N-myc amplified in retinoblastoma cell line FMC-RB1

Seshadri, Ram; Matthews, Chris; Norris, Murray D.; Brian, Michael J.

doi:10.1016/0165-4608(88)90045-3

Cited by 7 publications

(8 citation statements)

References 4 publications

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“…All gains at 2p include chromosome band 2p24, the location of the MYCN gene. However, distinct highlevel gains at 2p24 indicative of a MYCN gene amplification, which has been described in 2%-17% of Rb, have not been observed (Lee et al 1984;Sakai et al 1985;Squire et al 1986;Seshadri et al 1988;Doz et al 1996;Mairal et al 2000). Four of our cases demonstrate gains at 17q23q25.…”

Section: Discussionmentioning

confidence: 78%

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Herzog¹,

Lohmann²,

Buiting³

et al. 2001

Human Genetics

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Although it is established that the loss of function 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. We used comparative genomic hybridization (CGH) to search for DNA copy number changes in isolated unilateral retinoblastomas. From a series of 66 patients with retinoblastomas with somatic mutations in both RB1 alleles, tumor samples from 13 children with the youngest (2.0-9.8 months) and 13 with the oldest (36.2-84.1 months) age at operation were studied. Loss at 13q14, the location of RB1, was demonstrated in two tumors only. Recurring chromosome imbalances included gains at 6p (11/26), 1q (10/26), 2p (4/26), and 17q (4/26), gains of the entire chromosome 19 (3/26), and losses at 16q (9/26). A commonly gained region at 1q32 was identified. Increased dosage of GAC1, a candidate oncogene located in 1q32, was found in two of four tumors by Southern blot analysis. Comparison of the CGH findings revealed that retinoblastomas from children with an older age at operation showed significantly more frequent (13/13 cases vs 4/13 cases; P = 0.0005) and more complex genetic abnormalities (median, 5 changes/abnormal tumor vs median, 1.5 changes/abnormal tumor; P = 0.003) than retinoblastomas from children with a young age at operation. Gains at 1q, 2p, 17q, of the entire chromosome 19 and losses of 16q were restricted to the older age group. Our results suggest that the progression of retinoblastomas from older patients follows mutational pathways different from those of younger patients.

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Section: Discussionmentioning

confidence: 78%

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Herzog¹,

Lohmann²,

Buiting³

et al. 2001

Human Genetics

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“…This gene has not been comprehensively screened for mutation in retinoblastoma, although we show diploid copy number by QM-PCR in 25 retinoblastoma samples (Bowles et al, 2007). However, occasional abnormalities in chromosome 17q are noted (Squire et al, 1984;Seshadri et al, 1988;Oliveros and Yunis, 1995;Chen et al, 2001); perhaps inactivation through genomic rearrangement is a rare mechanism of NGFR loss of expression, while mutation or dysregulation may be more common.…”

Section: Other Genomic Changesmentioning

confidence: 83%

“…However, there is no evidence for clinical correlation with MYCN amplification (Lillington et al, 2002), although amplification detected by semiquantitative PCR associates with high proliferative index (Kim et al, 1999). The finding of MYCN amplification in a cell line (FMC-RB1) from a rapidly fatal retinoblastoma suggests that MYCN amplification might be associated with distant metastases (Seshadri et al, 1988); this is also suggested by the higher frequency of Mycn amplification in metastatic murine retinal tumors (Macpherson et al, 2007).…”

Section: Recurrent Gains On 2p: Mycn and Ddx1mentioning

confidence: 95%

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma

Corson

Gallie

2007

Genes Chromosomes & Cancer

234

215

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The childhood eye cancer retinoblastoma is initiated by the loss of both alleles of the prototypic tumor suppressor gene, RB1. However, a large number of cytogenetic and comparative genomic hybridization (CGH) studies have shown that these M1 and M2 mutational events--although necessary for initiation--are not the only genomic changes in retinoblastoma. Some of these subsequent changes, which we have termed M3 to Mn, are likely crucial for tumor progression not only in retinoblastoma but also in other cancers. Moreover, genes showing genomic change in cancer are more stable markers and, therefore, possible therapeutic targets than genes simply differentially expressed. In this review, we provide the first comprehensive summary of the genomic evidence implicating gain of 1q, 2p, 6p, and 13q, and loss of 16q in retinoblastoma oncogenesis, including karyotype, CGH, and microarray CGH data. We discuss the search for candidate oncogenes and tumor suppressor genes within these regions, including the candidates (KIF14, MDM4, MYCN, E2F3, DEK, CDH11, and others), plus associations between genomic changes and clinical parameters. We also review studies of other regions of the retinoblastoma genome, the epigenetic changes of aberrant methylation of MGMT, RASSF1A, CASP8, and MLH1, and the roles microRNAs might play in this cancer. Although many candidate genes have yet to be functionally validated in retinoblastoma, work in this field lays out a molecular cytogenetic pathway of retinoblastoma development. Candidate cancer genes carry diagnostic, prognostic, and therapeutic implications beyond retinoblastoma.

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“…In addition, double-minute chromosomes and homogeneously staining regions (hsr), related to amplification of the MYCN and INT1 oncogenes, have been reported in a few tumors (Lee et al, 1984;Sakai et al, 1985;Arheden et al, 1988;Seshadri et al, 1988;Godbout and Squire, 1993). To identify these imbalances more precisely, especially the incidence and the nature of amplifications, which are potential prognostic markers, we have undertaken a combined study, by conventional cytogenetics and by comparative genomic hybridization (CGH), of 20 retinoblastomas.…”

Section: Introductionmentioning

confidence: 99%

Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses

Mairal

Pinglier

Gilbert

et al. 2000

Genes Chromosom. Cancer

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N-myc amplified in retinoblastoma cell line FMC-RB1

Cited by 7 publications

References 4 publications

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma

Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses

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