Whole-genome microarray detects deletions and loss of heterozygosity of chromosome 3 occurring exclusively in metastasizing uveal melanoma

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 10, 2010, Pages 4884-4891

  Lake, Sarah L ^a   Coupland, Sarah E ^a   Taktak, Azzam F G ^b   Damato, Bertil E ^b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 3; CLINICAL ARTICLE; COPY NUMBER VARIATION; DISOMY; DISOMY 3; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOME ANALYSIS; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; METASTASIS; MICROARRAY ANALYSIS; MONOSOMY; MONOSOMY 3; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR CLASSIFICATION; UVEA MELANOMA; DNA MICROARRAY; DNA SEQUENCE; GENE EXPRESSION PROFILING; GENETICS; HUMAN GENOME; MELANOMA; METHODOLOGY; MIDDLE AGED; PATHOLOGY; POLYMERASE CHAIN REACTION; UVEA TUMOR;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENE EXPRESSION PROFILING; GENOME, HUMAN; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MELANOMA; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; UVEAL NEOPLASMS;

EID: 77958149836     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-5083     Document Type: Article

References (46)

1. Augsburger JJ, Correa ZM, Shaikh AH. Quality of evidence about effectiveness of treatments for metastatic uveal melanoma. Trans Am Ophthalmol Soc. 2008;106:128-135, discussion 135-127.
2. Peters S Voelter V, Zografos L, et al. Intra-arterial hepatic fotemustine for the treatment of liver metastases from uveal melanoma: experience in 101 patients. Ann Oncol 2006;17:578-583.
3. Damato B, Duke C, Coupland SE, et al. Cytogenetics of uveal melanoma: a 7-year clinical experience. Ophthalmology. 2007; 114:1925-1931.
4. Mooy CM, De Jong PT. Prognostic parameters in uveal melanoma: a review. Surv Ophthalmol. 1996;41:215-228.
5. Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jockel KH, Becher R. Prognostic implications of monosomy 3 in uveal melanoma. Lancet. 1996;347:1222-1225.
6. Damato BE, Dopierala J, Klaasen A, van Dijk M, Sibbring J, Coupland S. Multiplex ligation-dependent probe amplification of uveal melanoma: correlation with metastatic death. Invest Ophthalmol Vis Sci. 2009;50:3048-3055.
7. Hausler T, Stang A, Anastassiou G, et al. Loss of heterozygosity of 1p in uveal melanomas with monosomy 3. Int J Cancer. 2005;116: 909-913.
8. Kilic E, Naus NC, van Gils W, et al. Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients. Invest Ophthalmol Vis Sci. 2005; 46:2253-2257.
9. Mensink HW, Kilic E, Vaarwater J, Douben H, Paridaens D, de Klein A. Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome. Cancer Genet Cytogenet. 2008;181: 108-111.
10. White VA, McNeil BK, Horsman DE. Acquired homozygosity (isodisomy) of chromosome 3 in uveal melanoma. Cancer Genet Cytogenet. 1998;102:40-45.
11. Damato B, Coupland SE. Translating uveal melanoma cytogenetics into clinical care. Arch Ophthalmol. 2009;127:423-429.
12. Cross NA, Ganesh A, Parpia M, Murray AK, Rennie IG, Sisley K. Multiple locations on chromosome 3 are the targets of specific deletions in uveal melanoma. Eye. 2006;20:476-481.
13. Parrella P, Fazio VM, Gallo AP, Sidransky D, Merbs SL. Fine mapping of chromosome 3 in uveal melanoma: identification of a minimal region of deletion on chromosomal arm 3p25.1-p25.2. Cancer Res. 2003;63:8507-8510.
14. Scholes AG, Liloglou T, Maloney P, et al. Loss of heterozygosity on chromosomes 3, 9, 13, and 17, including the retinoblastoma locus, in uveal melanoma. Invest Ophthalmol Vis Sci. 2001;42:2472-2477.
15. Tschentscher F, Prescher G, Horsman DE, et al. Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. Cancer Res. 2001;61:3439-3442.
16. Dopierala J, Damato BE, Lake SL, Taktak AFG, Coupland SE. Genetic heterogeneity in uveal melanoma assessed by multiplex ligation- dependent probe amplification. Invest Ophthalmol Vis Sci. Published online May 19, 2009.
17. van Dongen JJ, Langerak AW, Bruggemann M, et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia. 2003;17:2257-2317.
18. Kivela T, Coupland SE, McGowan H, et al. Malignant melanoma of the uvea. AJCC Cancer Staging Manual. 7th ed. New York: Springer Science and Business Media; 2010:Chapter 43.
19. McLean IW, Foster WD, Zimmerman LE, Gamel JW. Modifications of Callender's classification of uveal melanoma at the Armed Forces Institute of Pathology. Am J Ophthalmol. 1983;96:502-509.
20. Onken MD, Worley LA, Person E, Char DH, Bowcock AM, Harbour JW. Loss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Res. 2007;13:2923-2927.
21. Pekarsky Y, Palamarchuk A, Huebner K, Croce CM. FHIT as tumor suppressor: mechanisms and therapeutic opportunities. Cancer Biol Ther. 2002;1:232-236.
22. Pekarsky Y, Zanesi N, Palamarchuk A, Huebner K, Croce CM. FHIT: from gene discovery to cancer treatment and prevention. Lancet Oncol. 2002;3:748-754.
23. Parrella P, Caballero OL, Sidransky D, Merbs SL. Detection of c-myc amplification in uveal melanoma by fluorescent in situ hybridization. Invest Ophthalmol Vis Sci. 2001;42:1679-1684.
24. Singh AD, Tubbs R, Biscotti C, Schoenfield L, Trizzoi P. Chromosomal 3 and 8 status within hepatic metastasis of uveal melanoma. Arch Pathol Lab Med. 2009;133:1223-1227.
25. Harris NL, Stein H, Coupland SE, et al. New approaches to lymphoma diagnosis. Hematology Am Soc Hematol Educ Program. 2001;194-220.
26. Kilic E, van Gils W, Lodder E, et al. Clinical and cytogenetic analyses in uveal melanoma. Invest Ophthalmol Vis Sci. 2006;47: 3703-3707.
27. Mourtada-Maarabouni M, Keen J, Clark J, Cooper CS, Williams GT. Candidate tumor suppressor LUCA-15/RBM5/H37 modulates expression of apoptosis and cell cycle genes. Exp Cell Res. 2006;312: 1745-1752.
28. Oh JJ, Razfar A, Delgado I, et al. 3p21.3 tumor suppressor gene H37/Luca15/RBM5 inhibits growth of human lung cancer cells through cell cycle arrest and apoptosis. Cancer Res. 2006;66: 3419-3427.
29. Dallol A, Forgacs E, Martinez A, et al. Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers. Oncogene. 2002;21:3020-3028.
30. Yue W, Dacic S, Sun Q, et al. Frequent inactivation of RAMP2, EFEMP1 and Dutt1 in lung cancer by promoter hypermethylation. Clin Cancer Res. 2007;13:4336-4344.
31. Ghosh S, Ghosh A, Maiti GP, et al. Alterations of ROBO1/DUTT1 and ROBO2 loci in early dysplastic lesions of head and neck: clinical and prognostic implications. Hum Genet. 2009;125:189-198.
32. Grone J, Doebler O, Loddenkemper C, Hotz B, Buhr HJ, Bhargava S. Robo1/Robo4: differential expression of angiogenic markers in colorectal cancer. Oncol Rep. 2006;15:1437-1443.
33. Ito H, Funahashi S, Yamauchi N, et al. Identification of ROBO1 as a novel hepatocellular carcinoma antigen and a potential therapeutic and diagnostic target. Clin Cancer Res. 2006;12:3257-3264.
34. Stella MC, Trusolino L, Comoglio PM. The Slit/Robo system suppresses hepatocyte growth factor-dependent invasion and morphogenesis. Mol Biol Cell. 2009;20:642-657.
35. Jiang Y, Zou L, Zhang C, et al. PPARgamma and Wnt/beta-Catenin pathway in human breast cancer: expression pattern, molecular interaction and clinical/prognostic correlations. J Cancer Res Clin Oncol. 2009;135:1551-1559.
36. Nakamura Y, Suzuki T, Sugawara A, Arai Y, Sasano H. Peroxisome proliferator-activated receptor gamma in human prostate carcinoma. Pathol Int. 2009;59:288-293.
37. Garcia-Bates TM, Peslak SA, Baglole CJ, Maggirwar SB, Bernstein SH, Phipps RP. Peroxisome proliferator-activated receptor gamma overexpression and knockdown: impact on human B cell lymphoma proliferation and survival. Cancer Immunol Immunother. 2009;58:1071-1083.
38. Ogino S, Shima K, Baba Y, et al. Colorectal cancer expression of peroxisome proliferator-activated receptor gamma (PPARG, PPARgamma) is associated with good prognosis. Gastroenterology. 2009;136:1242-1250.
39. Pancione M, Forte N, Sabatino L, et al. Reduced beta-catenin and peroxisome proliferator-activated receptor-gamma expression levels are associated with colorectal cancer metastatic progression: correlation with tumor-associated macrophages, cyclooxygenase 2, and patient outcome. Hum Pathol. 2009;40:714-725.
40. Smith AG, Beaumont KA, Smit DJ, et al. PPARgamma agonists attenuate proliferation and modulate Wnt/beta-catenin signalling in melanoma cells. Int J Biochem Cell Biol. 2009;41:844-852.
41. Zuidervaart W, Pavey S, van Nieuwpoort FA, et al. Expression of Wnt5a and its downstream effector beta-catenin in uveal melanoma. Melanoma Res. 2007;17:380-386.
42. Chana JS, Cree IA, Foss AJ, Hungerford JL, Wilson GD. The prognostic significance of c-myc oncogene expression in uveal melanoma. Melanoma Res. 1998;8:139-144.
43. Chana JS, Wilson GD, Cree IA, et al. c-myc, p53, and Bcl-2 expression and clinical outcome in uveal melanoma. Br J Ophthalmol. 1999;83:110-114.
44. Ehlers JP, Worley L, Onken MD, Harbour JW. DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. Clin Cancer Res. 2005;11:3609-3613.
45. Trolet J, Hupe P, Huon I, et al. Genomic profiling and identification of high risk uveal melanoma by array CGH analysis of primary tumors and liver metastases. Invest Ophthalmol Vis Sci. 2009;50: 2572-2580.
46. Blasi MA, Roccella F, Balestrazzi E, et al. 3p13 region: a possible location of a tumor suppressor gene involved in uveal melanoma. Cancer Genet Cytogenet. 1999;108:81-83.