High incidence of allelic loss at 16q12.2 region spanning RBL2/p130 gene in retinoblastoma

Cancer Biology and Therapy

Volumn 8, Issue 8, 2009, Pages 714-717

  Priya, Kadam ^a   Jada, Srinivasa Rao ^a   Boon, Long Quah ^b   Thuan, Chong Quah ^c   Poh, San Lai ^a,d  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^c NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Allelic loss; Loss of heterozygosity; Mutation; RBL2 p130; Retinoblastoma; Tumor suppressor gene

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER GROWTH; CHILD; CHROMOSOME 16Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; EXON; FEMALE; GENE LOCUS; GENE LOSS; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; P130 GENE; PROTEIN DOMAIN; RETINOBLASTOMA; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 66149083996     PISSN: 15384047     EISSN: 15558576     Source Type: Journal    
DOI: 10.4161/cbt.8.8.7921     Document Type: Article

References (29)

1. Knudson AG Jr. Hereditary cancer, oncogenes and antioncogenes. Cancer Res 1985; 45:1437-1443 (Pubitemid 15079082)
2. van der Wal JE, Hermsen MA, Gille HJ, Schouten-Van Meeteren NJ, Moll AC, Imhof SM, et al. Comparative genomic hybridisation divides retinoblastomas into a high and a low level chromosomal instability group. J Clin Pathol 2003; 56:26-30. (Pubitemid 36132470)
3. Gratias S, Rieder H, Ullmann R, Klein-Hitpass L, Schneider S, Boloni R, et al. Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma. Cancer Res 2007; 67:408-416 (Pubitemid 46142800)
4. Mairal A, Pinglier E, Gilbert E, Peter M, Validire P, Desjardins L, et al. Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses. Gene Chrom Cancer 2000; 28:370-379 (Pubitemid 30451789)
5. Chen D, Gallie BL, Squire JA. Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization. Cancer Genet Cytogenet 2001; 129:57-63. (Pubitemid 32743381)
6. Lillington DM, Kingston JE, Coen PG, Price E, Hungerford J, Domizio P, et al. Comparative genomic hybridization of 49 primary retinoblastoma tumors identifies chromosomal regions associated with histopathology, progression and patient outcome. Gene Chrom Cancer 2003; 36:121-128 (Pubitemid 36109555)
7. Zielinski B, Gratias S, Toedt G, Mendrzyk F, Stange DE, Radlwimmer B, et al. Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization. Gene Chrom Cancer 2005; 43:294-301. (Pubitemid 40726874)
8. Bellan C, De Falco G, Tosi GM, Lazzi S, Ferrari F, Morbini G, et al. Missing expression of pRb2/p130 in human retinoblastomas is associated with reduced apoptosis and lesser differentiation. Invest Ophthalmol Vis Sci 2002; 43:3602-3608 (Pubitemid 35470592)
9. Tosi GM, Carmela T, Marcella M, Dario LS, Alfredo C, Stefano L, et al. Genetic and epigenetic alterations of RB2/p130 tumor suppressor gene in human sporadic retinoblastoma: implications for pathogenesis and therapeutic approach. Oncogene 2005; 24:5827-5836 (Pubitemid 43080074)
10. Bowles E, Corson TW, Bayani J, Squire JA, Wong N, Lai PB, et al. Profiling genomic copy number changes in retinoblastoma beyond loss of RB1. Genes Chromosomes Cancer 2007; 46:118-129
11. Hanahan D, Wienberg RA. The hallmarks of cancer. Cell 2000; 100:57-70. (Pubitemid 30046295)
12. Jenner MW, Leone PE, Walker BA, Ross FM, Johnson DC, Gonzalez D, et al. Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma. Blood 2007; 110:3291-3300 (Pubitemid 350106322)
13. Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, et al. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Hum Genet 2000; 106:58-65. (Pubitemid 30156395)
14. Sheu JC, Lin YW, Chou HC, Huang GT, Lee HS, Lin YH, et al. Loss of heterozygosity and microsatellite instability in hepatocellular carcinoma in Taiwan. Br J Cancer 1999; 80:468-476 (Pubitemid 29213202)
15. +) are associated with p16/pRb loss and wildtype p53. J Cancer Res Clin Oncol 2001; 127:603-612
16. Altura RA, Maris JM, Li H, Boyett JM, Brodeur GM, Look AT. Novel regions of chromosomal loss in familial neuroblastoma by comparative genomic hybridization. Genes Chromosome Cancer 1997; 19:176-184 (Pubitemid 27278805)
17. Mitelman F, Mertens F, Johansson B. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet 1997; 15:417-474 (Pubitemid 27224668)
18. Herzog S, Lohmann DR, Buiting K, Schuler A, Horsthemke B, Rehder H, et al. Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization. Hum Genet 2001; 108:98-104. (Pubitemid 32215367)
19. Cinti C, Claudio PP, Howard CM, Neri LM, Fu Y, Leoncini L, et al. Genetic alterations disrupting the nuclear localization of the retinoblastoma-related gene RB2/p130 in human tumor cell lines and primary tumors. Cancer Res 2000; 602:383-389 (Pubitemid 30070766)
20. Klumb CE, Magluta EPS, Rezende LM, Apa AG, Alonso JFS, Maia RC. Retinoblastomarelated gene Rb2/P130 are rarely mutated in burkitt's lymphoma from Brazil. Am J Hematol 2007; 82:238-239 (Pubitemid 46363794)
21. Alvi AJ, Hogg R, Rader JS, Kuo MJ, Maher ER, Latif F. Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer. Mol Pathol 2002; 55:153-155 (Pubitemid 34620764)
22. Gonzalez-Gomez P, Bello MJ, Arjona D, Alonso ME, Lomas J, De Campos JM, et al. Retinoblastoma-related gene RB2/p130 exons 19-22 are rarely mutated in glioblastomas. Oncol Rep 2002; 9:951-954
23. Hoe SL, Sam CK. Mutational analysis of p53 and RB2/p130 genes in Malaysian nasopharyngeal carcinoma samples: a preliminary report. Malays J Pathol 2006; 28:35-39
24. D'Andrilli G, Masciullo V, Bagella L, Tonini T, Minimo C, Zannoni GF, et al. Frequent loss of pRb2/p130 in human ovarian carcinoma. Clin Cancer Res 2004; 10:3098-3103 (Pubitemid 38619689)
25. MacPherson D, Conkrite K, Tam M, Mukai S, Mu D, Jacks T. Murine bilateral retinoblastoma exhibiting rapid-onset, metastatic progression and N-myc gene amplification. EMBO J 2007; 26:784-794 (Pubitemid 46253833)
26. De Falco G, Leucci E, Lenze D, Piccaluga PP, Claudio PP, Onnis A, et al. Gene-expression analysis identifies novel RBL2/p130 target genes in endemic Burkitt lymphoma cell lines and primary tumors. Blood 2007; 110:1301-1307 (Pubitemid 47281429)
27. Lai PS, Cheah PY, Kadam P, Chua CL, Lie DK, Li HH, et al. Overexpression of RB1 transcript is significantly correlated with 13q14 allelic imbalance in colorectal carcinomas. Int J cancer 2006; 119:1061-1066 (Pubitemid 44116913)
28. Choy KW, Pang CP, Yu CB, Wong HL, Ng JS, Fan DS, et al. Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma. Hum Mutat 2002; 20:408.
29. Scholes AG, Liloglou T, Maloney P, Hagan S, Nunn J, Hiscott 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