Frequent p16-independent inactivation of p14ARF in human melanoma

Journal of the National Cancer Institute

Volumn 100, Issue 11, 2008, Pages 784-795

  Freedberg, Daniel E ^a   Rigas, Sushila H ^b   Russak, Julie ^a   Gai, Weiming ^a   Kaplow, Margarita ^a   Osman, Iman ^a   Turner, Faye ^b   Randerson Moor, Juliette A ^b   Houghton, Alan ^c   Busam, Klaus ^c   Timothy Bishop, D ^b   Bastian, Boris C ^d   Newton Bishop, Julia A ^b   Polsky, David ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR 1; ARF PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; PROTEIN P16; ZEBULARINE;

ARTICLE; CANCER INHIBITION; CARCINOGENESIS; CHROMOSOME 9P; CONTROLLED STUDY; DNA ISOLATION; EPIGENETICS; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MELANOMA; MELANOMA CELL; METASTASIS; METHYLATION; MULTIPLEX POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; CELL LINE, TUMOR; CHROMOSOMES, HUMAN, PAIR 9; DNA METHYLATION; GENE DELETION; GENE SILENCING; GENES, P16; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MELANOMA; MELANOMA, EXPERIMENTAL; MICE; MICROSATELLITE REPEATS; MUTATION; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); TUMOR SUPPRESSOR PROTEIN P14ARF;

EID: 44949106363     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djn157     Document Type: Article

References (52)

1. Pomerantz J, Schreiber-Agus N, Liegeois NJ, et al. The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2?s inhibition of p53. Cell. 1998;92(6):713-723.
2. Zhang Y, Xiong Y, Yarbrough WG. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell. 1998;92(6):725-734.
3. Sherr CJ. The Pezcoller lecture: cancer cell cycles revisited. Cancer Res. 2000;60(14):3689-3695.
4. Straume O, Smeds J, Kumar R, Hemminki K, Akslen LA. Significant impact of promoter hypermethylation and the 540 C>T polymorphism of CDKN2A in cutaneous melanoma of the vertical growth phase. Am J Pathol. 2002;161(1):229-237.
5. Bastian BC, LeBoit PE, Hamm H, Brocker EB, Pinkel D. Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res. 1998;58(10):2170-2175.
6. Flores JF, Walker GJ, Glendening JM, et al. Loss of the p16INK4a and p15INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma. Cancer Res. 1996;56(21):5023-5032.
7. Kamb A, Gruis NA, Weaver-Feldhaus J, et al. A cell cycle regulator potentially involved in genesis of many tumor types [see comments]. Science. 1994;264(5157):436-440.
8. Platz A, Hansson J, Mansson-Brahme E, et al. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst. 1997;89(10):697-702.
9. Aitken J, Welch J, Duffy D, et al. CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst. 1999;91(5):446-452.
10. Harland M, Meloni R, Gruis N, et al. Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Genet. 1997;6(12):2061-2067.
11. Della Torre G, Pasini B, Frigerio S, et al. CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. Br J Cancer. 2001;85(6):836-844.
12. Sharpless E, Chin L. The INK4a/ARF locus and melanoma. Oncogene. 2003;22(20):3092-3098.
13. Huot TJ, Rowe J, Harland M, et al. Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts. Mol Cell Biol. 2002;22(23):8135-8143.
14. Laud K, Marian C, Avril MF, et al. Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. J Med Genet. 2006;43(1):39-47.
15. Mistry SH, Taylor C, Randerson-Moor JA, et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005;44(3):292-300.
16. Randerson-Moor JA, Harland M, Williams S, et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001;10(1):55-62.
17. Hewitt C, Lee Wu C, Evans G, et al. Germline mutation of ARF in a melanoma kindred. Hum Mol Genet. 2002;11(11):1273-1279.
18. Rizos H, Puig S, Badenas C, et al. A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene. 2001;20(39):5543- 5547.
19. Harland M, Taylor CF, Chambers PA, et al. A mutation hotspot at the p14ARF splice site. Oncogene. 2005;24(28):4604-4608.
20. Ha L, Ichikawa T, Anver M, et al. ARF functions as a melanoma tumor suppressor by inducing p53-independent senescence. Proc Natl Acad Sci USA. 2007;104(26):10968-10973.
21. Krassenstein R, Sauter E, Dulaimi E, et al. Detection of breast cancer in nipple aspirate fluid by CpG island hypermethylation. Clin Cancer Res. 2004;10(1 pt 1):28-32.
22. Esteller M, Tortola S, Toyota M, et al. Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Res. 2000;60(1):129-133.
23. Rousseau E, Ruchoux MM, Scaravilli F, et al. CDKN2A, CDKN2B and p14ARF are frequently and differentially methylated in ependymal tumours. Neuropathol Appl Neurobiol. 2003;29(6):574-583.
24. FitzGerald MG, Harkin DP, Silva-Arrieta S, et al. Prevalence of germline mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA. 1996;93(16):8541-8545.
25. Kamb A, Shattuck-Eidens D, Eeles R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet. 1994;8(1):23-26.
26. Hussussian CJ, Struewing JP, Goldstein AM, et al. Germline p16 mutations in familial melanoma. Nat Genet. 1994;8(1):15-21.
27. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30((12):e57.
28. Hogervorst FB, Nederlof PM, Gille JJ, et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res. 2003;63(7):1449-1453.
29. Albino AP, Vidal MJ, McNutt NS, et al. Mutation and expression of the p53 gene in human malignant melanoma. Melanoma Res. 1994;4(1):35-45.
30. Soengas MS, Capodieci P, Polsky D, et al. Inactivation of the apoptosis effector Apaf-1 in malignant melanoma. Nature. 2001;409(6817):207-211.
31. Castresana JS, Rubio MP, Vazquez JJ, et al. Lack of allelic deletion and point mutation as mechanisms of p53 activation in human malignant melanoma. Int J Cancer. 1993;55(4):562-565.
32. Curtin JA, Fridlyand J, Kageshita T, et al. Distinct sets of genetic alterations in melanoma. N Engl J Med. 2005;353(20):2135-2147.
33. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA. 1996;93(18):9821-9826.
34. Yoo CB, Cheng JC, Jones PA. Zebularine: a new drug for epigenetic therapy. Biochem Soc Trans. 2004;32(pt 6):910-912.
35. Stott FJ, Bates S, James MC, et al. The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. Embo J. 1998;17(17):5001-5014.
36. Caldas C, Hahn SA, da Costa LT, et al. Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nat Genet. 1994;8(1):27-32.
37. Gretarsdottir S, Olafsdottir GH, Borg A. Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online. Hum Mutat. 1998;12(3):212.
38. Cairns P, Mao L, Merlo A, et al. Rates of p16 (MTS1) mutations in primary tumors with 9p loss. Science. 1994;265(5170):415-7.
39. Gruis NA, Weaver-Feldhaus J, Liu Q, et al. Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression. Am J Pathol. 1995;146(5):1199-206.
40. Esteve A, Martel-Planche G, Sylla BS, Hollstein M, Hainaut P, Montesano R. Low frequency of p16/CDKN2 gene mutations in esophageal carcinomas. Int J Cancer. 1996;66(3):301-304.
41. Polsky D, Young AZ, Busam KJ, Alani RM. The transcriptional repressor of p16/Ink4a, Id1, is up-regulated in early melanomas. Cancer Res. 2001;61(16):6008-6011.
42. Grafstrom E, Egyhazi S, Ringborg U, Hansson J, Platz A. Biallelic deletions in INK4 in cutaneous melanoma are common and associated with decreased survival. Clin Cancer Res. 2005;11(8):2991-2997.
43. Dominguez G, Carballido J, Silva J, et al. p14ARF promoter hypermethylation in plasma DNA as an indicator of disease recurrence in bladder cancer patients. Clin Cancer Res. 2002;8(4):980-985.
44. Fujii H, Marsh C, Cairns P, Sidransky D, Gabrielson E. Genetic divergence in the clonal evolution of breast cancer. Cancer Res. 1996;56(7):1493-1497.
45. Nakayama T, Taback B, Turner R, Morton DL, Hoon DS. Molecular clonality of in-transit melanoma metastasis. Am J Pathol. 2001;158(4):1371-1378.
46. Baisse B, Bouzourene H, Saraga EP, Bosman FT, Benhattar J. Intratumor genetic heterogeneity in advanced human colorectal adenocarcinoma. Int J Cancer. 2001;93(3):346-352.
47. Gonzalgo ML, Bender CM, You EH, et al. Low frequency of p16/CDKN2A methylation in sporadic melanoma: comparative approaches for methylation analysis of primary tumors. Cancer Res. 1997;57(23):5336-5347.
48. van der Velden PA, Metzelaar-Blok JA, Bergman W, et al. Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res. 2001;61(13):5303-5306.
49. Krimpenfort P, Quon KC, Mooi WJ, Loonstra A, Berns A. Loss of p16Ink4a confers susceptibility to metastatic melanoma in mice. Nature. 2001;413(6851):83-86.
50. Sharpless NE, Bardeesy N, Lee KH, et al. Loss of p16Ink4a with retention of p19Arf predisposes mice to tumorigenesis. Nature. 2001;413(6851):86- 91.
51. Krimpenfort P, Quon KC, Mooi WJ, Loonstra A, Berns A. Loss of p16Ink4a confers susceptibility to metastatic melanoma in mice. Nature. 2001;413(6851):83-86.
52. Li W, Sanki A, Karim RZ, et al. The role of cell cycle regulatory proteins in the pathogenesis of melanoma. Pathology. 2006;38(4):287-301.