Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma

Genes Chromosomes and Cancer

Volumn 47, Issue 7, 2008, Pages 614-624

  Castiglia, Daniele ^a   Bernardini, Silvia ^a   Alvino, Ester ^b   Pagani, Elena ^a   De Luca, Naomi ^a   Falcinelli, Sabrina ^a   Pacchiarotti, Alberto ^a   Bonmassar, Enzo ^c   Zambruno, Giovanna ^a   D'Atri, Stefania ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AXIN; BETA CATENIN; PROTEIN AXIN 2; WNT PROTEIN;

ARTICLE; CONTROLLED STUDY; DEREGULATION; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MELANOMA; MISMATCH REPAIR; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEGATIVE FEEDBACK; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION;

ADENOMATOUS POLYPOSIS COLI PROTEIN; BETA CATENIN; BLOTTING, NORTHERN; BLOTTING, WESTERN; CYTOSKELETAL PROTEINS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOENZYME TECHNIQUES; MELANOMA; PEPTIDE FRAGMENTS; POLYMERASE CHAIN REACTION; WNT PROTEINS;

EID: 44349122342     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20567     Document Type: Article

References (54)

1. Abdel-Rahman WM, Mecklin JP, Peltomaki P. 2006. The genetics of HNPCC: Application to diagnosis and screening. Crit Rev Oncol Hematol 58:208-220.
2. Alvino E, Marra G, Pagani E, Falcinelli S, Pepponi R, Perrera C, Haider R, Castiglia D, Ferranti G, Bonmassar E, Jiricny J, Zambruno G, D'Atri S. 2002. High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma. J Investig Dermatol 118:79-86.
3. Bachmann IM, Straume O, Puntervoll HE, Kalvenes MB, Akslen LA. 2005. Importance of P-cadherin, beta-catenin, and Wnt5a/frizzled for progression of melanocytic tumors and prognosis in cutaneous melanoma. Clin Cancer Res 11:8606-8614.
4. Caporali S, Falcinelli S, Starace G, Russo MT, Bonmassar E, Jiricny J, D'Atri S. 2004. DNA damage induced by temozolomide signals to both ATM and ATR: Role of the mismatch repair system. Mol Pharmacol 66:478-191.
5. Castiglia D, Pagani E, Alvino E, Vernole P, Marra G, Cannavo E, Jiricny J, Zambruno G, D'Atri S. 2003. Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma. Genes Chromosomes Cancer 37:165-175.
6. Curry BJ, Smith MJ, Hersey P. 1996. Detection and quantitation of melanoma cells in the circulation of patients. Melanoma Res 6:45-54.
7. Demunter A, Libbrecht L, Degreef H, de Wolf-Peeters C, van den Oord JJ. 2002. Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. Mod Pathol 15:454-461.
8. Fukushima H, Yamamoto H, Itoh F, Horiuchi S, Min Y, Iku S, Imai K. 2001. Frequent alterations of the beta-catenin and TCF-4 genes, but not of the APC gene, in colon cancers with high-frequency microsatellite instability. J Exp Clin Cancer Res 20:553-559.
9. Giambernardi TA, Rodeck U, Klebe RJ. 1998. Bovine serum albumin reverses inhibition of RT-PCR by melanin. Biotechniques 25:564-566.
10. Giles RH, van Es JH, Clevers H. 2003. Caught up in a Wnt storm: Wnt signaling in cancer. Biochim Biophys Acta 1653:1-24.
11. Gregorieff A, Clevers H. 2005. Wnt signaling in the intestinal epithelium: From endoderm to cancer. Genes Dev 19:877-890.
12. Haass NK, Smalley KS, Li L, Herlyn M. 2005. Adhesion, migration and communication in melanocytes and melanoma. Pigment Cell Res 18:150-159.
13. Herlyn M, Berking C, Li G, Satyamoorthy K. 2000. Lessons from melanocyte development for understanding the biological events in naevus and melanoma formation. Melanoma Res 10:303-312.
14. Jiricny J. 2006. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 7:335-16.
15. Johnson V, Volikos E, Halford SE, Eftekhar Sadat ET, Popat S, Talbot I, Truninger K, Martin J, Jass J, Houlston R, Atkin W, Tomlinson IP, Silver AR. 2005. Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome. Gut 54:264-267.
16. Kageshita T, Hamby CV, Ishihara T, Matsumoto K, Saida T, Ono T. 2001. Loss of beta-catenin expression associated with disease progression in malignant melanoma. Br J Dermatol 145:210-216.
17. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner R. 1997. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 57:808-811.
18. Kielhorn E, Provost E, Olsen D, D'Aquila TG, Smith BL, Camp RL, Rimm DL. 2003. Tissue microarray-based analysis shows phospho-beta-catenin expression in malignant melanoma is associated with poor outcome. Int J Cancer 103:652-656.
19. Kitaeva MN, Grogan L, Williams JP, Dimond E, Nakahara K, Hausner P, DeNobile JW, Soballe PW, Kirsch IR. 1997. Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors. Cancer Res 57:4478-4481.
20. Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pinnen S, Nieminen P. 2004. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74:1043-1050.
21. Larue L, Delmas V. 2006. The Wnt/Beta-catenin pathway in melanoma. Front Biosci 11:733-742.
22. Lawes DA, SenGupta S, Boulos PB. 2003. The clinical importance and prognostic implications of microsatellite instability in sporadic cancer. Eur J Surg Oncol 29:201-212.
23. Levari L, Marra G, Lettieri T, D'Atri S, Vernole P, Tentori L, Lacal PM, Pagani E, Bonmassar E, Jiricny J, Graziani G. 1998. Mutation of the mismatch repair gene hMSH2 and hMSH6 in a human T-cell leukemia line tolerant to methylating agents. Genes Chromosomes Cancer 23:159-166.
24. Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN. 2000. Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet 26:146-147.
25. Lustig B, Jerchow B, Sachs M, Weiler S, Pietsch T, Karsten U, van de Wetering M, Clevers H, Schlag PM, Birchmeier W, Behrens J. 2002. Negative feedback loop of Wnt signaling through upregulation of conductin/axin2 in colorectal and liver tumors. Mol Cell Biol 22:1184-1193.
26. Maelandsmo GM, Holm R, Nesland JM, Fodstad O, Florenes VA. 2003. Reduced beta-catenin expression in the cytoplasm of advanced-stage superficial spreading malignant melanoma. Clin Cancer Res 9:3383-3388.
27. Mirabelli-Primdahl L, Gryfe R, Kim H, Millar A, Luceri C, Dale D, Holowaty E, Bapat B, Gallinger S, Redston M. 1999. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 59:3346-3351.
28. Miyaki M, Iijima T, Kimura J, Yasuno M, Mori T, Hayashi Y, Koike M, Shitara N, Iwama T, Kuroki T. 1999. Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer. Cancer Res 59:4506-4509.
29. Moreno-Bueno G, Hardisson D, Sanchez C, Sarrio D, Cassia R, Garcia-Rostan G, Prat J, Guo M, Herman JG, Matias-Guiu X, Esteller M, Palacios J. 2002. Abnormalities of the APC/beta-catenin pathway in endometrial cancer. Oncogene 21:7981-7990.
30. Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW. 1997. Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science 275:1787-1790.
31. Omholt K, Platz A, Ringborg U, Hansson J. 2001. Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. Int J Cancer 92:839-842.
32. Palacios J, Gamallo C. 1998. Mutations in the beta-catenin gene (CTNNB1) in endometrioid ovarian carcinomas. Cancer Res 58:1344-1347.
33. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomäki P, Mecklin J-P, de la Chapelle A, Kinzler KW, Vogelstein B. 1994. Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625-1629.
34. 6-alkylguanine-DNA alkyltransferase and mismatch repair activities on the sensitivity of human melanoma cells to temozolomide, 1,3-bis(2-Chloroethyl)1-nitrosourea, and cisplatin. J Pharmacol Exp Ther 304:661-668.
35. Polakis P. 2007. The many ways of Wnt in cancer. Curr Opin Genet Dev 17:45-51.
36. Pollock PM, Hayward N. 2002. Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. Melanoma Res 12:183-186.
37. Reifenberger J, Knobbe CB, Wolter M, Blaschke B, Schulte KW, Pietsch T, Ruzicka T, Reifenberger G. 2002. Molecular genetic analysis of malignant melanomas for aberrations of the Wnt signaling pathway genes CTNNB1, APC, ICAT and BTRC. Int J Cancer 100:549-556.
38. Rimm DL, Caca K, Hu G, Harrison FB, Fearon ER. 1999. Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. Am J Pathol 154:325-329.
39. Rowan AJ, Lamlum H, Ilyas M, Wheeler J, Straub J, Papadopoulou A, Bicknell D, Bodmer WF, Tomlinson IP. 2000. APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits". Proc Natl Acad Sci USA 97:3352-3357.
40. Rubinfeld B, Robbins P, el-Gamil M, Albert I, Porfiri E, Polakis P. 1997. Stabilization of beta-catenin by genetic defects in melanoma cell lines. Science 275:1790-1792.
41. Ruckert S, Hiendlmeyer E, Brueckl WM, Oswald U, Beyser K, Dietmaier W, Haynl A, Koch C, Ruschoff J, Brabletz T, Kirchner T, Jung A. 2002. T-cell factor-4 frameshift mutations occur frequently in human microsatellite instability-high colorectal carcinomas but do not contribute to carcinogenesis. Cancer Res 62:3009-3013.
42. Segditsas S, Tomlinson I. 2006. Colorectal cancer and genetic alterations in the Wnt pathway. Oncogene 25:7531-7537.
43. Shimizu Y, Ikeda S, Fujimori M, Kodama S, Nakahara M, Okajima M, Asahara T. 2002. Frequent alterations in the Wnt signaling pathway in colorectal cancer with microsatellite instability. Genes Chromosomes Cancer 33:73-81.
44. Shitoh K, Furukawa T, Kojima M, Konishi F, Miyaki M, Tsukamoto T, Nagai H. 2001. Frequent activation of the beta-catenin-Tcf signaling pathway in nonfamilial colorectal carcinomas with microsatellite instability. Genes Chromosomes Cancer 30:32-37.
45. Silye R, Karayiannakis AJ, Syrigos KN, Poole S, van Noorden S, Batchelor W, Regele H, Sega W, Boesmueller H, Krausz T, Pignatelli M. 1998. E-cadherin/catenin complex in benign and malignant melanocytic lesions. J Pathol 186:350-355.
46. Suraweera N, Robinson J, Volikos E, Guenther T, Talbot I, Tomlinson I, Silver A. 2006. Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines. Int J Cancer 119:1837-1842.
47. Taniguchi K, Roberts LR, Aderca IN, Dong X, Qian C, Murphy LM, Nagorney DM, Burgart LJ, Roche PC, Smith DI, Ross JA, Liu W. 2002. Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas. Oncogene 21:4863-1871.
48. Thorstensen L, Lind GE, Lovig T, Diep CB, Meling GI, Rognum TO, Lothe RA. 2005. Genetic and epigenetic changes of components affecting the Wnt pathway in colorectal carcinomas stratified by microsatellite instability. Neoplasia 7:99-108.
49. Umar A, Boyer JC, Thomas DC, Nguyen DC, Risinger JI, Boyd J, Ionov Y, Perucho M, Kunkel TA. 1994. Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability. J Biol Chem 269:14367-14370.
50. Weeraratna AT. 2005. A Wnt-er wonderland - the complexity of Wnt signaling in melanoma. Cancer Metastisis Rev 24:237-250.
51. Worm J, Christensen C, Gronbaek K, Tulchinsky E, Guldberg P. 2004. Genetic and epigenetic alterations of the APC gene in malignant melanoma. Oncogene 23:5215-5226.
52. Wu R, Connolly DC, Ren X, Fearon ER, Cho KR. 1999. Somatic mutations of the PPP2R1B candidate tumor suppressor gene at chromosome 11q23 are infrequent in ovarian carcinomas. Neoplasia 1:311-314.
53. Wu R, Zhai Y, Fearon ER, Cho KR. 2001. Diverse mechanisms of beta-catenin deregulation in ovarian endometrioid adenocarcinomas. Cancer Res 61:8247-8255.
54. Yan D, Wiesmann M, Rohan M, Chan V, Jefferson AB, Guo L, Sakamoto D, Caothien RH, Fuller JH, Reinhard C, Garcia PD, Randazzo FM, Escobedo J, Fantl WJ, Williams LT. 2001. Elevated expression of axin2 and hnkd mRNA provides evidence that Wnt/beta -catenin signaling is activated in human colon tumors. Proc Natl Acad Sci USA 98:14973-14978.