PTEN gene loss, but not mutation, in benign and malignant phaeochromocytomas

Journal of Pathology

Volumn 209, Issue 2, 2006, Pages 274-280

  van Nederveen, F H ^a   Perren, A ^b   Dannenberg, H ^a   Petri, B J ^a   Dinjens, W N M ^a   Komminoth, P ^b   de Krijger, R R ^a  

^a JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Benign; LOH; Malignant; Mutation analysis; Phaeochromocytoma; PTEN

Indexed keywords

DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADOLESCENT; ADULT; AGED; ARTICLE; BONE MARROW METASTASIS; BONE METASTASIS; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE LOCUS; GENE LOSS; GENE MUTATION; GERM LINE; HEART METASTASIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIVER METASTASIS; LYMPH NODE METASTASIS; MALE; PATHOGENESIS; PHEOCHROMOCYTOMA; PLEURA METASTASIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; AGED; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENE SILENCING; GENES, TUMOR SUPPRESSOR; HUMANS; IMMUNOHISTOCHEMISTRY; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PHEOCHROMOCYTOMA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PTEN PHOSPHOHYDROLASE;

EID: 33744496803     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.1968     Document Type: Article

References (37)

1. Yoshimoto T, Naruse M, Zeng Z, Nishikawa T, Kasajima T, Toma. H, et al. The relatively high frequency of p53 gene mutations in multiple and malignant phaeochromocytomas. J Endocrinol 1998;159:247-255.
2. Van der Harst E, Bruining HA, Bonjer HJ, Van der Ham F, Dinjens WNM, Lamberts SWJ, et al. Proliferative index in phaeochromocytomas: does it predict the occurrence of metastases? J Pathol. 2000;191:175-180.
3. Van der Harst E, De Krijger RR, Bruining HA, Lamberts SWJ, Bonjer HJ, Dinjens WNM, et al. Prognostic value of RET protooncogene point mutations in malignant and benign, sporadic phaeochromocytomas. Int J Cancer 1998;79:537-540.
4. Lam KY, Lo CY, Wat NMS, Luk JM, Lam KSL. The clinicopathological features and importance of p53, Rb, and mdm2 expression in phaeochromocytomas and paragangliomas. J Clin Pathol 2001;54:443-448.
5. Elder EE, Xu D, Hoog A, Enberg U, Hou M, Pisa P, et al. KI-67 and hTERT expression can aid in the distinction between malignant and benign pheochromocytoma and paraganglioma. Mod Pathol 2003;3:246-255.
6. De Krijger RR, Van der Harst E, Van der Ham F, Stijnen T, Dinjens WNM, Koper JW, et al. Prognostic value of P53, bcl-2 and C-erbB-2 protein expression in pheochromocytomas. J Pathol 1999;188:51-55.
7. Dannenberg H, De Krijger RR, Van der Harst E, Abbou M, IjzendoornY, Komminoth P, et al. Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas. Int J Cancer 2003;105:190-195.
8. August C, August K, Schroeder S, Bahn H, Hinze R, Baba HA, et al. CGH and CD44/MIB-1 immunohistochemistry are helpful to distinguish metastasized from nonmetastasized sporadic pheochromocytomas. Mod Pathol 2004;17:1119-1128.
9. Boltze C, Mundschenk J, Unger N, Schneider-Stock R, Peters B, Mawrin C, et al. Expression profile of the telomeric complex discriminates between benign and malignant pheochromocytorna. J Clin Endocrinol Metab 2003;9:4280-4286.
10. Salmenkivi K, Arola J, Ristimaki A, Voutilainen R, IIEvesmaki V, Haglund C, et al. Inhibin/activin betaB-subunit expression in pheochromocytomas favors benign diagnosis. J Clin Endocrinol Metab 2001;86:4280-300.
11. Neumann HPH, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459-1466.
12. Van der Harst E, De Krijger RR, Dinjens ATNM, Weeks LE, Bonjer HJ, Bruining HA, et al. Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. Int J Cancer 1998;77:337-340.
13. Brauch H, Hoeppner W, Jahnig H, Wohl T, Engelhardt D, Spelsberg F, et al. Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. J Clin Endocrinol Metab 1997;82:4101-4104.
14. Dannenberg H, Van Nederveen FH, Abbou M, Verhofstad AA, Komminoth P, De Krijger RR, et al. Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. J Clin Oncol 2005;23:1894-1901.
15. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997;275:1876-1878.
16. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, et al. Identification of a candidate turnout suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet 1997;15:356-362.
17. Kwabbi-Addo B, Giri D, Schmidt K, Podsypanina K, Parsons R, Greenberg N, et al. Haploinsufficiency of the pten tumor suppressor gene promotes prostate cancer progression. PNAS 2001;98:11463-11568.
18. Lee HS, Lee HK, Kim HS, Yang HK, Kim W'H. Tumour suppressor gene expression correlates with gastric cancer prognosis. J Pathol 2003;200:39-46.
19. Zundel W, Schindel C, Haas-Kogan D, Koong A, Kaper F, Chen E, et al. Loss of PTEN facilitates HIF- 1 -mediated gene expression. Genes Dev 2000;14:391-396.
20. You MJ, Castrillon DH, Bastian BC, O'Hagan RCO, Bosenberg MW, Parsons R, et al. Genetic analysis of Pten and Ink4a/Arf interactions in the suppression of tumorigenesis in mice. PNAS 2002;99:1455-1460.
21. Podsypanina K, Ellenson LH, Nemes A, Gu J, Tamura M, Yamada KM, et al. Mutation of Pten/Mmac 1 in mice causes neoplasia in multiple organ systems. PNAS 1999;96:1263-1568.
22. Ma X, Ziel-van der Made AC, Autar B, Van der Korput HA, Vermeij M, van Duijn P, et al. Targeted biallelic inactivation of Pten in the mouse prostate leads to prostate cancer accompanied by increased epithelial cell proliferation but not by reduced apoptosis. Cancer Res 2005;65:5730-5739.
23. Perren A, Komminoth P, Saremaslani P, Matter C, Feurer S, Lees JA, et al. Mutation and expression analyses reveal differential subcellular compartmentalisation of PTEN in endocrine pancreatic tumors compared to normal islet cells. Am J Pathol 2000;157:1097-1103.
24. Kornminoth P, Kunz E, Hiort O, Schroder S, Matias-Guiu X, Christiansen G, et al. Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single strand conformation polymorphism analysis and direct sequencing. Am J Pathol 1994;145:922-929.
25. Perren A, Weng LP, Boag AH, Ziebold U, Thakore K, Dahia PLM, et al. Immunohistochemical evidence of loss of PTEN expression in primary ductal adenocarcinomas of the breast. Am J Pathol 1999;155:1253-1260.
26. Wang L, Ignat A, Axiotis CA. Differential expression of the PTEN tumor suppressor protein in fetal and adult neuroendocrine tissues and tumors: progressive loss of PTEN expression in poorly differentiated neuroendocrine neoplasms. Appl Imm Mol Morphol 2002;10:139-146.
27. Fassnacht M, Weismann D, Ebert S, Adam P, Zink M, Beuschlein F, et al. AKT is highly phosphorylated in pheochromocytomas, but not in benign adrenocortical tumors., J Clin Endocrinol Metab 2005;7:4366-4370.
28. Dammann R, Schagdarsurengin U, Seidel C, Trümpler C, Hoang-Vu C, Gimm O, et al. Frequent promoter methylation of tumorrelated genes in sporadic and Men2-associated pheochromocytomas. Exp Clin Endocrinol Diabetes 2005;113:1-7.
29. Dannenberg H, Speel EJ, Zhao J, Saremaslani P, van Der Harst E, Roth J, et al. Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas. Am J Pathol 2000;157:353-359.
30. Dahia PLM, Ross KN, Wright ME, Hayshida CY, Santagata S, Barontini M, et al. A Hif α1 regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005;1:e8.
31. Koshiji M, To KWK, Hammer S, Kumamoto K, Harris AL, Modrich P, et al. HIF-1α induces genetic instability by transcriptionally downregulating Mutsu expression. Mol Cell 2005;17:793-803.
32. Zhou XP, Gimm O, Hampel H, Niemann TM, Walker MJ, Eng C. Epigenetic silencing in malignant melanomas without PTEN mutation. Am J Pathol 2000;157:1123-1128.
33. Garcia JM, Silva J, Pena C, Garcia V, Rodriguez R, Cruz MA, et al. Promoter methylation of the PTEN gene is a common molecular change in breast cancer. Genes Chromosomes Cancer 2004;41:117-124.
34. Dahia PL, Aguiar RC, Albetra J, Kum JB, Caron S, Sill H, et al. PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanisms in haematological malignancies. Hum Mol Genet 1999;8:185-193.
35. Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet 2002;70:829-844.
36. Tischler AS, Powers JF, Alroy J. Animal models of pheochromocytoma. Histol Histopathol 2004;19:883-895.
37. Tischler AS, Shih TS, Williams BO, Jacks T. Characterization of pheochromocytomas in a mouse strain with targeted disruptive mutation of the neurofibromatosis gene Nf1. Pathol 1995;6:323-325.