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Diagnosis and Management of Hereditary Adrenal Cancer

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Rare Hereditary Cancers

Part of the book series: Recent Results in Cancer Research ((RECENTCANCER,volume 205))

Abstract

Benign adrenocortical tumours (ACT) are relatively frequent lesions; on the contrary, adrenocortical carcinoma (ACC) is a rare and aggressive malignancy with unfavourable prognosis. Recent advances in the molecular understanding of adrenal cancer offer promise for better therapies in the future. Many of these advances stem from the molecular elucidation of genetic conditions predisposing to the development of ACC. Six main clinical syndromes have been described to be associated with hereditary adrenal cancer. In these conditions, genetic counselling plays an important role for the early detection and follow-up of the patients and the affected family members.

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References

  • Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA (2012) 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 97:351–359

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Arlt W, Biehl M, Taylor AE, Hahner S, Libe R, Hughes BA, Schneider P, Smith DJ, Stiekema H, Krone N, Porfiri E, Opocher G, Bertherat J, Mantero F, Allolio B, Terzolo M, Nightingale P, Shackleton CH, Bertagna X, Fassnacht M, Stewart PM (2011) Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors. J Clin Endocrinol Metab 96:3775–3784

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Arnaldi G, Boscaro M (2012) Adrenal incidentaloma. Best Pract Res Clin Endocrinol Metab 26:405–419

    Article  CAS  PubMed  Google Scholar 

  • Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R (2005) Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 65:427–431

    CAS  PubMed  Google Scholar 

  • Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, Rene-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA (2009) 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 94:2085–2091

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones, PH, Binchy A, Crowther D and et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54, 1298–304

    Google Scholar 

  • Bliek J, Verde G, Callaway J, Maas SM, de Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611–619

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Boikos SA, Stratakis CA (2006) Carney complex: pathology and molecular genetics. Neuroendocrinology 83:189–199

    Article  CAS  PubMed  Google Scholar 

  • Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA (2004) Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer 11:265–280

    Article  CAS  PubMed  Google Scholar 

  • Bougeard G, Sesboue R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugieres L, Chompret A, De Paillerets BB, Stoppa-Lyonnet D, Bonaiti-Pellie C, Frebourg T, French LFSWG (2008) Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 45(8), 535–538, England

    Google Scholar 

  • Boulle N, Baudin E, Gicquel C, Logie A, Bertherat J, Penfornis A, Bertagna X, Luton JP, Schlumberger M, le Bouc Y (2001) Evaluation of plasma insulin-like growth factor binding protein-2 as a marker for adrenocortical tumors. Eur J Endocrinol 144:29–36

    Article  CAS  PubMed  Google Scholar 

  • Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frebourg T, Lemerle J, Bonaiti-Pellie C, Feunteun J (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer, 82:1932–1937

    Google Scholar 

  • Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43–47

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surv 25:101–124

    CAS  PubMed  Google Scholar 

  • Elliott M, Bayly R, Cole T, Temple IK, Maher ER (1994) Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 46:168–174

    Article  CAS  PubMed  Google Scholar 

  • Else T, Kim AC, Sabolch A, Raymond VM, Kandathil A, Caoili EM, Jolly S, Miller BS, Giordano TJ, Hammer GD (2014) Adrenocortical carcinoma. Endocr Rev 35:282–326

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Enklaar T, Zabel BU, Prawitt D (2006) Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 8:1–19

    Article  PubMed  Google Scholar 

  • Evans DG, Lunt P, Clancy T, Eeles R (2010) Childhood predictive genetic testing for Li-Fraumeni syndrome. Fam Cancer 9:65–69

    Article  CAS  PubMed  Google Scholar 

  • Fassnacht M, Allolio B (2009) Clinical management of adrenocortical carcinoma. Best Pract Res Clin Endocrinol Metab 23:273–289

    Article  CAS  PubMed  Google Scholar 

  • Fernandez-Cuesta L, Oakman C, Falagan-Lotsch P, Smoth KS, Quinaux E, Buyse M, Dolci MS, Azambuja ED, Hainaut P, Dell’Orto P, Larsimont D, Francis PA, Crown J, Piccart-Gebhart M, Viale G, Leo AD, Olivier M (2012) Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial. Breast Cancer Res 14:R70

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81–88

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fienman NL, Yakovac WC (1970) Neurofibromatosis in childhood. J Pediatr 76:339–346

    Article  CAS  PubMed  Google Scholar 

  • Fraumeni JF Jr., Miller RW (1967) Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders. J Pediatr 70:129–38

    Google Scholar 

  • Gatta-Cherifi B, Chabre O, Murat A, Niccoli P, Cardot-Bauters C, Rohmer V, Young J, Delemer B, du Boullay H, Verger MF, Kuhn JM, Sadoul JL, Ruszniewski P, Beckers A, Monsaingeon M, Baudin E, Goudet P, Tabarin A (2012) Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d’etude des Tumeurs Endocrines database. Eur J Endocrinol 166:269–279

    Article  CAS  PubMed  Google Scholar 

  • Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, Netto CB, Cossio SL, Roth DE, Brunetto AL, Zagonel-Oliveira M, Martel-Planche G, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P (2013) Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. Cancer 119:4341–4349

    Article  CAS  PubMed  Google Scholar 

  • Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN (2009) Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27:1250–1256

    Article  CAS  PubMed  Google Scholar 

  • Gutmann DH, Cole JL, Stone WJ, Ponder BA, Collins FS (1994) Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes Chromosomes Cancer 10:55–58

    Article  CAS  PubMed  Google Scholar 

  • Hatada I, Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, Niikawa N, Inoue M, Komoto Y, Okada A, Steichen E, Ohashi H, Fukushima Y, Nakayama M, Mukai T (1997) New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 100:681–683

    Article  CAS  PubMed  Google Scholar 

  • Herrmann LJ, Heinze B, Fassnacht M, Willenberg HS, Quinkler M, Reisch N, Zink M, Allolio B, Hahner S (2012) TP53 germline mutations in adult patients with adrenocortical carcinoma. J Clin Endocrinol Metab 97:E476–E485

    Article  CAS  PubMed  Google Scholar 

  • Hollstein M, Sidransky D, Vogelstein B, Harris CC (1991) p53 mutations in human cancers. Science 253:49–53

    Article  CAS  PubMed  Google Scholar 

  • Icard P, Goudet P, Charpenay C, Andreassian B, Carnaille B, Chapuis Y, Cougard P, Henry JF, Proye C (2001) Adrenocortical carcinomas: surgical trends and results of a 253-patient series from the French Association of Endocrine Surgeons study group. World J Surg 25:891–897

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Berg C, Dufke A, Geipel A, Hoopmann M, Abele H (2015) Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn 35(4):394–399

    Google Scholar 

  • Karamurzin Y, Zeng Z, Stadler ZK, Zhang L, Ouansafi I, Al-Ahmadie HA, Sempoux C, Saltz LB, Soslow RA, O’Reilly EM, Paty PB, Coit DG, Shia J, Klimstra DS (2012) Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature. Hum Pathol 43:1677–1687

    Article  CAS  PubMed  Google Scholar 

  • Karim R, Tse G, Putti T, Scolyer R, Lee S (2004) The significance of the Wnt pathway in the pathology of human cancers. Pathology 36:120–128

    Article  CAS  PubMed  Google Scholar 

  • Lemos MC, Thakker RV (2008) Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29:22–32

    Article  CAS  PubMed  Google Scholar 

  • Lerario AM, Moraitis A, Hammer GD (2014) Genetics and epigenetics of adrenocortical tumors. Mol Cell Endocrinol 386:67–84

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362

    Google Scholar 

  • Libe R, Groussin L, Tissier F, Elie C, Rene-Corail F, Fratticci A, Jullian E, Beck-Peccoz P, Bertagna X, Gicquel C, Bertherat J (2007) Somatic TP53 mutations are relatively rare among adrenocortical cancers with the frequent 17p13 loss of heterozygosity. Clin Cancer Res 13:844–850

    Article  CAS  PubMed  Google Scholar 

  • Liu Y, Chew MH, Goh XW, Tan SY, Loi CT, Tan YM, Law HY, Koh PK, Tang CL (2014) Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore. PLoS ONE 9:e94170

    Article  PubMed  PubMed Central  Google Scholar 

  • Malkin D, LI FP, Strong LC, Fraumeni JF, Jr., Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238

    Google Scholar 

  • Marini F, Falchetti A, Luzi E, Tonelli F, Maria Luisa B (2009) Multiple endocrine neoplasia type 1 (MEN1) Syndrome. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M (eds) Cancer syndromes. Bethesda (MD), National Center for Biotechnology Information (US)

    Google Scholar 

  • Mazzuco TL, Durand J, Chapman A, Crespigio J, Bourdeau I (2012) Genetic aspects of adrenocortical tumours and hyperplasias. Clin Endocrinol (Oxf) 77:1–10

    Article  CAS  Google Scholar 

  • Menon RK, Ferrau F, Kurzawinski TR, Rumsby G, Freeman A, Amin Z, Korbonits M, Chung TT (2014) Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis. Endocrinol Diabetes Metab Case Rep 2014:140074

    PubMed  PubMed Central  Google Scholar 

  • Morin E, Mete O, Wasserman JD, Joshua AM, Asa SL, Ezzat S (2012) Carney complex with adrenal cortical carcinoma. J Clin Endocrinol Metab 97:E202–E206

    Article  CAS  PubMed  Google Scholar 

  • Newey PJ, Thakker RV (2011) Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. Endocr Pract 17(Suppl 3):8–17

    Article  PubMed  Google Scholar 

  • Niemitz EL, Debaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP (2004) Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 75:844–849

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ohgaki H, Kleihues P, Heitz PU (1993) p53 mutations in sporadic adrenocortical tumors. Int J Cancer 54:408–410

    Article  CAS  PubMed  Google Scholar 

  • Ohta A, Schumacher FR, Mehellou Y, Johnson C, Knebel A, Macartney TJ, Wood NT, Alessi DR, Kurz T (2013) The CUL3-KLHL3 E3 ligase complex mutated in Gordon’s hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J 451:111–122

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643–6650

    CAS  PubMed  Google Scholar 

  • Olivier M, Langerod A, Carrieri P, Bergh J, Klaar S, Eyfjord J, Theillet C, Rodriguez C, Lidereau R, Bieche I, Varley J, Bignon Y, Uhrhammer N, Winqvist R, Jukkola-Vuorinen A, Niederacher D, Kato S, Ishioka C, Hainaut P, Borresen-Dale AL (2006) The clinical value of somatic TP53 gene mutations in 1794 patients with breast cancer. Clin Cancer Res 12:1157–1167

    Article  CAS  PubMed  Google Scholar 

  • Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P (2010) Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. Curr Opin Oncol 22:64–69

    Article  CAS  PubMed  Google Scholar 

  • Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622–629

    Article  CAS  PubMed  Google Scholar 

  • Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Lausch E, Reutzel D, Fees S, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B (2005) Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms’ tumor. Nat Genet, United States

    Google Scholar 

  • Raymond VM, Else T, Everett JN, Long JM, Gruber SB, Hammer GD (2013a) Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. J Clin Endocrinol Metab 98:E119–E125

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Raymond VM, Everett JN, Furtado LV, Gustafson SL, Jungbluth CR, Gruber SB, Hammer GD, Stoffel EM, Greenson JK, Giordano TJ, Else T (2013b) Adrenocortical carcinoma is a lynch syndrome-associated cancer. J Clin Oncol 31:3012–3018

    Article  PubMed  PubMed Central  Google Scholar 

  • Rodriguez FJ, Stratakis CA, Evans DG (2012) Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. Acta Neuropathol 123:349–367

    Article  PubMed  PubMed Central  Google Scholar 

  • Rump P, Zeegers MP, van Essen AJ (2005) Tumor risk in Beckwith-Wiedemann syndrome: a review and meta-analysis. Am J Med Genet A 136:95–104

    Article  CAS  PubMed  Google Scholar 

  • Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA (2014) Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab 99:E183–E188

    Article  PubMed  PubMed Central  Google Scholar 

  • Schaefer S, Shipotko M, Meyer S, Ivan D, Klose KJ, Waldmann J, Langer P, Kann PH (2008) Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. Eur J Endocrinol 158:699–704

    Article  CAS  PubMed  Google Scholar 

  • Shuman C, Beckwith JB, Smith AC, Weksberg R (1993) Beckwith-Wiedemann Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews(R). Seattle (WA), University of Washington, Seattle. All rights reserved

    Google Scholar 

  • Sirianni R, Zolea F, Chimento A, Ruggiero C, Cerquetti L, Fallo F, Pilon C, Arnaldi G, Carpinelli G, Stigliano A, Pezzi V (2012) Targeting estrogen receptor-alpha reduces adrenocortical cancer (ACC) cell growth in vitro and in vivo: potential therapeutic role of selective estrogen receptor modulators (SERMs) for ACC treatment. J Clin Endocrinol Metab 97:E2238–E2250

    Article  CAS  PubMed  Google Scholar 

  • Sorensen SA, Mulvihill JJ, Nielsen A (1986) Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med 314:1010–1015

    Article  CAS  PubMed  Google Scholar 

  • Sorrell AD, Espenschied CR, Culver JO, Weitzel JN (2013) Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome: current status of clinical applications and future directions. Mol Diagn Ther 17:31–47

    Article  PubMed  PubMed Central  Google Scholar 

  • Stoffel EM, Mangu PB, Gruber SB, Hamilton SR, Kalady MF, Lau MW, Lu KH, Roach N, Limburg PJ (2015) Hereditary colorectal cancer syndromes: American society of clinical oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European society for medical oncology clinical practice guidelines. J Clin Oncol 33:209–217

    Article  PubMed  Google Scholar 

  • Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041–4046

    Article  CAS  PubMed  Google Scholar 

  • Tabori U, Baskin B, Shago M, Alon N, Taylor MD, Ray PN, Bouffet E, Malkin D, Hawkins C (2010) Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. J Clin Oncol 28:1345–1350

    Article  CAS  PubMed  Google Scholar 

  • Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97:2990–3011

    Article  CAS  PubMed  Google Scholar 

  • Tham E, Grandell U, Lindgren E, Toss G, Skogseid B, Nordenskjold M (2007) Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. J Clin Endocrinol Metab 92:3389–3395

    Article  CAS  PubMed  Google Scholar 

  • Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T (2009) Version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27(26):e108–e109, United States

    Google Scholar 

  • Varley JM, McGown G, Thorncroft M, James LA, Margison GP, Forster G, Evans DG, Harris M, Kelsey AM, Birch JM (1999) Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. Am J Hum Genet 65:995–1006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wagner AS, Fleitz JM, Kleinschmidt-Demasters BK (2005) Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. J Neurooncol 75:127–133

    Article  PubMed  Google Scholar 

  • Weksberg R, Shuman C, Beckwith JB (2010) Beckwith-Wiedemann syndrome. Eur J Hum Genet 18:8–14

    Article  PubMed  PubMed Central  Google Scholar 

  • Weksberg R, Smith AC, Squire J, Sadowski P (2003) Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12 Spec No 1:R61–8

    Google Scholar 

  • Weksberg R, Shuman C, Smith AC (2005) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137c:12–23

    Google Scholar 

  • Wu X, Hua X (2008) Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective. Curr Mol Med 8:805–815

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

    Anna Angelousi, Mihail Zilbermint, Annabel Berthon, Stéphanie Espiard & Constantine A. Stratakis

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  1. Anna Angelousi
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  2. Mihail Zilbermint
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  3. Annabel Berthon
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  4. Stéphanie Espiard
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  5. Constantine A. Stratakis
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Correspondence to Anna Angelousi or Constantine A. Stratakis .

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  1. London Bridge Hospital, London, United Kingdom

    Gabriella Pichert

  2. University College London, Guy’s & St Thomas’ NHS Foundation Trust, London, United Kingdom

    Chris Jacobs

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Angelousi, A., Zilbermint, M., Berthon, A., Espiard, S., Stratakis, C.A. (2016). Diagnosis and Management of Hereditary Adrenal Cancer. In: Pichert, G., Jacobs, C. (eds) Rare Hereditary Cancers. Recent Results in Cancer Research, vol 205. Springer, Cham. https://doi.org/10.1007/978-3-319-29998-3_8

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