ABSTRACT
Retinoblastoma is the most common intraocular malignancy in young children, arising in approximately 1 per 20,000 live births. Although it is established that the functional loss of both alleles of the RB1 gene is a prerequisite for the development of retinoblastoma, little is known about the genetic events that are required for tumor progression. To screen the genomic aberrations, two retinoblastoma cell lines, Y-79 and WERI-Rb-1, were analysed by using array-CGH. As a result, gains of AHRR, EXOC3, CEP72, TRIP13, TERT, SEMA5A, TAS2R1, MARCH6, CTNND2, CDH12, NHLRC1, TPMT, AOF1, FANCC, NCBP1, XPA, TGFBR1, BAAT, MRPL50, ZNF189, ALDOB, ABCA1, FCMD, TAL2, ZNF462, COL27A1, ORM1, ORM2, AKNA, ASTN2, TRIM32, GSN, STOM, LHX2, PBX3, ABL1, FIBCD1, WNK4, CCDC56, CNT1, BECN1, PSME3, AOC2, LOXHD1, ST8SIA5, SMAD2, KIAA0427, COL18A1, COL6A2, FTCD and LSS were found in both cell lines. Lost clones detected in both cell lines were RB1, ZDHHC3, EXOSC7, CLEC3B, CACNA2D3, DEFB106A, FAM90A6P, FAM90A7, ZMYND11, LARP5, GTPBP4, IDI2, IDI1, KLF6, AKR1CL2, FBXO18, IL15RA, IL2RA, TAF3, GATA3, CUGBP2, DHTKD1, SEC61A2, NUDT5, ITGA8, PTER, C1QL3, RSU1, DNMT2, PTPLA, PLXDC2, NEBL, MLLT10, DNAJC1, PIP5K2A, PRTFDC1, NRP1, PARD3, MGMT, RFP2OS, RFP2, KCNRG, IGHV, CDH19, TXNDC10 and RTTN. Through this study, it is confirmed that many genomic aberrations are involved in the development and progression of retinoblastoma. Genomic profiling of retinoblastoma cell lines by array-CGH revealed numerous imbalanced regions and novel candidate genes. These data provide a basis for more detailed molecular characterization and testing their pathologic roles of these candidates.