. Pylkkanen, J.-P. Mecklin, H. Jarvinen, J.S. Green, J.S Jass, J.L. Weber, F S. Leach, et al. 1993. Genetic mapping of a locus predisposing to human colorectal cancer. Science (Wash. DC) 260:810-812.
67. Spurr, N.K., S. Cox, and S Naylor. 1993. Report and abstracts of the second international workshop on human chromosome 2 mapping. Cytogenet. Cell Genet. 64:69-92.
68. Fishel, R., A Ewel, S. Lee, M.K. Lescoe, and J. Griffith 1994. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science (Wash DC). 266:1403-1405.
69. Milner, M.R., L. Semmes, A. Silverman, and B.M. Shmookler. 1990. Familial Cushing's syndrome ("Carney complex"), (letter) N. Engl. J. Med 322: 1469.
70. Handley, J., D. Carson, J. Sloan, M. Walsh, C D Thornton, D. Hadden, and E.A. Bingham. 1992. Multiple lentigines, myxoid tumour and endocrine overactivity; four cases of Carney's complex. Br. J. Dermatol 126:367-371.
71. Ichiba, Y., Y. Nishizaki, and M. Tanizaki. 1992. Cushing's syndrome due to primary pigmented nodular adrenocortical disease with cardiac myxomas and mucocutaneous lentigines. Acta Pediatr 81:91-92.
72. Baillot, R., J.-F Tanguay, R. Lebeau, M. Klein, S. Allard, A.M. Grothe, L Dontigny, P. Page, and R. Cossette. 1992. Syndrome cardio-cutane et myxomes cardiaques: presentation d' un cas et experience chirugicale de 17 ans Can. J. Surg. 35:79-83.
73. Berkhout, F.T., R.J.M. Croughs, N.M. Wulffraat, and H.A. Drexhage. 1989. Familial Cushing's syndrome due to nodular adrenocortical dysplasia is an inherited disease of immunological origin. Clin. Endocrinol. 31:185-191.
74. Palombo, F., P. Gallinari, I. Iaccarino, T. Lettieri, M. Hughes, A. D'Arrigo, O Truong, J.J. Hsuan, and J. Jirichny 1995. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science (Wash. DC) 268:1912-1914
75. Aaltonen, L.A., P. Peltomaki, F.S Leach, P. Sistonen, L. Pylkannen, J.-P. Mecklin, H. Jarvinen, S.M. Powell, J. Jen, S.R. Hamilton, et al. 1993. Clues to the pathogenesis of familial colorectal cancer. Science (Wash. DC). 260:812-816.
76. Quinn, A.G., E. Healy, I. Rehman, S Sikkink, and J.L. Rees. 1995. Microsatellite instability in human non-melanoma and melanoma skin cancer. J. Invest Dermatol. 104:309-312