Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 1, 1996, Pages 124-129

  Karl, Michael ^a,e   Von Wichert, Götz ^e   Kempter, Eric ^e   Katz, David A ^b,d   Reincke, Martin ^f   Mönig, Heiner ^e   Ali, Iqbal U ^c   Stratakis, Constantine A ^a   Oldfield, Edward H ^c   Chrousos, George P ^a   Schulte, Heinrich M ^g  

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

^b Office of the Director   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e Institut fur Hormon und Fortpflanzungsforschung IHF   (Germany)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g UNIVERSITY OF KIEL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; GLUCOCORTICOID RECEPTOR; PROTEIN P53;

ADULT; AGED; ARTICLE; CARCINOGENESIS; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEUKOCYTE; NELSON SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION;

ADRENOCORTICOTROPIC HORMONE; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GROWTH HORMONE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NELSON SYNDROME; RECEPTORS, GLUCOCORTICOID; TUMOR SUPPRESSOR PROTEIN P53;

EID: 9044238065     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.1.124     Document Type: Article

References (35)

1. Nelson DH, Meakin JW, Dealy JB, Matson DD, Emerson K, Thorn GW. 1958 ACTH-producing tumor of the pituitary gland. N Engl J Med. 259:161-164.
2. Moore TJ, Dluhy RG, Williams GH, Cain JP. 1976 Nelson's syndrome: frequency, prognosis, and effect of prior pituitary irradiation. Ann Intern Med. 85:731-734.
3. Weinstein M, Tyrrell B, Newton TH. 1976 The sella turcica in Nelson's syndrome. Radiology. 118:363-365.
4. Drouin J, Trifiro MA, Plante RK, Nemer M, Eriksson P, Wrange Ö. 1989 Glucocorticoid receptor binding to a specific DNA sequence is required for hormone-dependent repression of pro-opiomelanocortin gene transcription. Mol Cell Biol. 9:5305-5314.
5. Riegel AT, Lu Y, Remenick J, Wolford RG, Berard DS, Hager GL. 1991 Proopiomelanocortin gene promoter elements required for constitutive and glucocorticoid-repressed transcription. Mol Endocrinol. 5:1973-1982.
6. Drouin J, Sun YL, Chamberland M, et al. 1993 Novel glucocorticoid receptor complex with DNA element of the hormone-repressed POMC gene. EMBO J. 12:145-156.
7. Meikle AW. 1982 Dexamethasone suppression tests: usefulness of simultaneous measurement of plasma cortisol and dexamethasone. Clin Endocrinol (Oxf). 16:401-408.
8. Meikle AW, Stanchfield JB, West CD, Tyler FH. 1974 Hydrocortisone suppression test for Cushing syndrome. Arch Intern Med. 134:1068-1071.
9. Mönig H, Ali IU, Oldfield EH, Schulte HM. 1993 Structure of the POMC promoter region in pituitary and extrapituitary ACTH producing tumors. Exp Clin Endocrinol. 101:36-38.
10. Chrousos GP, Detera-Wadleigh SD, Karl M. 1993 Syndromes of glucocorticoid resistance. Ann Intern Med. 119:1113-1124.
11. Buckley N, Bates AS, Broome JC, et al. 1994 P53 protein accumulates in Cushing adenomas and invasive non-functional adenomas. J Clin Endocrinol Metab. 79:1513-1516.
12. Sambrook J, Fritsch EF, Maniatis T. 1989 Molecular cloning - a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory.
13. Hsu S-M, Raine L, Fanger H. 1981 Use of avidin-perioxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem. 29:577-580.
14. Karl M, Lamberts SWJ, Detera-Wadleigh SD, et al. 1993 Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J Clin Endocrinol Metab. 76:683-689.
15. Hollenberg SM, Weinberger JC, Ong ES, et al. 1985 Primary structure and expression of a functional human glucocorticoid receptor cDNA. Nature. 318: 635-641.
16. Encio IJ, Detera-Wadleigh SD. 1991 The genomic structure of the human glucocorticoid receptor. J Biol Chem. 266:7182-7188.
17. Herman V, Drazin NZ, Gonsky R, Melmed S. 1993 Molecular screening of pituitary adenomas for gene mutations and rearrangements. J Clin Endocrinol Metab. 77:50-55.
18. Giguere V, Hollenberg SM, Rosenfeld MG, Evans RM. 1986 Functional domains of the human glucocorticoid receptor. Cell. 46:654-652.
19. Dalman FC, Scherrer LC, Taylor LP, Akil H, Pratt WB. 1991 Localization of the 90-kDa heat shock protein-binding site within the hormone-binding domain of the glucocorticoid receptor by peptide competition. J Biol Chem. 266:3482-3490.
20. Ray A, Prefontaine KE. 1994 Physical association and functional antagonism between the p65 subunit of transcription factor NF-κB and the glucocorticoid receptor. Proc Natl Acad Sci USA. 91:752-756.
21. Lamberts SWJ, Koper JW, Biemond P, den Holder FH, de Jong FH. 1992 Cortisol receptor resistance: the variability of its clinical presentation and response to treatment. J Clin Endocrinol Metab. 74:313-321.
22. Scheithauer BW, Kovacs K, Randall RV. 1983 The pituitary gland in untreated Addison's disease. Arch Pathol Lab Med. 107:484-487.
23. Herman V, Fagin J, Gonsky R, Kovacs K, Melmed S. 1990 Clonal origin of pituitary adenomas. J Clin Endocrinol Metab. 71:1427-1433.
24. Alexander JM, Biller BMK, Bikkal H, Zervas NT, Arnold A, Klibanski A. 1990 Clinically nonfunctioning pituitary tumors are monoclonal in origin. J Clin Invest. 86:336-340.
25. Gicquel C, Le Bouc Y, Luton J-P, Girard F, Bertagna X. 1992 Monoclonality of corticotroph macroadenomas in Cushing's disease. J Clin Endocrinol Metab. 75:472-475.
26. Lyons J, Landis CA, Harsh G, et al. 1990 Two G protein oncogenes in human endocrine tumors. Science. 249:655-659.
27. Boggild MD, Jenkinson S, Pistorello M, et al. 1994 Molecular genetic studies of sporadic pituitary tumors. J Clin Endocrinol Metab. 78:387-392.
28. 8 α-gene in nonfunctioning pituitary tumors. J Clin Endocrinol Metab. 77:765-769.
29. Cryns VL, Alexander JM, Klibanski A, Arnold A. 1993 The retinoblastoma gene in human pituitary tumors. J Clin Endocrinol Metab. 77:644-646.
30. Friend KE, Chiou YK, Lopes MBS, Laws Jr ER, Hughes KM, Shupnik MA. 1994 Estrogen receptor expression in human pituitary; correlation with immunohistochemistry in normal tissue, and immunohistochemistry and morphology in macroadenomas. J Clin Endocrinol Metab. 78:1497-1504.
31. Cai WY, Alexander JM, Hedley-Whyte ET, et al. 1994 Ras mutations in human prolactinomas and pituitary carcinomas. J Clin Endocrinol Metab. 78:89-93.
32. Friedman E, Adams EF, Höög A, et al. 1994 Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors. J Clin Endocrinol Metab. 78:568-574.
33. Karga HJ, Alexander JM, Hedley-Whyte ET, Klibanski A, Jameson JL. 1992 Ras invitations in human pituitary tumors. J Clin Endocrinol Metab. 74:914-919.
34. Pei L, Melmed S, Scheithauer B, Kovacs K, Prager D. 1994 H-ras mutations in human pituitary carcinoma metastases. J Clin Endocrinol Metab. 78:842-846.
35. Alvaro V, Levy L, Dubray C, et al. 1943 Invasive human pituitary tumors express a point-mutated α-protein kinase-C. J Clin Endocrinol Metab. 77:1125-1129.