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Overview of Genetic Syndromes Associated with Adrenocortical Cancer

  • Tobias Else
Chapter

Abstract

The volume of literature on the association of benign and malignant adrenocortical neoplasms with genetic syndromes is overwhelming. However, inherent problems arise when attempting to determine the specificity of these associations. On one hand, it is difficult to establish a clear link between the common benign adrenocortical adenomas and the rare congenital syndromes, and one must exercise caution when interpreting these observations. An exception, of course, is the case in which a specific phenotype of functional hormone-secreting lesions is observed. For example, diagnosis may be easier with rare syndromes, such as McCune-Albright syndrome, or with a specific diagnostic response to a diagnostic test as in Carney complex (i.e., the paradox of increased cortisol secretion after dexamethasone application).

Keywords

Familial Adenomatous Polyposis Lynch Syndrome Adrenal Lesion Familial Adenomatous Polyposis Patient Adrenocortical Tumor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Bilimoria KY (2008) Adrenocortical carcinoma in the United States: treatment utilization and prognostic factors. Cancer 113(11):3130–3136CrossRefPubMedGoogle Scholar
  2. 2.
    Agarwal SK (2004) Molecular pathology of the MEN1 gene. Ann N Y Acad Sci 1014:189–198CrossRefPubMedGoogle Scholar
  3. 3.
    Gardner D (2007) Multiple endocrine neoplasia. In: Gardner D (ed) Greenspan’s basic and clinical endocrinology, D.a.S. McGraw-Hill: New YorkGoogle Scholar
  4. 4.
    Langer P (2002) Adrenal involvement in multiple endocrine neoplasia type 1. World J Surg 26(8):891–896CrossRefPubMedGoogle Scholar
  5. 5.
    Waldmann J (2007) Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening. Langenbecks Arch Surg 392(4):437–443CrossRefPubMedGoogle Scholar
  6. 6.
    Skogseid B (1992) Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 75(1):76–81CrossRefPubMedGoogle Scholar
  7. 7.
    Skogseid B (1995) Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118(6):1077–1082CrossRefPubMedGoogle Scholar
  8. 8.
    Wermer P (1954) Genetic aspects of adenomatosis of endocrine glands. Am J Med 16(3):363–371CrossRefPubMedGoogle Scholar
  9. 9.
    Fraumeni JF Jr, Miller RW (1967) Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders. J Pediatr 70(1):129–138CrossRefPubMedGoogle Scholar
  10. 10.
    Li FP , Fraumeni JF Jr (1969) Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71(4):747–752PubMedGoogle Scholar
  11. 11.
    Birch JM (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54(5):1298–1304PubMedGoogle Scholar
  12. 12.
    Chompret A (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38(1):43–47CrossRefPubMedGoogle Scholar
  13. 13.
    Chompret A (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82(12):1932–1937CrossRefPubMedGoogle Scholar
  14. 14.
    Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surv 25:101–124PubMedGoogle Scholar
  15. 15.
    Gonzalez KD (2009) Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27(8):1250–1256CrossRefPubMedGoogle Scholar
  16. 16.
    Li FP (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358–5362PubMedGoogle Scholar
  17. 17.
    Lapunzina P (2005) Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet 137C(1):53–71CrossRefPubMedGoogle Scholar
  18. 18.
    Hoyme HE (1998) Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 79(4):274–278CrossRefPubMedGoogle Scholar
  19. 19.
    Olivier M (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63(20):6643–6650PubMedGoogle Scholar
  20. 20.
    Tan TY, Amor DJ (2006) Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health, 2006. 42(9):486–490CrossRefGoogle Scholar
  21. 21.
    Sorensen SA et al (1986) Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med 314(16):1010–1015CrossRefPubMedGoogle Scholar
  22. 22.
    Wagner AS et al (2005) Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. J Neurooncol 75(2):127–133CrossRefPubMedGoogle Scholar
  23. 23.
    Marshall WH et al (1967) Gardner’s syndrome with adrenal carcinoma. Australas Ann Med 16(3):242–244PubMedGoogle Scholar
  24. 24.
    Painter TA, Jagelman DG (1985), Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum. Cancer 55(9):2001–2004CrossRefPubMedGoogle Scholar
  25. 25.
    Seki M (1992) Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis. Hum Genet 89(3):298–300CrossRefPubMedGoogle Scholar
  26. 26.
    Traill Z et al (1995) Adrenal carcinoma in a patient with Gardner’s syndrome: imaging findings. AJR Am J Roentgenol 165(6):1460–1461PubMedGoogle Scholar
  27. 27.
    Wakatsuki S (1998) Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features. Hum Pathol 29(3):302–306CrossRefPubMedGoogle Scholar
  28. 28.
    Broaddus RR (2004) Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome. Mod Pathol 17(8):981–989CrossRefPubMedGoogle Scholar
  29. 29.
    Berends MJ (2000) Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation? Hum Pathol 31(12):1522–1527CrossRefPubMedGoogle Scholar
  30. 30.
    Takazawa R (2004) Unusual double primary neoplasia: adrenocortical and ureteral carcinomas in Werner syndrome. Urol Int 72(2):168–170CrossRefPubMedGoogle Scholar
  31. 31.
    Varan A (2000) Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol 35(1):88–90CrossRefPubMedGoogle Scholar
  32. 32.
    Beckwith J (1963) Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: Another syndrome? Western Society for Pediatric Research, Los Angeles, CAGoogle Scholar
  33. 33.
    Beckwith JB (1955) Vignettes from the history of overgrowth and related syndromes. Am J Med Genet 79(4):238–248CrossRefGoogle Scholar
  34. 34.
    Beatty EC Jr, Hawes CR (1955) Cytomegaly of the adrenal gland. AMA Am J Dis Child 89(4):463–467PubMedGoogle Scholar
  35. 35.
    Wiedemann H (1983) Tumours and Hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129CrossRefGoogle Scholar
  36. 36.
    DeBaun MR (2002) Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 70(3):604–611CrossRefPubMedGoogle Scholar
  37. 37.
    Figueiredo BC (2006) Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet 43(1):91–96CrossRefPubMedGoogle Scholar
  38. 38.
    Weksberg R et al (2005) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137C(1):12–23CrossRefPubMedGoogle Scholar
  39. 39.
    Giordano TJ (2009) Molecular classification and prognostication of adrenocortical tumors by transcriptome profiling. Clin Cancer Res 15(2):668–676CrossRefPubMedGoogle Scholar
  40. 40.
    Giordano TJ (2003) Distinct transcriptional profiles of adrenocortical tumors uncovered by DNA microarray analysis. Am J Pathol 162(2):521–531PubMedGoogle Scholar
  41. 41.
    Malkin D (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250(4985):1233–1238CrossRefPubMedGoogle Scholar
  42. 42.
    Zambetti GP (2007) The p53 mutation “gradient effect” and its clinical implications. J Cell Physiol 213(2):370–373CrossRefPubMedGoogle Scholar
  43. 43.
    Bell DW (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286(5449):2528–2531CrossRefPubMedGoogle Scholar
  44. 44.
    Barzon L (2001) Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors. Eur J Endocrinol 145(2):207–212CrossRefPubMedGoogle Scholar
  45. 45.
    Reincke M (1994) p53 mutations in human adrenocortical neoplasms: immunohistochemical and molecular studies. J Clin Endocrinol Metab 78(3):790–794CrossRefPubMedGoogle Scholar
  46. 46.
    Reincke M (1996) p53 mutations in adrenal tumors: Caucasian patients do not show the exon 4 “hot spot” found in Taiwan. J Clin Endocrinol Metab 81(10):3636–3638CrossRefPubMedGoogle Scholar
  47. 47.
    Gardner EJ (1951) A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet 3(2):167–176PubMedGoogle Scholar
  48. 48.
    Turcot J et al (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2:465–468CrossRefPubMedGoogle Scholar
  49. 49.
    Vasen HF (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57(5):704–713CrossRefPubMedGoogle Scholar
  50. 50.
    Marchesa P (1997) Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 40(9):1023–1028CrossRefPubMedGoogle Scholar
  51. 51.
    Smith TG (2000) Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum 43(12):1739–1742CrossRefPubMedGoogle Scholar
  52. 52.
    Alexander GL et al (2000) Primary aldosteronism in a patient with familial adenomatous polyposis. Mayo Clin Proc 75(6):636–637CrossRefPubMedGoogle Scholar
  53. 53.
    Beuschlein F (2000) Cortisol producing adrenal adenoma--a new manifestation of Gardner’s syndrome. Endocr Res 26(4):783–790CrossRefPubMedGoogle Scholar
  54. 54.
    Arvanitis ML (1990) Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 33(8):639–642CrossRefPubMedGoogle Scholar
  55. 55.
    Blaker H (2004) Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 41(2):93–98CrossRefPubMedGoogle Scholar
  56. 56.
    Hosogi H (2009) Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the apc gene: report of a case. Jpn J Clin Oncol 39(12):837–846Google Scholar
  57. 57.
    Offit K (1998) Clinical cancer genetics. 1st ed. 1998, New York: Wiley-Liss. 125–148Google Scholar
  58. 58.
    Tissier F (2005) Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res 65(17):7622–7627PubMedGoogle Scholar
  59. 59.
    Schussheim DH (2001) Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab 12(4):173–178CrossRefPubMedGoogle Scholar
  60. 60.
    Chandrasekharappa SC (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276(5311):404–407CrossRefPubMedGoogle Scholar
  61. 61.
    Crabtree JS (2001) A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A 98(3):1118–1123CrossRefPubMedGoogle Scholar
  62. 62.
    Gibril F (2004) Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature. Medicine (Baltimore) 83(1):43–83CrossRefGoogle Scholar
  63. 63.
    Beckers A (1992) Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. J Clin Endocrinol Metab 75(2):564–570CrossRefPubMedGoogle Scholar
  64. 64.
    Trump D (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Qjm 89(9):653–669PubMedGoogle Scholar
  65. 65.
    Lindor NM (2008) Concise handbook of familial cancer susceptibility syndromes – second edition. J Natl Cancer Inst Monogr, 2008(38):1–93CrossRefGoogle Scholar
  66. 66.
    Schulte KM (2000) Complete sequencing and messenger ribonucleic acid expression analysis of the MEN I gene in adrenal cancer. J Clin Endocrinol Metab 85(1):441–448CrossRefPubMedGoogle Scholar
  67. 67.
    Schulte KM (1999) MEN I gene mutations in sporadic adrenal adenomas. Hum Genet 105(6):603–610CrossRefPubMedGoogle Scholar
  68. 68.
    Vortmeyer AO (1999) Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Mod Pathol 12(9):919–924PubMedGoogle Scholar
  69. 69.
    Gortz B (1999) MEN1 gene mutation analysis of sporadic adrenocortical lesions. Int J Cancer 80(3):373–379CrossRefPubMedGoogle Scholar
  70. 70.
    Karagiannis A (2007) Pheochromocytoma: an update on genetics and management. Endocr Relat Cancer 14(4):935–956CrossRefPubMedGoogle Scholar
  71. 71.
    Bausch B (2006) Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. J Clin Endocrinol Metab 91(9):3478–3481CrossRefPubMedGoogle Scholar
  72. 72.
    Rasmussen SA, Friedman JM (2000) NF1 gene and neurofibromatosis 1. Am J Epidemiol 151(1):33–40PubMedGoogle Scholar
  73. 73.
    Brandi ML (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86(12):5658–5671CrossRefPubMedGoogle Scholar
  74. 74.
    Elliott M (1994) Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 46(2):168–174CrossRefPubMedGoogle Scholar
  75. 75.
    Ferner RE (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44(2):81–88CrossRefPubMedGoogle Scholar
  76. 76.
    Clericuzio CL, Martin RA (2009) Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med 11(3):220–222CrossRefPubMedGoogle Scholar
  77. 77.
    Ferrandez A (2006) An evidence-based, multidisciplinary approach to the clinical considerations, management, and surveillance of adrenal lesions in familial adenomatous polyposis: report of three cases. Dis Colon Rectum 49(11):1781–1790CrossRefPubMedGoogle Scholar
  78. 78.
    Nielsen M (2007) Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 71(5):427–433CrossRefPubMedGoogle Scholar
  79. 79.
    Gardner EJ, Richards RC (1953) Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 5(2):139–147Google Scholar
  80. 80.
    Fienman NL, Yakovac WC (1970) Neurofibromatosis in childhood. J Pediatr 76(3):339–346.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Department of Internal Medicine – Division of Metabolism, Endocrinology & DiabetesUniversity of Michigan Health System, University of MichiganAnn ArborUSA

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