open access

Vol 71, No 3 (2020)
Review Article
Published online: 2020-06-30
Submitted: 2020-03-20
Accepted: 2020-03-22
Get Citation

Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease

Agnieszka Zwolak, Joanna Świrska, Ewa Tywanek, Marta Dudzińska, Jerzy S. Tarach, Beata Matyjaszek-Matuszek
DOI: 10.5603/EP.a2020.0027
·
Endokrynologia Polska 2020;71(3):256-259.

open access

Vol 71, No 3 (2020)
Review Article
Published online: 2020-06-30
Submitted: 2020-03-20
Accepted: 2020-03-22

Abstract

Von Hippel-Lindau disease is a highly penetrant autosomal genetic disorder caused by a germline mutation in the tumour suppressor gene, manifesting with the formation of various tumours, including neuroendocrine tumours of the pancreas. The incidence of the latter is not very high, varying from 5% to 18%. To compare, haemangioblastomas and clear cell renal carcinoma are present in 70% of von Hippel-Lindau patients and are considered the main prognostic factors, with renal cancer being the most common cause of death. However, pancreatic neuroendocrine tumours should not be neglected, considering their malignant potential (different to sporadic cases), natural history, and treatment protocol. This paper aims to review the literature on the epidemiology, natural history, treatment, and surveillance of individuals affected by pancreatic neuroendocrine tumours in von Hippel-Lindau disease.

Abstract

Von Hippel-Lindau disease is a highly penetrant autosomal genetic disorder caused by a germline mutation in the tumour suppressor gene, manifesting with the formation of various tumours, including neuroendocrine tumours of the pancreas. The incidence of the latter is not very high, varying from 5% to 18%. To compare, haemangioblastomas and clear cell renal carcinoma are present in 70% of von Hippel-Lindau patients and are considered the main prognostic factors, with renal cancer being the most common cause of death. However, pancreatic neuroendocrine tumours should not be neglected, considering their malignant potential (different to sporadic cases), natural history, and treatment protocol. This paper aims to review the literature on the epidemiology, natural history, treatment, and surveillance of individuals affected by pancreatic neuroendocrine tumours in von Hippel-Lindau disease.

Get Citation

Keywords

pancreatic neuroendocrine tumours; von Hippel-Lindau disease

About this article
Title

Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease

Journal

Endokrynologia Polska

Issue

Vol 71, No 3 (2020)

Pages

256-259

Published online

2020-06-30

DOI

10.5603/EP.a2020.0027

Bibliographic record

Endokrynologia Polska 2020;71(3):256-259.

Keywords

pancreatic neuroendocrine tumours
von Hippel-Lindau disease

Authors

Agnieszka Zwolak
Joanna Świrska
Ewa Tywanek
Marta Dudzińska
Jerzy S. Tarach
Beata Matyjaszek-Matuszek

References (37)
  1. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet. 2003; 361(9374): 2059–2067.
  2. Maher ER, Neumann HPh, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011; 19(6): 617–623.
  3. Blansfield JA, Choyke L, Morita SY, et al. Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery. 2007; 142(6): 814–8; discussion 818.e1.
  4. Cassol C, Mete O. Endocrine manifestations of von Hippel-Lindau disease. Arch Pathol Lab Med. 2015; 139(2): 263–268.
  5. Woodward ER, Maher ER. Von Hippel-Lindau disease and endocrine tumour susceptibility. Endocr Relat Cancer. 2006; 13(2): 415–425.
  6. Binderup ML, Jensen AM, Budtz-Jørgensen E, et al. Survival and causes of death in patients with von Hippel-Lindau disease. J Med Genet. 2017; 54(1): 11–18.
  7. Wilding A, Ingham SL, Lalloo F, et al. Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet. 2012; 49(4): 264–269.
  8. Hammel P, Vilgrain V, Terris B, et al. Pancreatic involvement in von Hippel-Lindau disease. Gastroenterology. 2000; 119(4): 1087–1095.
  9. Hough DM, Stephens DH, Johnson CD, et al. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. AJR Am J Roentgenol. 1994; 162(5): 1091–1094.
  10. Park TY, Lee SK, Park JS, et al. Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. Scand J Gastroenterol. 2015; 50(3): 360–367.
  11. Yamashima M, Ozawa E, Ohnita K, et al. Hepatobiliary and Pancreatic: Pancreatic mixed serous neuroendocrine neoplasm in von Hippel-Lindau disease. J Gastroenterol Hepatol. 2018; 33(11): 1821.
  12. Fill WL, Lamiell JM, Polk NO. The radiographic manifestations of von Hippel-Lindau disease. Radiology. 1979; 133(2): 289–295.
  13. Lamiell JM, Salazar FG, Hsia YE. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore). 1989; 68(1): 1–29.
  14. Charlesworth M, Verbeke CS, Falk GA, et al. Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature. J Gastrointest Surg. 2012; 16(7): 1422–1428.
  15. Libutti SK, Choyke PL, Bartlett DL, et al. Pancreatic neuroendocrine tumors associated with von Hippel Lindau disease: diagnostic and management recommendations. Surgery. 1998; 124(6): 1153–1159.
  16. Horton WA, Wong V, Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med. 1976; 136(7): 769–777.
  17. Tenner S, Roston A, Lichtenstein D, et al. Von Hippel-Lindau disease complicated by acute pancreatitis and Evan's syndrome. Int J Pancreatol. 1995; 18(3): 271–275.
  18. Dąbkowski K, Kos-Kudła B, Andrysiak-Mamos E, et al. Cystic pancreatic neuroendocrine tumours - a gastroenterologist's point of view. Endokrynol Pol. 2018; 69(3): 320–325.
  19. Erlic Z, Ploeckinger U, Cascon A, et al. VHL-ICT Consortium, German NET Registry. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. Endocr Relat Cancer. 2010; 17(4): 875–883.
  20. Safo AOF, Pambuccian SE. Pancreatic manifestations of von Hippel-Lindau disease. Arch Pathol Lab Med. 2010; 134(7): 1080–1083.
  21. Tamura K, Nishimori I, Ito T, et al. Diagnosis and management of pancreatic neuroendocrine tumor in von Hippel-Lindau disease. World J Gastroenterol. 2010; 16(36): 4515–4518.
  22. Langrehr JM, Bahra M, Kristiansen G, et al. Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood. J Pediatr Surg. 2007; 42(7): 1291–1294.
  23. de Mestier L, Gaujoux S, Cros J, et al. Long-term Prognosis of Resected Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease Is Favorable and Not Influenced by Small Tumors Left in Place. Ann Surg. 2015; 262(2): 384–388.
  24. Kos-Kudła B, Blicharz-Dorniak J, Strzelczyk J, et al. Consensus Conference, olish Network of Neuroendocrine Tumours. Pancreatic neuroendocrine neoplasms — management guidelines (recommended by the Polish Network of Neuroendocrine Tumours). Endokrynol Pol. 2013; 64(6): 459–479.
  25. Lubensky IA, Pack S, Ault D, et al. Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysis. Am J Pathol. 1998; 153(1): 223–231.
  26. Igarashi H, Ito T, Nishimori I, et al. Clinical characteristics of pancreatic neuroendocrine tumors in Japanese patients with von Hippel-Lindau disease. Pancreas. 2006; 33(4): 382–385.
  27. Miki M, Kawabe K, Igarashi H, et al. An Advanced Well-differentiated Pancreatic Neuroendocrine Carcinoma (NET-G3) Associated with Von Hippel-Lindau Disease. Intern Med. 2018; 57(14): 2007–2011.
  28. Grubb RL, Choyke PL, Pinto PA, et al. Management of von Hippel-Lindau-associated kidney cancer. Nat Clin Pract Urol. 2005; 2(5): 248–255.
  29. Walther MM, Choyke PL, Glenn G, et al. Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery. J Urol. 1999; 161(5): 1475–1479.
  30. Kroiss A, Putzer D, Uprimny C, et al. Functional imaging in phaeochromocytoma and neuroblastoma with 68Ga-DOTA-Tyr3-octreotide positron emission tomography and 123I-metaiodobenzylguanidine: a clarification. Eur J Nucl Med Mol Imaging. 2012; 39(3): 543.
  31. Oh JR, Kulkarni H, Carreras C, et al. Ga-68 Somatostatin Receptor PET/CT in von Hippel-Lindau Disease. Nucl Med Mol Imaging. 2012; 46(2): 129–133.
  32. Sizdahkhani S, Feldman MJ, Piazza MG, et al. Somatostatin receptor expression on von Hippel-Lindau-associated hemangioblastomas offers novel therapeutic target. Sci Rep. 2017; 7: 40822.
  33. Sadowski SM, Weisbrod AB, Ellis R, et al. Prospective evaluation of the clinical utility of 18-fluorodeoxyglucose PET CT scanning in patients with von hippel-lindau-associated pancreatic lesions. J Am Coll Surg. 2014; 218(5): 997–1003.
  34. Rinke A, Müller HH, Schade-Brittinger C, et al. PROMID Study Group. Placebo-controlled, double-blind, prospective, randomized study on the effect of octreotide LAR in the control of tumor growth in patients with metastatic neuroendocrine midgut tumors: a report from the PROMID Study Group. J Clin Oncol. 2009; 27(28): 4656–4663.
  35. OʼToole SM, Drake WM. Response to Somatostatin Analog Therapy in a Patient With von Hippel-Lindau Disease and Multiple Pancreatic Neuroendocrine Tumors. Pancreas. 2017; 46(7): e57.
  36. Yuan G, Liu Q, Tong D, et al. A retrospective case study of sunitinib treatment in three patients with Von Hippel-Lindau disease. Cancer Biol Ther. 2018; 19(9): 766–772.
  37. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A Review of Von Hippel-Lindau Syndrome. J Kidney Cancer VHL. 2017; 4(3): 20–29.

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Via MedicaWydawcą serwisu jest  "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl