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

Mairal, Aline; Pinglier, E; Gilbert, Elisabeth; Peter, Martine; Validire, Pierre; Desjardins, Laurence; Doz, François; Aurias, Alain; Couturier, Jérôme

doi:10.1002/1098-2264(200008)28:4<370::aid-gcc2>3.0.co;2-8

Cited by 77 publications

(53 citation statements)

References 28 publications

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“…Two of the three patients (026 and 054) were diagnosed at less than 12 months (7 and 3 months, respectively) whilst the third patient (050) presented at 67 months. Contrary to the findings by Mairal et al (2000) that tumours with amplification of N-MYC show mild differentiation, all three tumours studied here were poorly differentiated. All three patients are alive at 108 (026), 65 (050) and 54 (054) factors thereby strengthening a lack of association of multiple copies of N-MYC with poor outcome.…”

Section: Resultscontrasting

confidence: 99%

High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours

et al. 2002

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Twenty-five primary retinoblastoma tumours were analysed by real-time quantitative polymerase chain reaction to determine the genomic copy number of the N-MYC gene (2p24) relative to the copy number for REL, B2M, ALB, AF10 and MLL. Twenty-one of these tumours were shown by Comparative Genomic Hybridization to contain variable copy number increases of chromosomal material mapping to 2p. High level amplification (430-fold) of N-MYC was found in three tumours, none of which showed adverse histological features and all patients are surviving at between 54 and 108 months post enucleation. Furthermore, the three tumours associated with metastasis and adverse patient outcome showed normal N-MYC copy number. Although high level amplification of N-MYC is an unfavourable prognostic indicator in neuroblastoma, these data show no evidence of a correlation between amplification of N-MYC and adverse outcome in retinoblastoma.

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Section: Resultscontrasting

confidence: 99%

High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours

et al. 2002

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“…The most prevalent karyotypic abnormality in retinoblastoma is gain of portions of the long arm of chromosome 1, seen in 21 of 27 tumors (Squire et al, 1985). At the higher resolution of comparative genomic hybridization (CGH), gain of a minimal region spanning 1q31 is the most common change seen in retinoblastoma in our study (Chen et al, 2001), and was seen cumulatively in 76/162 (47%) tumors across five published studies ( Figure 1a) (Mairal et al, 2000;Chen et al, 2001;Herzog et al, 2001;Lillington et al, 2002;van der Wal et al, 2003).…”

Section: Introductionmentioning

confidence: 47%

KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers

et al. 2005

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Gain of chromosome 1q31-1q32 is seen in >50% of retinoblastoma and is common in other tumors. To define the minimal 1q region of gain, we determined genomic copy number by quantitative multiplex PCR of 14 sequence tagged sites (STSs) spanning 1q25.3-1q41. The most frequently gained STS at 1q32.1 (71%; 39 of 55 retinoblastoma) defined a 3.06 Mbp minimal region of gain between flanking markers, containing 14 genes. Of these, only KIF14, a putative chromokinesin, was overexpressed in various cancers by real-time RT-PCR. KIF14 mRNA was expressed in 20/22 retinoblastoma samples 100-1000-fold higher than in retina (t-test P ¼ 0.00002); cell lines (n ¼ 10) had higher levels than tumors (n ¼ 12) (P ¼ 0.009). KIF14 protein was overexpressed in retinoblastoma tumors and breast cancer cell lines by immunoblot. KIF14 was expressed in 4/4 breast cancer cell lines 31-92-fold higher than in normal breast tissue, in 5/5 medulloblastoma cell lines 22-79-fold higher than in fetal brain, and in 10/22 primary lung tumors 3-34-fold higher than in normal lung. Patients with lung tumors that overexpress KIF14 showed a trend toward decreased survival. KIF14 may thus be important in oncogenesis, and has promise as a prognostic indicator and therapeutic target.

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“…Gains or ampli®cations along the long arm of chromosome 1 are found in leukaemias and solid tumours, and are among the most common chromosomal anomalies in human neoplasia (Alers et al, 2000;Kiechle et al, 2000;Mairal et al, 2000;Malamou-Mitsi et al, 1999;Matthews et al, 2000;Weber et al, 2000a,b). Local gain or high-level ampli®cation a ecting mainly 1q21-q23 has been reported for breast cancer cell lines (1q21-q32) (Larramendy et al, 2000), hepatocellular carcinomas (1q12-q22) (Guan et al, 2000), retinoblastomas (1q21) (Mairal et al, 2000) and sarcomas (Forus et al, 1995a,b;Szymanska et al, 1997;Tarkkanen et al, 1995), and is of particular interest since they appear more frequently in aggressive tumours with metastatic potential (Alers et al, 2000;Gronwald et al, 1997;Tarkkanen et al, 1999) and resistance to chemotherapy (Kudoh et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

“…Local gain or high-level ampli®cation a ecting mainly 1q21-q23 has been reported for breast cancer cell lines (1q21-q32) (Larramendy et al, 2000), hepatocellular carcinomas (1q12-q22) (Guan et al, 2000), retinoblastomas (1q21) (Mairal et al, 2000) and sarcomas (Forus et al, 1995a,b;Szymanska et al, 1997;Tarkkanen et al, 1995), and is of particular interest since they appear more frequently in aggressive tumours with metastatic potential (Alers et al, 2000;Gronwald et al, 1997;Tarkkanen et al, 1999) and resistance to chemotherapy (Kudoh et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21

et al. 2002

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Gains of 1q21-q23 have been associated with metastasis and chemotherapy response, particularly in bladder cancer, hepatocellular carcinomas and sarcomas. By positional cloning of ampli®ed genes by yeast arti®cial chromosome-mediated cDNA capture using magnetic beads, we have identi®ed three candidate genes (COAS1, -2 and -3) in the ampli®ed region in sarcomas. COAS1 and -2 showed higher ampli®cation levels than COAS3. Most notably, ampli®cation was very common in osteosarcomas, where in particular COAS2 was highly expressed. COAS1 has multiple repeats and shows no homology to previously described genes, whereas COAS2 is a novel member of the cyclosporin-binding peptidylprolyl isomerase family, very similar to cyclophilin A. COAS2 was overexpressed almost exclusively in aggressive metastatic or chemotherapy resistant tumours. Although COAS2 was generally more ampli®ed than COAS1, it was not expressed in well-di erentiated liposarcomas, where ampli®cation of this region is very common. All three genes were found to be ampli®ed and over-expressed also in breast carcinomas. The complex nature of the 1q21-23 amplicons and close proximity of the genes make unequivocal determination of the gene responsible di cult. Quite likely, the di erent genes may give selective advantages to di erent subsets of tumours.

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

Cited by 77 publications

References 28 publications

High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours

High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours

KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers

Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21

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