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PubMed2002

Presenting signs of retinoblastoma in Congolese patients.

OBJECTIVE: To report the relative frequency of the signs of presentation in Congolese children with retinoblastoma. METHODS: A retrospective study was undertaken of all (29) patients with retinoblastoma examined between January 1995 and December 2000. RESULTS: There were 19 (66%) boys and 10 (34%) girls. For all cases, mean age at diagnosis was 2.94 years +/- 1.6 (range, four months to six years). For bilateral cases, it was 1.12 year +/- 1.4 (range, two months to three years) whereas for unilateral cases it was 3.23 years +/- 1.5 (range, four months to six years) (P = 0.016). More than seven distinct signs were identified. Leukocoria was the most common presenting sign in 49% of diagnosed cases followed by proptosis (28%). Other signs were strabismus, red eye, anterior scleral staphyloma, hyphema and buphthalmia. CONCLUSION: Strabismus seemed to be uncommon whereas proptosis is important in our small series when compared to signs reported in the developed world.

Age Distribution↗
PubMedDate not supplied

Inflammatory orbital pseudotumor simulating retinoblastoma in a one year old girl.

The case report of a one year old girl with a clinical diagnosis of retinoblastoma who following enucleation was histologically diagnosed as a case of inflammatory orbital pseudotumour is presented. The literature is reviewed and the conclusion is reached that inflammatory orbital pseudotumour be considered in the list of deferential diagnosis of proptosis in early childhood.

Diagnosis, Differential↗
PubMed2002

Improved clinical management of retinoblastoma through gene testing.

AIMS: To investigate the relative benefits of retinoblastoma gene testing over conventional ophthalmological screening methods in a New Zealand setting, and to determine the importance of tumour material in resolving germline status. METHODS: Three cases of gene testing are described to illustrate the clinical advantages over conventional ophthalmological screening. To determine the role of tumour material in resolving germline status, 24 New Zealand families were tested, of which tumour material was available for eight. RESULTS: In the three cases reported, we found genetic testing of the RB1 gene resulted in clinically significant benefits and cost savings. When fresh tumour was available for high molecular weight DNA extraction, germline status was resolved in 8/8 (100%) cases. In these cases tumour mutations were not present in the corresponding peripheral blood DNA, indicating that the tumours were sporadic. In the absence of tumour DNA, mutations were identified in only 8/13 (62%) heritable cases. Germline status remains unresolved in all of the three cases of unilateral tumour without a family history or tumour DNA. CONCLUSIONS: Our experience indicates that retinoblastoma gene testing has significant benefits to the affected individuals and their families in New Zealand. Moreover, DNA extracted from fresh tumour allows retinoblastoma germline status in most cases to be defined. Without rumour material, the germline status of potentially sporadic cases will remain undetermined since the absence of detectable RB1 coding region mutations does not exclude all possible mutations in the RB1 gene, which is too large for DNA analysis. A lack of conclusive results will mean that infants will be subjected to the unnecessary inconvenience of surveillance under general anaesthesia.

Cost Savings↗
PubMed2002

The Wilms' tumor suppressor Wt1 is associated with the differentiation of retinoblastoma cells.

We have demonstrated recently that Wilms' tumor suppressor 1 (Wt1),in addition to its role in genitourinary formation,is required for the differentiation of ganglion cells in the developing retina. Here we provide further evidence that Wt1 is associated with neuronal differentiation. Thus, the retinoblastoma-derived human cell line, Y-79, contained robust amounts of Wt1 mRNA and protein. Wt1 expression was down-regulated upon laminin-induced differentiation of Y-79 into neuron-like cells. Inhibition of Wt1 with antisense oligonucleotides dramatically reduced the capacity of undifferentiated Y-79 cells to undergo neuronal differentiation, whereas sense and missense oligonucleotides had no effect. Wt1 immunoreactivity was also detected in solid retinoblastomas, in which it resided mainly in areas with moderate proliferative activity. These findings suggest a role for Wt1 in the differentiation of retinoblastoma cells. Furthermore, Wt1 expression in retinoblastoma may reflect the potential of these tumors to initiate the early steps of neuronal differentiation.

Cell Differentiation↗
PubMed2002

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

PURPOSE: To assess the natural history of retinal manifestations in von Hippel-Lindau (VHL) disease and to study the genotype-phenotype correlation. METHODS: Data concerning 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations were extracted from the French VHL database. A retrospective study was performed by questionnaire. Patients were classified into three visual morbidity groups. Molecular analysis of the VHL gene was performed in 196 patients. RESULTS: The mean age of ocular manifestations detection was 24.8 years. In half of the cases, the ocular manifestations revealed the disease. Half of the cases had bilateral involvement. Visual morbidity was significantly associated with the retinal hemangioblastoma count but not with other ocular or general characteristics. One third of the patients were classified in the worst visual morbidity group at the end of follow-up. Mutations were detected in 81% of patients with retinal hemangioblastomas and in 71% of patients without retinal involvement. Using a Poisson model and a marginal approach, the number of hemangioblastomas, age-adjusted, was 2.1 times higher in patients who had a substitution than in patients with a truncation (95% CI, 1.05-4.44; P < 0.05). CONCLUSIONS: Visual loss remains one of the major complications of VHL disease, confirming the importance of early ophthalmologic screening. Visual morbidity was not related to the type of extraocular manifestation but appeared to be related to the type of germline mutation. However, only further genetic and clinical studies in a larger series of patients will clearly determine the genotype-phenotype relationship.

Adolescent↗
PubMed2002

[Low-penetrance retinoblastoma due to exons 24 and 25 deletions in the Rb1 gene].

OBJECTIVE: Identification of Rb1 mutations permits accurate genetic counseling. Characterization of the causative mutation in a large low penetrance family is likely to provide important information for tumorigenesis of retinoblastoma(RB). METHODS: Quantitative fluorescent multiplex PCR QFM-PCR technique was used for mutation detection. Long fragment PCR, reverse transcriptase-PCR, subcloning, direct sequencing and Western blotting techniques were used for characterizing the mutation. RESULTS: A deletion covering exons 24 and 25 of Rb gene was found in a large family with 122 members in four generations. Of the 18 carries in the family, only 11 were delivered to either unilateral or bilateral RB. The family has much low-penetrance retinoblastoma, compared with the usual, high-penetrance RB (95%). An extent of 4 kb fragment deletion was detected in genomic deletion of the mutation. cDNA and sequence data showed a 174 bp shorter than the wild type message RNA resulting in an in-frame loss of 58 residues. Further analysis demonstrated the truncated protein expression of 6000 Da shorter than wild type RB1 protein. CONCLUSION: QFM-PCR technique has enabled the investigators to identify a large deletion covering entire exons 24 and 25 of the Rb1 gene. It is the largest deletion ever found in low penetrance RB families. The characterizations of the mutation in genomic DNA, RNA and protein have provided new evidences which enhance credence to the idea that low penetrance retinoblastoma is caused by only partially functional disable of Rb1. The data will be useful in genetic counseling, particularly significant for the unaffected carriers in RB low penetrance families.

Exons↗
PubMedDate not supplied

[Clinical informative value of new methods of ultrasonic examination in the differential diagnosis of various forms of congenital diseases of the eyes in children].

Clinical informative value of computer echography for the differential diagnosis of severe intrauterine uveitis (68 children, 96 eyes), retinopathy neonatorum (37 children, 74 eyes), Coats' retinitis (35 children, 35 eyes), and retinoblastoma (17 children, 26 eyes) was studied in a group of 157 children (231 eyes) with opaque refracting media. Ultrasonic diagnostic equipment with a high level of computer support essentially improved the resolving capacity of echography and detected accessory acoustic signs of some congenital ocular diseases.

Child↗
PubMedDate not supplied

[RB1 and CDKN2A functional defects resulting in retinoblastoma].

Multiplex methylation-sensitive PCR was employed in studying the methylation of the RB1 and CDKN2A/p16 promoter regions in 52 retinoblastomas. Aberrant methylation inactivating RB1 was detected in 14 (27%) tumors. Methylation of p16 was for the first time observed in retinoblastoma (9 tumors, 17%). Both promoters proved to be methylated in two tumors. In four tumors, aberrant methylation was combined with structural defects of both RB1 alleles. Aberrant methylation of the p16 promoter was the second mutation event in two tumors and was not accompanied by RB1 defects in one tumor. Complex testing for RB1 mutations, loss of heterozygosity, and functional inactivation of the two genes revealed a molecular defect in at least one allele in 51 (98%) tumors.

Cyclin-Dependent Kinase Inhibitor p16↗
PubMed2002

[Clinical features of 48 cases with retinal angioma].

OBJECTIVE: To summarize the clinical features of 48 cases with retinal angioma. METHODS: The 48 cases were retrospectively summarized. The clinical features included sex distribution, age at first visit, chief complains, visual acuity, and the size, number and site of retinal angioma identified by fundus fluorescein angiography (FFA) and fundus examination. RESULTS: There were 24 males and 24 females. The mean age at onset was 27 years. Thirteen cases (27%) had bilateral retinal angiomas. Multiple angiomas were found in 22 eyes (36%). Seventeen cases (35%) were identified as von Hippel Lindau (VHL) disease. The location of angioma was in the temporal retina in all the cases with only one angioma. All the symptomatic tumors were larger than 1 disc diameter (DD). The common symptoms of patients with retinal angioma were visual loss in 77% cases, floaters in 15% cases and distortion in 8% cases. CONCLUSION: Retinal angioma is an uncommon disease prone to be involved in both eyes and to primarily damage the vision of young and middle-aged adults.

Adolescent↗
PubMed2002

Retinal capillary hemangiomas: clinical manifestations and visual prognosis.

BACKGROUND: To describe the clinical features, visual outcomes, and therapeutic complications of patients with retinal capillary hemangiomas. METHODS: A retrospective, non-comparative, observational case study of patients diagnosed with retinal capillary hemangiomas was conducted. Twelve patients (13 eyes) at Chang Gung Memorial Hospital of Kaohsiung from July 1987 to June 2001 were reviewed. Pre- and post-treatment visual acuity and ocular complications are described. RESULTS: One patient had bilateral and another had unilateral juxtapapillary hemangiomas. All of the other 10 patients were diagnosed with peripheral retinal capillary hemangiomas. More patients had retinal capillary hemangiomas located in the temporal peripheral retina and all had endophytic growth patterns. No patient met the diagnostic criteria of von Hippel-Lindau disease. Visual acuity levels of peripheral retinal hemangiomas without exudative retinal detachment often remained the same after focal laser treatment. Two patients received vitreoretinal surgery. Patients with juxtapapillary hemangiomas had variable visual outcomes and visual field defects during follow-up. CONCLUSION: Early diagnosis of capillary hemangiomas in the retinal periphery and treatment by focal laser produced good visual outcomes. If untreated, the tumors may eventually be complicated with exudative retinal detachment and have a worse visual prognosis even with vitreoretinal surgery.

Adolescent↗
PubMed2002

Toxicity and dose-response studies of 1 alpha-hydroxyvitamin D2 in LH beta-Tag transgenic mice.

PURPOSE: The study objective is to determine the effectiveness of a vitamin D analogue, 1 alpha-hydroxyvitamin D2 (1 alpha-OH-D2), in inhibiting retinoblastoma in a transgenic retinoblastoma model (LH beta-Tag mouse) and to evaluate its toxicity. Previous studies of 1 alpha-OH-D2 in athymic mice with human retinoblastoma xenografts suggested efficacy in tumor suppression and suitability for human treatment. METHODS: LH beta-Tag mice (N = 142), 8 to 10 weeks old, were randomly assigned to treatment groups receiving either control (vehicle) or 0.1, 0.3, 0.5, or 1.0 microgram/day of 1 alpha-OH-D2 via oral gavage five times a week for 5 weeks. Animals were then euthanized. The eyes were enucleated, processed histologically, and serially sectioned. Three sections of each eye were microscopically examined, and mean tumor area was measured using Optimus software. Toxicity was assessed by mortality, weight loss, serum calcium levels, and kidney calcification. RESULTS: The mean tumor size in each 1 alpha-OH-D2 group was smaller than in controls (P values < .02): control, 90,248 microns 2; 0.1 microgram, 31,545 microns 2; 0.3 microgram, 16,750 microns 2; 0.5 microgram, 30,245 microns 2; and 1.0 microgram, 16,049 microns 2. No dose-dependent response curve was evident. Mortality was higher in the groups receiving the 0.5 microgram and 1.0 microgram doses (P values < .01) than in the other treatment groups and the control group. CONCLUSION: In the LH beta-Tag mouse, 1 alpha-OH-D2 inhibits retinoblastoma with no increased mortality at lower doses (0.1 to 0.3 microgram). 1 alpha-OH-D2 has been approved by the Food and Drug Administration as an investigative drug for cancer treatment and has shown efficacy with low levels of toxicity in adult cancer trials. 1 alpha-OH-D2 meets the criteria for human clinical trials.

Animals↗
PubMed2001

Pathological, ultrastructural and immunohistochemical observations of adenoma of retinal pigment epithelium.

PURPOSE: To Study the clinical, pathological, ultrastructural and immunohistchemical characters of adenoma of the retinal pigment epithelium in order to offer evidence to diagnose this tumor. METHODS: Routine paraffin slices HE stain, histochemistry PAS and VG stain, transmission electron microscopy, and immunohistochemistry for S-100 and vimentin with LSAB method were used. RESULTS: The tumor cells were oval and cuboidal in shape. Part of the tumor had a tubular arrangement. Around the sheets of tumors cells there was a large amount of uniform red stick-like substances. The above matter represented positive in PAS stain. Most of the above matter was yellow, while less of the matter showed red in VG stain. Transmission electron microscopy showed that there were tight junctions between tumor cells. Immunohistochemistry showed positive for S-100, negative for vimentin. CONCLUSIONS: The ultrastructural and immunohistochemical characters of the adenoma of retinal pigment epithelium are consistent with the retinal pigment epithelium.

Adenoma↗
PubMed2001

[Study on the dynamic changes of retinoblastoma gene of SO-Rb50 cell line].

PURPOSE: To study the dynamic changes of Retinoblastoma Gene of SO-Rb50 cell line. METHODS: 1) Southern blot hybridization was used to analyse the tumor cell DNA of 327th passage of SO-Rb50 cell line. 2) A promoter and 27 exons of Rb gene were screened exon-by-exon by using PCR-SSCP at 415th and 713th passages of SO-Rb50 cell line. 3) Three cell cloning strains named as MC2, MC3 and MC4 were isolated by single cell cloning technique from the SO-Rb50-775, and mutation of Rb gene were also screened exon-by-exon by using PCR-SSCP-HA in MC2-11, MC3-11, MC4-11 and MC3-138. RESULTS: The 3.5 Kb, 2.9 Kb and 1.0 Kb bands were deleted in the DNA of SO-Rb50-327 tumor cells, showing the deletion of Rb gene in SO-Rb50 cell line. Exon23 of 451th passage cells decreased one band; but exon 25 of 713th passage cells decreased two bands, indicating that exon 25 had new mutation. PCR-SSCP-HA analysis of exon24 showed that MC4-11 and MC3-138 had abnormal bands, but MC2-11 and MC3-11 weren't found mutation of Rb gene. This result suggested that new mutation occurred to exon24 of MC3 during a long-term culture in vitro. CONCLUSION: Retinoblastoma gene mutation of SO-Rb50 cell line had dynamic changes during a long-term culture.

Exons↗
PubMed1999

The killing effect of photodynamic therapy using benzoporphyrin derivative on retinoblastoma cell line in vitro.

OBJECTIVE: To evaluate the killing effect of photodynamic therapy (PDT) using new photosensitizer benzoporphyrin derivative complexed with human low density lipoprotein on retinoblastoma (RB) cell line in vitro. METHODS: The experiment of photodynamic killing effect on RB cell line in vitro was performed by using benzoporphyrin derivative (BPD or Verteporfin) and monochromatic light at the wavelength around 690 nm. Seven BPD concentrations (2,500 ng/ml, 1,250 ng/ml, 625 ng/ml, 312.5 ng/ml, 156.25 ng/ml, 78.125 ng/ml, 39.0625 ng/ml) and three energy densities (1.2 J/cm2, 2.4 J/cm2 and 3.6 J/cm2) were applied. The damage of the tumor cells was evaluated by MTT assay 24 hours after PDT. The changes of the ultrastructure of RB cells were observed under eleceronic microscope 4 hours after PDT. RESULTS: There was a significant dose-response relationship between tumor cell damage and BPD concentration in the medium under light irradiation at the energy density of 1.2 J/cm2. At each BPD concentration, the inhibition rate increased with the rise of energy density. RB tumor cell necrosis was found widely under electronic microscope. CONCLUSIONS: This study suggested that RB cells are very sensitive to the PDT induced by BPD in vitro. RB tumor cell were directly killed by photodynamic effect induced by BPD.

Cytotoxicity, Immunologic↗
PubMed1999

[Establishment of a chemotherapeutic agents-induced apoptosis model of retinoblastoma].

OBJECTIVE: To determine the apoptotic effects of different chemotherapeutic agents on the retinoblastoma(RB) cell line HXO-RB44 and to establish a drug-induced apoptosis model of RB in vitro as the basis for further research on the mechanism of drug-induced apoptosis and spontaneous regression of RB. METHODS: Twelve chemotherapeutic agents, including vincristine, cytarabin, methotrexate, cyclophosphamide, thiotepa, mitoxantrone, aclanomycin, pirarubicin, cisplatin, carboplatin, mitomycin, etoposide, of different concentration (10(-9), 10(-8), 10(-7), 10(-6), 10(-5), 10(-4) mol.L-1) were employed into HXO-RB44 cell line respectively for 24 hours, then apoptotic effects on it were decided by observing the DNA ladders on agarose gel electrophoresis. After that, one chemotherapeutic agent with the most evident DNA ladders was applied into HXO-RB44 cell line for 4, 8, 16, 24, 48 and 72 hours respectively, and the DNA ladders on agarose gel were also surveyed. Apoptotic cells were identified with transmission electron microscopy. RESULTS: Typical DNA ladders were shown on agarose gel after HXO-RB44 cell line were exposed to 10(-6)-10(-5) mol.L-1 vincristine and 10(-5) mol.L-1 aclanomycin for 24 hours and the former were much clearer. No DNA ladders did emerge when the RB cells were treated by the rest ten chemotherapeutic agents. The DNA ladders began to appear when dealt with 10(-5) mol.L-1 vincristine for 8 hours, to be most obvious for 24 hours, and abated for 48 hours then disappeared for 72 hours. Amount of apoptotic RB cells were observed by transmission electron microscopy. CONCLUSION: Both vincristine and aclanomycin have the effect of inducing apoptosis on HXO-RB44 cell line, but that of vincristine is more forceful, which is time and concentration dependent. So vincritine is an ideal agent for establishing an apoptosis model of HXO-RB44 cell line.

Antineoplastic Agents↗