Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: A clinical and molecular genetic investigation

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 6, 2005, Pages 3773-3779

  Matyakhina, Ludmila ^a   Freedman, Reneé J ^a   Bourdeau, Isabelle ^a,d   Wei, Ming Hui ^b   Stergiopoulos, Sotirios G ^a   Chidakel, Aaron ^a   Walther, McClellan ^c   Abu Asab, Mones ^c   Tsokos, Maria ^c   Keil, Meg ^a   Toro, Jorge ^c   Linehan, W Marston ^c   Stratakis, Constantine A ^a  

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

^b SAIC FREDERICK INC   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; DNA; FUMARATE HYDRATASE;

ADRENAL CORTEX HYPERFUNCTION; ADRENAL GLAND; ADRENAL TUMOR; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CUSHING SYNDROME; DATA BASE; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEALTH CARE ORGANIZATION; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HUMAN; HUMAN TISSUE; KIDNEY CARCINOMA; LEIOMYOMATOSIS; MASSIVE MACRONODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL; ADRENAL CORTEX TUMOR; BLOOD; CHROMOSOME 1; CHROMOSOME MAP; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HEMISPHERIC DOMINANCE; ISOLATION AND PURIFICATION; PATHOLOGY; SKIN; TREATMENT OUTCOME;

ADRENAL CORTEX NEOPLASMS; ADRENAL GLANDS; AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CUSHING SYNDROME; DNA; FEMALE; FUNCTIONAL LATERALITY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEIOMYOMATOSIS; SKIN; TREATMENT OUTCOME;

EID: 21244452808     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2004-2377     Document Type: Article

References (44)

1. Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA 2001 Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 98:3387-3392
2. Linehan WM, Walther MM, Zbar B 2003 The genetic basis of cancer of the kidney. J Urol 170:2163-2172
3. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B 2003 Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73:95-106
4. Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP, Houlston RS 2001 Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet 68:1264-1269
5. Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA 2001 Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 159:825-829
6. Lehtonen R, Kiuru M, Vanharanta S, Sjoberg J, Aaltonen LM, Aittomaki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Jarvinen H, Koivisto P, Mecklin JP, Peltomaki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA 2004 Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol 164:17-22
7. Barker KT, Bevan S, Wang R, Lu YJ, Flanagan AM, Bridge JA, Fisher C, Finlayson CJ, Shipley J, Houlston RS 2002 Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer 87:446-448
8. Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA 2002 Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res 62:4554-4557
9. Papanicolaou DA, Yanovski JA, Cutler Jr GB, Chrousos GP, Nieman LK 1998 A single midnight serum cortisol measurement distinguishes Cushing's syndrome from pseudo-Cushing states. J Clin Endocrinol Metab 83:1163-1167
10. Doppman JL, Chrousos GP, Papanicolaou DA, Stratakis CA, Alexander HR, Nieman LK 2000 Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. Radiology 216:797-802
11. Stratakis CA, Sarlis N, Kirschner LS, Carney JA, Doppman JL, Nieman LK, Chrousos GP, Papanicolaou DA 1999 Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 131:585-591
12. Lacroix A, Ndiaye N, Tremblay J, Hamet P 2001 Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome. Endocr Rev 22:75-110
13. Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA 2003 Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer Res 63:5308-5319
14. Gunther DF, Bourdeau I, Matyakhina L, Cassarino D, Kleiner DE, Griffin K, Courkoutsakis N, Abu-Asab M, Tsokos M, Keil M, Carney JA, Stratakis CA 2004 Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? J Clin Endocrinol Metab 89:3173-3182
15. Courcoutsakis NA, Patronas NJ, Cassarino D, Griffin K, Keil M, Ross JL, Carney JA, Stratakis CA 2004 Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changes. J Clin Endocrinol Metab 89:3737-3738
16. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA 2000 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet 26:89-92
17. Ravichandran R, Lafferty F, McGinniss MJ, Taylor HC 1996 Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 81:1776-1779
18. Skogseid B, Larsson C, Lindgren PG, Kvanta E, Rastad J, Theodorsson E, Wide L, Wilander E, Oberg K 1992 Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 75:76-81
19. Burgess JR, Harle RA, Tucker P, Parameswaran V, Davies P, Greenaway TM, Shepherd JJ 1996 Adrenal lesions in a large kindred with multiple endocrine neoplasia type 1. Arch Surg 131:699-702
20. Barzon L, Pasquali C, Grigoletto C, Pedrazzoli S, Boscaro M, Fallo F 2001 Multiple endocrine neoplasia type 1 and adrenal lesions. J Urol 166:24-27
21. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695
22. Kirk JM, Brain CE, Carson DJ, Hyde JC, Grant DB 1999 Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr 134:789-792
23. Mantovani G, Bondioni S, Lania AG, Corbetta S, de Sanctis L, Cappa M, Di Battista E, Chanson P, Beck-Peccoz P, Spada A 2004 Parental origin of Gsα mutations in the McCune-Albright syndrome and in isolated endocrine tumors. J Clin Endocrinol Metab 89:3007-3009
24. Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, Verellen-Dumoulin C 1999 Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3′ APC mutation. J Med Genet 36:65-67
25. Blaker H, Sutter C, Kadmon M, Otto HF, Von Knebel-Doeberitz M, Gebert J, Helmke BM 2004 Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 41:93-98
26. Stratakis CA 2002 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). Ann NY Acad Sci 968:3-21
27. Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB 2003 Cushing's syndrome secondary to adrenocorticotropin- independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab 88:2147-2151
28. Stratakis CA 2003 Genetics of adrenocortical tumors: gatekeepers, landscapers and conductors in symphony. Trends Endocrinol Metab 14:404-410
29. Kirschner MA, Powell Jr RD, Lipsett MB 1964 Cushing's syndrome: nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumor. J Clin Endocrinol Metab 24:947-955
30. Sippel RS, Chen H 2004 Subclinical Cushing's syndrome in adrenal incidentalomas. Surg Clin North Am 84:875-885
31. Bourdeau I, Stratakis CA 2002 Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease. Ann NY Acad Sci 968:240-255
32. Groussin L, Perlemoine K, Contesse V, Lefebvre H, Tabarin A, Thieblot P, Schlienger JL, Luton JP, Bertagna X, Bertherat J 2002 The ectopic expression of the gastric inhibitory peptide (GIP) receptor is frequent in ACTH-independent macronodular adrenal hyperplasia but rare in benign adrenal adenomas. J Clin Endocrinol Metab 87:1980-1985
33. Bourdeau I, Antonini SR, Lacroix A, Kirschner LS, Matyakhina L, Lorang D, Libutti SK, Stratakis CA 2004 Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators. Oncogene 23:1575-1585
34. Nelson JS 1973 The quantitative histochemistry of the sympathoadrenal system. II. Enzymes of the citric acid, pentose phosphate and glycogenolytic pathways. J Histochem Cytochem 21:483-487
35. Selak MA, Armour SM, Mackenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E 2005 Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase. Cancer Cell 7:77-85
36. Kodama T, Shimizu N, Yoshikawa N, Makino Y, Ouchida R, Okamoto K, Hisada T, Nakamura H, Morimoto C, Tanaka H 2003 Role of the glucocorticoid receptor for regulation of hypoxia-dependent gene expression. J Biol Chem 278:33384-33391
37. LeCouter J, Kowalski J, Foster J, Hass P, Zhang Z, Dillard-Telm L, Frantz G, Rangell L, DeGuzman L, Keller GA, Peale F, Gurney A, Hillan KJ, Ferrara N 2001 Identification of an angiogenic mitogen selective for endocrine gland endothelium. Nature 412:877-884
38. McGrath JA 2003 Biologic lessons from mutations in the Krebs cycle enzyme, fumarate hydratase. J Invest Dermatol 121:vii
39. Thompson GB, Young Jr WF 2003 Adrenal incidentaloma. Curr Opin Oncol 15:84-90
40. Libe R, Dall'Asta C, Barbetta L, Baccarelli A, Beck-Peccoz P, Ambrosi B 2002 Long-term follow-up study of patients with adrenal incidentalomas. Eur J Endocrinol 147:489-494
41. Hadjidakis D, Tsagarakis S, Roboti C, Sfakianakis M, Iconomidou V, Raptis SA, Thalassinos N 2003 Does subclinical hypercortisolism adversely affect the bone mineral density of patients with adrenal incidentalomas? Clin Endocrinol (Oxf) 58:72-77
42. Bernini G, Moretti A, Iacconi P, Miccoli P, Nami R, Lucani B, Salvetti A 2003 Anthropometric, haemodynamic, humoral and hormonal evaluation in patients with incidental adrenocortical adenomas before and after surgery. Eur J Endocrinol 148:213-219
43. Grumbach MM, Biller BM, Braunstein GD, Campbell KK, Carney JA, Godley PA, Harris EL, Lee JK, Oertel YC, Posner MC, Schlechte JA, Wieand HS 2003 NIH Consensus Conference: management of the clinically inapparent adrenal mass ("incidentaloma"). Ann Intern Med 138:424-429
44. Dluhy RG, Maher MM, Wu CL 2005 Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-2005. A 59-year-old woman with an incidentally discovered adrenal nodule. N Engl J Med 352:1025-1032