Molecular profiles of gastroenteropancreatic endocrine tumors

Virchows Archiv

Volumn 451, Issue SUPPL. 1, 2007, Pages

  Perren, Aurel ^a,b   Anlauf, Martin ^c   Komminoth, Paul ^d  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d TRIEMLI HOSPITAL   (Switzerland)

Author keywords

Comparative genomic hybridization; Endocrine tumor; Expression array; Gastrointestinal; Genetic; LOH; Mutation analysis; Pancreatic

Indexed keywords

RNA;

CARCINOGENESIS; CLINICAL FEATURE; DISEASE COURSE; ENDOCRINE TUMOR; FAMILIAL DISEASE; GASTROINTESTINAL TRACT; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HORMONE SYNTHESIS; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TUMOR GROWTH;

EID: 34548017139     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-007-0449-9     Document Type: Review

References (59)

1. Arnold CN, Sosnowski A, Schmitt-Graff A, Arnold R, Blum HE (2007) Analysis of molecular pathways in sporadic neuroendocrine tumors of the gastro-entero-pancreatic system. Int J Cancer 120:2157-2164
2. Barghorn A, Komminoth P, Bachmann D, Rutimann K, Saremaslani P, Muletta-Feurer S, Perren A, Roth J, Heitz PU, Speel EJ (2001) Deletion at 3p25.3-p23 is frequently encountered in endocrine pancreatic tumours and is associated with metastatic progression. J Pathol 194:451-458
3. Barghorn A, Speel EJ, Farspour B, Saremaslani P, Schmid S, Perren A, Roth J, Heitz PU, Komminoth P (2001) Putative tumor suppressor loci at 6q22 and 6q23-q24 are involved in the malignant progression of sporadic endocrine pancreatic tumors. Am J Pathol 158:1903-1911
4. Bartsch D, Hahn SA, Danichevski KD, Ramaswamy A, Bastian D, Galehdari H, Barth P, Schmiegel W, Simon B, Rothmund M (1999) Mutations of the DPC4/Smad4 gene in neuroendocrine pancreatic tumors. Oncogene 18:2367-2371
5. Beghelli S, Pelosi G, Zamboni G, Falconi M, Iacono C, Bordi C, Scarpa A (1998) Pancreatic endocrine tumours: evidence for a tumour suppressor pathogenesis and for a tumour suppressor gene on chromosome 17p. J Pathol 186:41-50
6. Bloomston M, Durkin A, Yang I, Rojiani M, Rosemurgy AS, Enkmann S, Yeatman TJ, Zervos EE (2004) Identification of molecular markers specific for pancreatic neuroendocrine tumors by genetic profiling of core biopsies. Ann Surg Oncol 11:413-419
7. Capurso G, Lattimore S, Crnogorac-Jurcevic T, Panzuto F, Milione M, Bhakta V, Campanini N, Swift SM, Bordi C, Delle Fave G, Lemoine NR (2006) Gene expression profiles of progressive pancreatic endocrine tumours and their liver metastases reveal potential novel markers and therapeutic targets. Endocr-Relat Cancer 13:541-558
8. Chan AO, Kim SG, Bedeir A, Issa JP, Hamilton SR, Rashid A (2003) CpG island methylation in carcinoid and pancreatic endocrine tumors. Oncogene 22:924-934
9. Chung DC, Smith AP, Louis DN, Graeme-Cook F, Warshaw AL, Arnold A (1997) A novel pancreatic endocrine tumor suppressor gene locus on chromosome 3p with clinical prognostic implications. J Clin Invest 100:404-410
10. Couvelard A, Hu J, Steers G, O'Toole D, Sauvanet A, Belghiti J, Bedossa P, Gatter K, Ruszniewski P, Pezzella F (2006) Identification of potential therapeutic targets by gene-expression profiling in pancreatic endocrine tumors. Gastroenterology 131:1597-1610
11. Cupisti K, Hoppner W, Dotzenrath C, Simon D, Berndt I, Roher HD, Goretzki PE (2000) Lack of MEN1 gene mutations in 27 sporadic insulinomas. Eur J Clin Investig 30:325-329
12. D'Adda T, Pizzi S, Azzoni C, Bottarelli L, Crafa P, Pasquali C, Davoli C, Corleto VD, Fave GD, Bordi C (2002) Different patterns of 11q allelic losses in digestive endocrine tumors. Hum Pathol 33:322-329
13. Debelenko LV, Emmert-Buck MR, Zhuang Z, Epshteyn E, Moskaluk CA, Jensen RT, Liotta LA, Lubensky IA (1997) The multiple endocrine neoplasia type I gene locus is involved in the pathogenesis of type II gastric carcinoids. Gastroenterology 113:773-781
14. Fujimori M, Ikeda S, Shimizu Y, Okajima M, Asahara T (2001) Accumulation of beta-catenin protein and mutations in exon 3 of beta-catenin gene in gastrointestinal carcinoid tumor. Cancer Res 61:6656-6659
15. Goebel SU, Heppner C, Burns AL, Marx SJ, Spiegel AM, Zhuang Z, Lubensky IA, Gibril F, Jensen RT, Serrano J (2000) Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas. J Clin Endocrin Metab 85:116-123
16. Gortz B, Roth J, Krahenmann A, de Krijger RR, Muletta-Feurer S, Rutimann K, Saremaslani P, Speel EJ, Heitz PU, Komminoth P (1999) Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms. Am J Pathol 154:429-436
17. Guo SS, Wu X, Shimoide AT, Wong J, Moatamed F, Sawicki MP (2003) Frequent overexpression of cyclin D1 in sporadic pancreatic endocrine tumours. J Endocrin 179:73-79
18. Hansel DE, Rahman A, House M, Ashfaq R, Berg K, Yeo CJ, Maitra A (2004) Met proto-oncogene and insulin-like growth factor binding protein 3 overexpression correlates with metastatic ability in well-differentiated pancreatic endocrine neoplasms. Clin Cancer Res 10:6152-6158
19. Hessman O, Lindberg D, Einarsson A, Lillhager P, Carling T, Grimelius L, Eriksson B, Akerstrom G, Westin G, Skogseid B (1999) Genetic alterations on 3p, 11q13, and 18q in nonfamilial and MEN 1-associated pancreatic endocrine tumors. Genes Chromosomes Cancer 26:258-264
20. Hessman O, Lindberg D, Skogseid B, Carling T, Hellman P, Rastad J, Akerstrom G, Westin G (1998) Mutation of the multiple endocrine neoplasia type 1 gene in nonfamilial, malignant tumors of the endocrine pancreas. Cancer Res 58:377-379
21. Hofler H, Ruhri C, Putz B, Wirnsberger G, Hauser H (1988) Oncogene expression in endocrine pancreatic tumors. Virchows Arch B Cell Pathol Incl Mol Pathol 55:355-361
22. Hruban RH, Iacobuzio-Donahue C, Wilentz RE, Goggins M, Kern SE (2001) Molecular pathology of pancreatic cancer. Cancer J 7:251-258
23. Iwamura Y, Futagawa T, Kaneko M, Nakagawa K, Kawai K, Yamashita K, Nakamura T, Hayashi H (1992) Co-deletions of the retinoblastoma gene and Wilms' tumor gene and rearrangement of the Krev-1 gene in a human insulinoma. Jpn J Clin Oncol 22:6-9
24. Jakobovitz G, Nass D, Demarco L, Barbosa A, Simoni FB, Rechavi G, Friedman E (1996) Carcinoid tumors frequently display genetic abnormalities involving chromosome 11. J Clin Endocrinol Metab 81:3164-3167
25. Jonkers YM, Claessen SM, Feuth T, van Kessel AG, Ramaekers FC, Veltman JA, Speel EJ (2006) Novel candidate tumour suppressor gene loci on chromosomes 11q23-24 and 22q13 involved in human insulinoma tumourigenesis. J Pathol 210:450-458
26. Jonkers YM, Claessen SM, Veltman JA, Geurts van Kessel A, Dinjens WN, Skogseid B, Ramaekers FC, Speel EJ (2006) Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status. Cytogenet Genome Res 115:289-297
27. Kidd M, Eick G, Shapiro MD, Camp RL, Mane SM, Modlin IM (2005) Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors. Cancer 103:229-236
28. Komminoth P, Roth J, Muletta-Feurer S, Saremaslani P, Seelentag WK, Heitz PU (1996) RET proto-oncogene point mutations in sporadic neuroendocrine tumors. J Clin Endocrinol Metab 81:2041-2046
29. Lohmann DR, Funk A, Niedermeyer HP, Haupel S, Hofler H (1993) Identification of p53 gene mutations in gastrointestinal and pancreatic carcinoids by nonradioisotopic SSCA. Virchows Arch B Cell Pathol Incl Mol Pathol 64:293-296
30. Lollgen RM, Hessman O, Szabo E, Westin G, Akerstrom G (2001) Chromosome 18 deletions are common events in classical midgut carcinoid tumors. Int J Cancer 92:812-815
31. Maitra A, Hansel DE, Argani P, Ashfaq R, Rahman A, Naji A, Deng S, Geradts J, Hawthorne L, House MG, Yeo CJ (2003) Global expression analysis of well-differentiated pancreatic endocrine neoplasms using oligonucleotide microarrays. Clin Cancer Res 9:5988-5995
32. Moore PS, Missiaglia E, Antonello D, Zamo A, Zamboni G, Corleto V, Falconi M, Scarpa A (2001) Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL. Genes Chromosomes Cancer 32:177-181
33. Moore PS, Orlandini S, Zamboni G, Capelli P, Rigaud G, Falconi M, Bassi C, Lemoine NR, Scarpa A (2001) Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis. Br J Cancer 84:253-262
34. Perren A, Anlauf M, Henopp T, Rudolph T, Schmitt A, Raffel A, Gimm O, Weihe E, Knoefel WT, Dralle H, Heitz PU, Komminoth P, Kloppel G (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 92:1118-1128
35. Perren A, Barghorn A, Schmid S, Saremaslani P, Roth J, Heitz PU, Komminoth P (2002) Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. Oncogene 21:7605-7608
36. Perren A, Komminoth P, Saremaslani P, Matter C, Feurer S, Lees JA, Heitz PU, Eng C (2000) Mutation and expression analyses reveal differential subcellular compartmentalization of PTEN in endocrine pancreatic tumors compared to normal islet cells. Am J Pathol 157:1097-1103
37. Perren A, Saremaslani P, Schmid S, Bonvin C, Locher T, Roth J, Heitz PU, Komminoth P (2003) DPC4/Smad4: no mutations, rare allelic imbalances, and retained protein expression in pancreatic endocrine tumors. Diagn Mol Pathol 12:181-186
38. Perren A, Schmid S, Locher T, Saremaslani P, Bonvin C, Heitz PU, Komminoth P (2004) BRAF and endocrine tumors: mutations are frequent in papillary thyroid carcinomas, rare in endocrine tumors of the gastrointestinal tract and not detected in other endocrine tumors. Endocr-Relat Cancer 11:855-860
39. Ramnani DM, Wistuba II, Behrens C, Gazdar AF, Sobin LH, Albores-Saavedra J (1999) K-ras and p53 mutations in the pathogenesis of classical and goblet cell carcinoids of the appendix. Cancer 86:14-21
40. Rindi G, Villanacci V, Ubiali A, Scarpa A (2001) Endocrine tumors of the digestive tract and pancreas: histogenesis, diagnosis and molecular basis. Expert Rev Mol Diagn 1:323-333
41. Serrano J, Goebel SU, Peghini PL, Lubensky IA, Gibril F, Jensen RT (2000) Alterations in the p16INK4a/CDKN2A tumor suppressor gene in gastrinomas. J Clin Endocrinol Metab 85:4146-4156
42. Shalev A, Pise-Masison CA, Radonovich M, Hoffmann SC, Hirshberg B, Brady JN, Harlan DM (2002) Oligonucleotide microarray analysis of intact human pancreatic islets: identification of glucose-responsive genes and a highly regulated TGFbeta signaling pathway. Endocrinology 143:3695-3698
43. Shan L, Nakamura Y, Nakamura M, Yokoi T, Tsujimoto M, Arima R, Kameya T, Kakudo K (1998) Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors. Lab Invest 78:471-475
44. Shattuck TM, Costa J, Bernstein M, Jensen RT, Chung DC, Arnold A (2002) Mutational analysis of Smad3, a candidate tumor suppressor implicated in TGF-beta and menin pathways, in parathyroid adenomas and enteropancreatic endocrine tumors. J Clin Endocrinol Metab 87:3911-3914
45. Speel EJ, Richter J, Moch H, Egenter C, Saremaslani P, Rutimann K, Zhao J, Barghorn A, Roth J, Heitz PU, Komminoth P (1999) Genetic differences in endocrine pancreatic tumor subtypes detected by comparative genomic hybridization. Am J Pathol 155:1787-1794
46. Speel EJ, Scheidweiler AF, Zhao J, Matter C, Saremaslani P, Roth J, Heitz PU, Komminoth P (2001) Genetic evidence for early divergence of small functioning and nonfunctioning endocrine pancreatic tumors: gain of 9Q34 is an early event in insulinomas. Cancer Res 61:5186-5192
47. Stumpf E, Aalto Y, Hoog A, Kjellman M, Otonkoski T, Knuutila S, Andersson LC (2000) Chromosomal alterations in human pancreatic endocrine tumors. Genes Chromosomes Cancer 29:83-87
48. Su MC, Wang CC, Chen CC, Hu RH, Wang TH, Kao HL, Jeng YM, Yuan RH (2006) Nuclear translocation of beta-catenin protein but absence of beta-catenin and APC mutation in gastrointestinal carcinoid tumor. Ann Surg Oncol 13:1604-1609
49. Tannapfel A, Vomschloss S, Karhoff D, Markwarth A, Hengge UR, Wittekind C, Arnold R, Horsch D (2005) BRAF gene mutations are rare events in gastroenteropancreatic neuroendocrine tumors. Am J Clin Pathol 123:256-260
50. Terris B, Meddeb M, Marchio A, Danglot G, Flejou JF, Belghiti J, Ruszniewski P, Bernheim A (1998) Comparative genomic hybridization analysis of sporadic neuroendocrine tumors of the digestive system. Genes Chromosomes Cancer 22:50-56
51. Vortmeyer AO, Huang S, Lubensky I, Zhuang Z (2004) Non-islet origin of pancreatic islet cell tumors. J Clin Endocrinol Metab 89:1934-1938
52. Wang DG, Johnston CF, Buchanan KD (1997) Oncogene expression in gastroenteropancreatic neuroendocrine tumors: implications for pathogenesis. Cancer 80:668-675
53. Wang EH, Ebrahimi SA, Wu AY, Kashefi C, Passaro E Jr, Sawicki MP (1998) Mutation of the MENIN gene in sporadic pancreatic endocrine tumors. Cancer Res 58:4417-4420
54. Yashiro T, Fulton N, Hara H, Yasuda K, Montag A, Yashiro N, Straus F 2nd, Ito K, Aiyoshi Y, Kaplan EL (1993) Comparison of mutations of ras oncogene in human pancreatic exocrine and endocrine tumors. Surgery 114:758-763 discussion 763-764
55. Younes N, Fulton N, Tanaka R, Wayne J, Straus FH 2nd, Kaplan EL (1997) The presence of K-12 ras mutations in duodenal adenocarcinomas and the absence of ras mutations in other small bowel adenocarcinomas and carcinoid tumors. Cancer 79:1804-1808
56. Yu F, Jensen RT, Lubensky IA, Mahlamaki EH, Zheng YL, Herr AM, Ferrin LJ (2000) Survey of genetic alterations in gastrinomas. Cancer Res 60:5536-5542
57. Zhao J, de Krijger RR, Meier D, Speel EJ, Saremaslani P, Muletta-Feurer S, Matter C, Roth J, Heitz PU, Komminoth P (2000) Genomic alterations in well-differentiated gastrointestinal and bronchial neuroendocrine tumors (carcinoids): marked differences indicating diversity in molecular pathogenesis. Am J Pathol 157:1431-1438
58. Zhao J, Moch H, Scheidweiler AF, Baer A, Schaffer AA, Speel EJ, Roth J, Heitz PU, Komminoth P (2001) Genomic imbalances in the progression of endocrine pancreatic tumors. Genes Chromosomes Cancer 32:364-372
59. Zhuang Z, Vortmeyer AO, Pack S, Huang S, Pham TA, Wang C, Park WS, Agarwal SK, Debelenko LV, Kester M, Guru SC, Manickam P, Olufemi SE, Yu F, Heppner C, Crabtree JS, Skarulis MC, Venzon DJ, Emmert-Buck MR, Spiegel AM, Chandrasekharappa SC, Collins FS, Burns AL, Marx SJ, Lubensky IA et al (1997) Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res 57:4682-4686