Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 558-563

  Larson, A M ^a   Hedgire, S S ^a   Deshpande, V ^a   Stemmer Rachamimov, A O ^a   Harisinghani, M G ^a   Ferrone, C R ^a   Shah, U ^a   Thiele, E A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

MTOR pathway; Pancreatic endocrine neoplasm; Pancreatic neuroendocrine tumor; TSC2 gene; Tuberous sclerosis complex

Indexed keywords

TUBERIN;

ADULT; ANGIOMYOLIPOMA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENOTYPE; HUMAN; MALE; PANCREATIC NEUROENDOCRINE TUMOR; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADULT; CHILD; FEMALE; GERM-LINE MUTATION; HUMANS; INCIDENCE; MALE; MASSACHUSETTS; MIDDLE AGED; NEUROENDOCRINE TUMORS; PANCREATIC NEOPLASMS; TOMOGRAPHY, X-RAY COMPUTED; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84869081570     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01805.x     Document Type: Article

References (33)

1. Halfdanarson TR, Rabe KG, Rubin J, Petersen GM. Pancreatic neuroendocrine tumors (PNETs): incidence, prognosis and recent trend toward improved survival. Ann Oncol 2008: 19 (10): 1727-1733.
2. Ekeblad S, Skogseid B, Dunder K, Öberg K, Eriksson B. Prognostic factors and survival in 324 patients with pancreatic endocrine tumor treated at a single institution. Clin Cancer Res 2008: 14 (23): 7798-7803.
3. Alexakis N, Connor S, Ghaneh P et al. Hereditary pancreatic endocrine tumours. Pancreatology 2004: 4 (5): 417-433.
4. Anlauf M, Garbrecht N, Bauersfeld J et al. Hereditary neuroendocrine tumors of the gastroenteropancreatic system. Virchows Arch 2007: 451 (1): S29-S38.
5. Jensen RT, Berna MJ, Bingham DB, Norton JA. Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer 2008: 113 (7): 1807-1843.
6. Lodish MB, Stratakis CA. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab 2010: 24 (3): 439-449.
7. Gutman A, Leffkowitz M. Tuberous sclerosis associated with spontaneous hypoglycaemia. Br Med J 1959: 2 (5159): 1065-1068.
8. Davidson SI. A case of tuberous sclerosis with hypoglycemic attacks [in Hebrew]. Dapium Refuiim 1960: 19: 70-73.
9. Ilgren EB, Westmoreland D. Tuberous sclerosis: unusual associations in four cases. J Clin Pathol 1984: 37 (3): 272-278.
10. Davoren PM, Epstein MT. Insulinoma complicating tuberous sclerosis. J Neurol Neurosurg Psychiatry 1992: 55 (12): 1209.
11. Schwarzkopf G, Pfisterer J. Metastasizing gastrinoma and tuberous sclerosis complex. Association or coincidence? [in German). Zentralbl Pathol 1994: 139 (6): 477-481.
12. Kim H, Kerr A, Morehouse H. The association between tuberous sclerosis and insulinoma. AJNR Am J Neuroradiol 1995: 16 (7): 1543-1544.
13. Boubaddi NE, Imbert Y, Tissot B et al. Secreting insulinoma and Bourneville's tuberous sclerosis [in French). Gastroenterol Clin Biol 1997: 21 (4): 343.
14. Verhoef S, van Diemen-Steenvoorde R, Akkersdijk WL et al. Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. Eur J Pediatr 1999: 158 (4): 284-287.
15. Eledrisi MS, Stuart CA, Alshanti M. Insulinoma in a patient with tuberous sclerosis: is there an association? Endocr Pract 2002: 8 (2): 109-112.
16. Francalanci P, Diomedi-Camassei F, Purificato C et al. Malignant pancreatic endocrine tumor in a child with tuberous sclerosis. Am J Surg Pathol 2003: 27 (10): 1386-1369.
17. Merritt JL II, Davis DMR, Pittelkow MR, Babovic-Vuksanovic D. Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations. Am J Med Genet A 2006: 140 (15): 1669-1672.
18. Sreenarasimhaiah J, Armstrong LA, Tang SJ, Barnett C. Pancreatic somatostatinoma and tuberous sclerosis: case report of an exceedingly rare association. Gastrointest Endosc 2009: 69 (2): 379-381.
19. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006: 355 (13): 1345-1356.
20. Klimstra D, Modlin I, Coppola D et al. The pathologic classification of neuroendocrine tumors: a review of nomenclature, grading, and staging systems. Pancreas 2010: 39 (6): 707-712.
21. Vagefi PA, Razo O, Deshpande V et al. Evolving patterns in the detection and outcomes of pancreatic neuroendocrine neoplasms: the Massachusetts General Hospital experience from 1977 to 2005. Arch Surg 2007: 142 (4): 347-354.
22. Bordeianou L, Vagefi PA, Sahani D et al. Cystic pancreatic endocrine neoplasms: a distinct tumor type?. J Am Coll Surg 2008: 206 (3): 1154-1158.
23. Zamboni G, Pea M, Martignoni G et al. Clear cell "sugar" tumor of the pancreas. A novel member of the family of lesions characterized by the presence of perivascular epithelioid cells. Am J Surg Pathol 1996: 20 (6): 722-730.
24. Ramuz O, Lelong B, Giovannini M et al "Sugar" tumor of the pancreas: a rare entity that is diagnosable on preoperative fine-needle biopsies. Virchows Arch 2005: 446 (5): 555-559.
25. Hirabayashi K, Nakamura N, Kajiwara H et al. Perivascular epithelioid cell tumor (PEComa) of the pancreas: immunoelectron microscopy and review of the literature. Pathol Int 2009: 59 (9): 650-655.
26. Heywood G, Smyrk TC, Donohue JH. Primary angiomyolipoma of the pancreas. Pancreas 2004: 28 (4): 443-445.
27. Kwiatkowski DJ. Genetics of tuberous sclerosis complex. In: Kwiatkowski DJ, Wittemore VH, Thiele EA, eds. Tuberous sclerosis complex: genes, clinical features, and therapeutics. WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany, 2010: 29-60.
28. Missiaglia E, Dalai I, Barbi S et al. Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. J Clin Oncol 2010: 28 (2): 245-255.
29. Zitzmann K, De Toni EN, Brand S et al. The novel mTOR inhibitor RAD001 (everolimus) induces antiproliferative effects in human pancreatic neuroendocrine tumor cells. Neuroendocrinology 2007: 85 (1): 54-60.
30. Chan HY, Grossman AB, Bukowski RM. Everolimus in the treatment of renal cell carcinoma and neuroendocrine tumors. Adv Ther 2010: 27 (8): 495-511.
31. Strimpakos AS, Syrigos KN, Saif MW. Pancreatic neuroendocrine tumors: role of novel agents highlights from the "2011 ASCO Gastrointestinal Cancers Symposium". San Francisco, CA, USA. January 20-22, 2011. JOP 2011: 12 (2): 117-119.
32. Jiao Y, Shi C, Edil BH et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011: 331 (6021): 1199-1203.
33. Van Der Hoeve J. Les phakomatoses de Bourneville, de Recklinghausen et de von Hippel-Lindau. J Belge Neurol Psychiatr 1933: 33: 752-776.