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Hereditary Syndromes and Abdominal Neuroendocrine Tumors

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Abdominal Neuroendocrine Tumors

Part of the book series: Updates in Surgery ((UPDATESSURG))

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References

  1. Saggini A, Brandi ML (2011) Skin lesions in hereditary endocrine tumor syndromes. Endocr Pract 17 Suppl 3:47–57

    Article  Google Scholar 

  2. Turner JJ, Christie PT, Pearce SH et al (2010) Diagnostic challenges due to phenocopies: lessons from multiple endocrine neoplasia type1 (MEN1). Hum Mutat 31(1):E1089–1101

    Article  PubMed  Google Scholar 

  3. Kouvaraki MA, Shapiro SE, Cote GJ et al (2006) Management of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. World J Surg 30(5):643–653

    Article  PubMed  Google Scholar 

  4. Triponez F, Goudet P, Dosseh D et al; French Endocrine Tumor Study Group (2006) Is surgery beneficial for MEN1 patients with small (< or = 2 cm), nonfunctioning pancreaticoduodenal endocrine tumor? An analysis of 65 patients from the GTE. World J Surg 30(5):654–662; discussion 663–664

    Google Scholar 

  5. Rindi G, Falconi M, Klersy C et al (2012) TNM staging of neoplasms of the endocrine pancreas: results from a large international cohort study. J Natl Cancer Inst 104(10):764–777

    Article  CAS  PubMed  Google Scholar 

  6. Scarpa A, Mantovani W, Capelli P et al (2010) Pancreatic endocrine tumors: improved TNM staging and histopathological grading permit a clinically efficient prognostic stratification of patients. Mod Pathol 23(6):824–833

    Article  CAS  PubMed  Google Scholar 

  7. Skogseid B, Larsson C, Lindgren PG et al (1992) Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 75(1):76–81

    CAS  PubMed  Google Scholar 

  8. Thakker RV, Newey PJ, Walls GV et al; Endocrine Society (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97(9):2990–3011

    Article  CAS  PubMed  Google Scholar 

  9. Gauger PG, Scheiman JM, Wamsteker EJ et al (2003) Role of endoscopic ultrasonography in screening and treatment of pancreatic endocrine tumours in asymptomatic patients with multiple endocrine neoplasia type 1. Br J Surg 90(6):748–754

    Article  CAS  PubMed  Google Scholar 

  10. Thomas-Marques L, Murat A, Delemer B et al; Groupe des Tumeurs Endocrines (GTE) (2006) Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Am J Gastroenterol 101(2):266–273

    Article  PubMed  Google Scholar 

  11. 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(1):22–32

    Article  CAS  PubMed  Google Scholar 

  12. Concolino P, Costella A, Capoluongo E (2016) Multiple endocrine neoplasia type 1 (MEN1): an update of 208 new germline variants reported in the last nine years. Cancer Genet 209(1–2):36–41

    Article  PubMed  Google Scholar 

  13. Yang Y, Xianxin Hua (2007) In search of tumor suppressing functions of menin. Mol Cell Endocrinol 265–266:34–41

    Article  PubMed  PubMed Central  Google Scholar 

  14. Perren A, Anlauf M, Henopp T et al (2007) Multiple endocrine neoplasia type 1 (MEN1): loss of one MEN1 allele in tumors and monohormonal endocrine cell clusters but not in islet hyperplasia of the pancreas. J Clin Endocrinol Metab 92(3): 1118–1128

    Article  CAS  PubMed  Google Scholar 

  15. Anlauf M, Perren A, Henopp T et al (2007) Allelic deletion of the MEN1 gene in duodenal gastrin and somatostatin cell neoplasms and their precursor lesions. Gut 56(5):637–644

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Debelenko LV, Zhuang Z, Emmert-Buck MR et al (1997) Allelic deletions on chromosome 11q13 in multiple endocrine neoplasia type 1-associated and sporadic gastrinomas and pancreatic endocrine tumors. Cancer Res 57(11):2238–2243

    CAS  PubMed  Google Scholar 

  17. Rinke A, Krug S (2016) Neuroendocrine tumours - Medical therapy: biological. Best Pract Res Clin Endocrinol Metab 30(1):79–91

    Article  CAS  PubMed  Google Scholar 

  18. Ezziddin S, Khalaf F, Vanezi M et al (2014) Outcome of peptide receptor radionuclide therapy with 177Luoctreotate in advanced grade 1/2 pancreatic neuroendocrine tumours. Eur J Nucl Med Mol Imaging. 41(5): 925–933

    Article  CAS  PubMed  Google Scholar 

  19. Yao JC, Shah MH, Ito T et al; RAD001 in Advanced Neuroendocrine Tumors, Third Trial (RADIANT-3) Study Group (2011) Everolimus for advanced pancreatic neuroendocrine tumors. N Engl J Med 364(6):514–523

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Raymond E, Dahan L, Raoul JL et al (2011) Sunitinib malate for the treatment of pancreatic neuroendocrine tumors. N Engl J Med 364(6):501–513

    Article  CAS  PubMed  Google Scholar 

  21. Tonelli F, Fratini G, Nesi, G et al (2006) Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasias. Ann Surg 244(1):61–70

    Article  PubMed  PubMed Central  Google Scholar 

  22. Tonelli F, Giudici F, Giusti F et al (2014) A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome. Eur J Endocrinol 171(2):K7–K17

    Article  CAS  PubMed  Google Scholar 

  23. Georgitsi M, Raitila A, Karhu A et al (2007) Germline CDKNlB/p27Kipl mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 92(8):3321–3325

    Article  CAS  PubMed  Google Scholar 

  24. Francis JM, Kiezun A, Ramos AH et al (2013) Somatic mutation of CDKN1B in small intestine neuroendocrine tumors. Nat Genet 45(12): 1483–1486

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Ferzli PG, Millett CR, Newman MD, Heymann WR (2008) The dermatologist’s guide to hereditary syndromes with renal tumors. Cutis 81(1):41–48

    PubMed  Google Scholar 

  26. McNeill A, Rattenberry E, Barber R et al (2009) Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A 149A(10):2147–2151

    Article  CAS  PubMed  Google Scholar 

  27. Maher ER, Iselius L, Yates JRW et al (1991) Von Hippel-Lindau disease: a genetic study. J Med Genet 28(7):443–447

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Mete O, Asa SL (2013) Precursor lesions of endocrine system neoplasms. Pathology 45(3):316–330

    Article  CAS  PubMed  Google Scholar 

  29. Jensen RT, Berna MJ, Bingham DB, Norton JA (2008) Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer 113(7 Suppl): 1807–1843

    Article  PubMed  PubMed Central  Google Scholar 

  30. Gut P, Komarowska H, Czarnywojtek A et al (2015) Familial syndromes associated with neuroendocrine tumours. Contemp Oncol (Pozn) 19(3): 176–183

    Google Scholar 

  31. Blansfield JA, Choyke L, Morita SY et al (2007) Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery 142(6):814–818; discussion 818.el–2

    Article  PubMed  Google Scholar 

  32. Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355(13): 1345–1356

    Article  CAS  PubMed  Google Scholar 

  33. Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657–668

    Article  CAS  PubMed  Google Scholar 

  34. Dworakowska D, Grossman AB (2009) Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review. Endocr Relat Cancer 16(1):45–58

    Article  CAS  PubMed  Google Scholar 

  35. Kingswood JC, d’Augères GB, Belousova E et al; TOSCA consortium and TOSCA investigators (2017) TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. Orphanet J Rare Dis 12(1):2

    Article  PubMed  PubMed Central  Google Scholar 

  36. Northrup H, Krueger DA (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):243–254

    Article  PubMed  PubMed Central  Google Scholar 

  37. Caban C, Khan N, Hasbani DM, Crino PB (2016) Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet 10:1–8

    Article  PubMed  PubMed Central  Google Scholar 

  38. Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous sclerosis complex. In: Pagon RA, Adam MP, Ardinger HH et al (eds). GeneReviews. University of Washington, Seattle, 1993–2017 https://www.ncbi.nlm.nih.gov/books/NBK1116/

  39. Williams VC, Lucas J, Babcock MA et al (2009) Neurofibromatosis type 1 revisited. Pediatrics 123(1): 124–133

    Article  PubMed  Google Scholar 

  40. Ferner RE, Huson SM, Thomas N et al (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44(2):81–88

    Article  CAS  PubMed  Google Scholar 

  41. Altomare DA, Testa JR (2005) Perturbations of the AKT signaling pathway in human cancer. Oncogene 24(50):7455–7464

    Article  CAS  PubMed  Google Scholar 

  42. Nishi T, Kawabata Y, Hari Y et al (2012) A case of pancreatic neuroendocrine tumor in a patient with neurofibromatosis-1. World J Surg Oncol 10:153

    Article  PubMed  PubMed Central  Google Scholar 

  43. Lucas MB, Yu VE, YU R (2013) Mahvash disease: pancreatic neuroendocrine tumor syndrome caused by inactivating glucagon receptor mutation. J Mol Genet Med 7:84 doi: 10.4172/1747-0862.1000084

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Surgery and Translational Medicine, University of Florence, Florence, Italy

    Maria Luisa Brandi

Authors
  1. Francesco Tonelli
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  2. Francesca Giusti
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  3. Francesca Marini
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  4. Maria Luisa Brandi
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Corresponding author

Correspondence to Maria Luisa Brandi .

Editor information

Editors and Affiliations

  1. Department of Surgery, Division of General Surgery, S. Eugenio Hospital, Rome, Italy

    Massimo Carlini

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Tonelli, F., Giusti, F., Marini, F., Brandi, M.L. (2018). Hereditary Syndromes and Abdominal Neuroendocrine Tumors. In: Carlini, M. (eds) Abdominal Neuroendocrine Tumors. Updates in Surgery. Springer, Milano. https://doi.org/10.1007/978-88-470-3955-1_3

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  • DOI: https://doi.org/10.1007/978-88-470-3955-1_3

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-3954-4

  • Online ISBN: 978-88-470-3955-1

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