Low frequency of p16/CDKN2A methylation in sporadic melanoma: Comparative approaches to methylation analysis of primary tumors

Cancer Research

Volumn 57, Issue 23, 1997, Pages 5336-5347

  Gonzalgo, Mark L ^a   Bender, Christina M ^a   You, Edward H ^a   Glendening, J Michael ^a   Flores, José F ^a   Walker, Graeme J ^a,b   Hayward, Nicholas K ^b   Jones, Peter A ^a   Fountain, Jane W ^a,c  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DNA METHYLATION; GENE FREQUENCY; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC PREDISPOSITION; GROWTH INHIBITION; HUMAN; HUMAN CELL; MELANOMA; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DINUCLEOSIDE PHOSPHATES; DNA METHYLATION; DNA PRIMERS; DNA, NEOPLASM; GENES, P16; HUMANS; MELANOMA; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); RESTRICTION MAPPING; SKIN NEOPLASMS; TUMOR CELLS, CULTURED;

EID: 0030697181     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Greene, M. H., and Fraumeni, J. F., Jr. The hereditary variant of malignant melanoma. In: W. H. Clark, Jr., L. I. Goldman, and M. J. Mastrangelo (eds.), Human Malignant Melanoma, pp. 139-166. New York: Grune and Stratton, 1979.
2. Char, D. H. Current treatments and trials for uveal melanoma. Oncology, 3: 113-121, 1989.
3. Fountain, J. W., Bale, S. J., Housman, D. E., and Dracopoli, N. C. Genetics of melanoma. Cancer Surv., 9: 645-671, 1990.
4. Fountain, J. W. Genetic Factors. In: Balch, C. N., Houghton, A. N., Sober, A. J., and Soong, S-J. (eds.), Cutaneous Melanoma, Ed. 3, in press. St. Louis: Quality Medical Publishing, Inc., 1997.
5. Thompson, F. H., Emerson, J., Olson, S., Weinstein, R., Leavitt, S. A., Leong, S. P. L., Emerson, S., Trent, J. M., Nelson, M. A., Salmon, S. E., Taetle, R. Cytogenetics of 158 patients with regional or disseminated melanoma. Cancer Genet. Cytogenet., 83: 93-104, 1995.
6. Cowan, J. M., Halaban, R., and Francke, U. Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. J. Natl. Cancer Inst., 80: 1159-1164, 1988.
7. Healy, E., Belgaid, C. E., Takata, M., Vahlquist, A., Rehman, I., Rigby, H., and Rees, J. L. Allelotypes of primary cutaneous melanoma and benign melanocytic nevi. Cancer Res., 56: 589-593, 1996.
8. Kamb, A., Gruis, N. A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S. V., Stockert, E., Day, R. S., III, Johnson, B. E., and Skolnick, M. H. A cell cycle regulator potentially involved in the genesis of many tumor types. Science (Washington DC), 264: 436-440, 1994.
9. Nobori, T., Miura, K., Wu, D. J., Lois, A., Takabayashi, K., and Carson, D. A. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature (Lond.), 368: 753-756, 1994.
10. INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma. Cancer Res., 56: 5023-5032, 1996.
11. Ohta, M., Berd, D., Shimizu, M., Nagai, H., Cotticelli, M-G., Mastrangelo, M., Shields, J. A., Shields, C. L., Croce, C. M., and Huebner, K. Deletion mapping of chromosome region 9p21-22 surrounding the CDKN2 locus in melanoma. Int. J. Cancer, 65: 762-767, 1996.
12. Hussussian, C. J., Struewing, J. P., Goldstein, A. M., Higgins, P. A. T., Ally, D. S., Sheahan, M. D., Clark, W. H., Jr., Tucker, M. A., and Dracopoli, N. C. Germline p16 mutations in familial melanoma. Nat. Genet., 8: 15-21, 1994.
13. Kamb, A. Shattuck-Eidens, D., Eeles, R., Liu, Q., Gruis, N. A., Ding, W., Hussey, C., Tran, T., Miki, Y., Weaver-Feldhaus, J., McClure, M., Aitken, J. F., Anderson, D. E., Bergman, W., Frants, R., Goldgar, D. E., Green, A., MacLennan, R., Martin, N. G., Meyer, L. J., Youl, P., Zone, J. J., Skolnick, M. H., and Cannon-Albright, L. A. Analysis of the p16 gene (CDKN2) as a candidate for the 9p melanoma susceptibility locus. Nat. Genet., 8: 22-26, 1994.
14. INK4 gene in Australian melanoma kindreds. Hum. Mol. Genet., 4: 1845-1852, 1995.
15. Gruis, N. A., van der Velden, P. A., Sandkuijl, L. A., Prins, D. E., Weaver-Feldhaus, J., Kamb, A., Bergman, W., and Frants, R. R. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat. Genet., 10: 351-353, 1995.
16. Ohta, M., Nagai, H., Shimizu, M., Rasio, D., Berd, D., Mastrangelo, M., Singh, A. D., Shields, J. A., Shields, C. L., Croce, C. M., and Huebner, K. Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK41, in melanoma. Cancer Res., 54: 5269-5272, 1994.
17. INK4 in sporadic melanoma. J. Invest. Dermatol., 107: 318-321, 1996.
18. Reed, A. L., Califano, J., Cairns, P., Westra, W. H., Jones, R. M., Koch, W., Ahrendt, S., Eby, Y., Sewell, D., Nawroz, H., Bartek, J., and Sidransky, D. High frequency of p16 (CDKN2/MTS-1/INK4A) inactivation in head and neck squamous cell carcinoma. Cancer Res., 56: 3630-3633, 1996.
19. Merlo, A., Herman, J. G., Mao, L., Lee, D. J., Gabrielson, E., Burger, P. C., Baylin, S. B., and Sidransky, D. 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nat. Med., 1: 686-692, 1995.
20. Herman, J. G., Merlo, A., Mao, L., Lapidus, R. G., Issa, J. P., Davidson, N. E., Sidransky, D., and Baylin, S. B. Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res., 55: 4525-4530, 1995.
21. Gonzalez-Zulueta, M., Bender, C. M., Yang, A. S., Nguyen, T., Beart, R. W., Van Tornout, J. M., and Jones, P. A. Methylation of the 5′ CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing. Cancer Res., 55: 4531-4535, 1995.
22. Costello, J. F., Berger, M. S., Huang, H. S., and Cavenee, W. K. Silencing of p16/CDKN2 expression in human gliomas by methylation and chromatin condensation. Cancer Res., 56: 2405-2410, 1996.
23. Lo, K. W., Cheung, S. T., Leung, S. F., van Hasselt, A., Tsang, Y. S., Mak, K. F., Chung, Y. F., Woo, J. K., Lee, J. C., and Huang, D. P. Hypermethylation of the p16 gene in nasopharyngeal carcinoma. Cancer Res., 56: 2721-2725, 1996.
24. INK4A characterize the major types of hematological malignancies. Cancer Res., 57: 837-841, 1997.
25. Levine, A. J. p53, the cellular gatekeeper for growth and division. Cell, 88: 323-331, 1997.
26. Koh, J., Enders, G. H., Dynlacht, B. D., and Harlow, E. Tumor-derived p16 alleles encoding proteins defective in cell-cycle inhibition. Nature (Lond.), 375: 506-510, 1995.
27. Lukas, J., Parry, D., Aagaard, L., Mann, D. J., Bartkova, J., Strauss, M., Peters, G., and Bartek, J. Retinoblastoma-protein-dependent cell-cycle inhibition by the tumor suppressor p16. Nature (Lond.), 375: 503-506, 1995.
28. Enders, G. H., Koh, J., Missero, C., Ristgi, A. K., and Harlow, E. p16 inhibition of transformed and primary squamous epithelial cells. Oncogene, 12: 1239-1245, 1996.
29. INK4A). Carcinogenesis (Lond.), 17: 1567-1575, 1996.
30. INK4/CDKN2 and p53 genes cooperate to induce tumor cell death. Nat. Med., 3: 313-319, 1995.
31. Balch, C. M., Houghton, A. N., and Peters, L. J. Cutaneous melanoma. In: V. T. DeVita, Jr., S. Hellman, and S. A. Rosenberg (eds.), Cancer: Principles & Practice of Oncology, pp. 1612-1661. Philadelphia: J. B. Lippincott Co., 1993.
32. Herman, J. G., Graff, J. R., Myoheanen, S., Nelkin, B. D., and Baylin, S. B. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc. Natl. Acad. Sci. USA, 93: 9821-9826, 1996.
33. Gonzalgo, M. L., and Jones, P. A. Rapid quantitation of methylation differences at specific sites using methylation-sensitive single nucleotide primer extension (Ms-SNuPE). Nucleic Acids Res., 25: 2529-2531, 1997.
34. Fountain, J. W., Karayiorgou, M., Taruscio, D., Graw, S. L., Buckler, A. J., Ward, D. C., Dracopoli, N. C., and Housman, D. E. Genetic and physical map of the Interferon region on chromosome 9p. Genomics, 14: 105-112, 1992.
35. Frommer, M., McDonald, L. E., Millar, D. S., Collis, C. M., Watt, F., Grigg, G. W., Molloy, P. L., and Paul, C. L. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc. Natl. Acad. Sci. USA, 89: 1827-1831, 1992.
36. Clark, S. J., Harrison, J., Paul, C. L., and Frommer, M. High sensitivity mapping of methylated cytosines. Nucleic Acids Res., 22: 2990-2997, 1994.
37. Hara, E., Smith, R., Parry, D., Tahara, H., Stone, S., and Peters, G. Regulation of p16/CDKN2 expression and its implications for cell immortalization and senescence. Mol. Cell. Biol., 16: 859-867, 1996.
38. Olopade, O. I., Homkala, H. M., Hagos, F., Sveen, L. W., Espinosa, R., III, Dreyling, M. H., Gursky, S., Stadler, W. M., Le Beau, M. M., and Bohlander, S. K. Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phorphorylase gene from the tumor suppressor region on 9p21. Proc. Natl. Acad. Sci. USA, 92: 6489-6493, 1995.
39. Walker, G. J., Palmer, J. M., Walters, M. K., Nancarrow, D. J., Parsons, P. G., and Hayward, N. K. Refined localization of the melanoma (MLM) gene on chromosome 9p by analysis of allelic deletions. Oncogene, 9: 819-824, 1994.
40. Walker, G. J., Palmer, J. M., Walters, M. K., and Hayward, N. K. A genetic model for melanoma tumorigenesis based on allelic deletions. Genes Chromosomes Cancer, 12: 134-141, 1995.
41. Serrano, M., Hannon, G. J., and Beach, D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature (Lond.), 366: 704-707, 1993.
42. Fitzgerald, M. G., Harkin, D. P., Silvia-Arrieta, S., MacDonald, D. J., Lucchina, L. C., Unsal, H., O'Neill, E., Koh, J., Finkelstein, D. M., Isselbacher, K. J., Sober, A. J., and Haber, D. A. Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc. Natl. Acad. Sci. USA, 93: 8541-8545, 1996.
43. INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science (Washington DC), 269: 1281-1285, 1995.
44. Stone, S., Jiang, P., Dayananth, P., Tavtigian, S. V., Katcher, H., Parry, D., Peters, G., and Kamb, A. Complex structure and regulation of the P16 (MTS1) locus. Cancer Res., 55: 2988-2994, 1995.
45. Gruis, N. A., Weaver-Feldhaus, J., Liu, Q., Frye, C., Eeles, R., Orlow, I., Lacombe, L., Ponce-Castenada, V., Lianes, P., Latres, E., Skolnick, M., Cordon-Cardo, C., and Kamb, A. Genetic evidence in melanoma and bladder cancer that p16 and p53 function in separate pathways of tumor suppression. Am. J. Pathol., 146: 1199-1206, 1995.
46. Piccinin, S., Doglioni, C., Maestro, T., Vukosavljevic, T., Gasparotto, D., Dorazi, C., and Boiocchi, M. p16/CDKN2 and CDK4 gene mutations in sporadic melanoma development and progression. Int. J. Cancer, 74: 26-30, 1997.
47. Knudson, A. G. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA, 68: 820-823, 1971.
48. Reed, J. A., Loganzo, F., Jr., Shea, C. R., Walker, G. J., Flores, J. F., Glendening, J. M., Bogdany, J. K., Shiel, M. J., Haluska, F. G., Fountain, J. W., and Albino, A. P. Loss of expression of the p16/cyclin-dependent kinase inhibitor 2 tumor suppressor gene in melanocytic lesions correlates with invasive stage of tumor progression. Cancer Res., 55: 2713-2718, 1995.
49. INK4 gene) during tumor progression in a sporadic melanoma patient. Cancer Res., 55: 5531-5535, 1995.
50. Puig, S., Ruiz, A., Lazaro, C., Castel, T., Lynch, M., Palou, J., Vilalta, A., Weissenbach, J., Mascaro, J-M., and Estivill, X. Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside of the p16 (CDKN2) gene. Am. J. Hum. Genet., 57: 395-402, 1995.