[Retinoblastoma--hereditary eye cancer in children?].
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Genetic Predisposition to Disease↗
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Retinoblastoma: clinical features and current concepts in management.
It is important that retinoblastoma is considered as a possible diagnosis in all children presenting with a white reflex in the pupil. A constant unilateral strabismus with poor visual acuity is the next common method of presentation. Heritable tumours are more likely to be bilateral and occur earlier. Unilateral retinoblastomas present on an average at 24 months of age while bilateral disease at 12 months. The management of retinoblastoma had been revolutionised over the last decade. The introduction of gene testing in relatives with a known germ-line mutation has simplified follow-up. The early detection of small and medium sized tumours has lent itself to focal treatment with laser therapy. Chemoreduction followed by focal laser or cryotherapy can salvage eyes with large tumours. Thermotherapy reduces the amount of scarring associated with other modalities of focal treatment. Radiation in the form of brachytherapy or teletherapy is largely limited to tumours resistant to other forms of treatment due to the risk of local complications and the higher risk of secondary cancers in the field of radiation.
Child, Preschool↗
Cytokine induced apoptosis in human retinoblastoma cells.
PURPOSE: To determine potential anti-proliferative properties of interferon-gamma (IFN-gamma) and tumor necrosis factor (TNF-alpha) on human retinoblastoma cells. METHODS: Fluorescent antibody staining was used to detect IFN-gamma and TNF-alpha receptors on the cells. Y79 and Weri Rb-1 cells were exposed to IFN-gamma alone, TNF-alpha alone, or a combination of IFN-gamma and TNF-alpha, and apoptosis was measured by caspase 3 activation and annexin V staining. Cell cycle arrest was measured by BrdU incorporation and FACS analysis. RESULTS: Both cell lines expressed receptors for IFN-gamma and TNF-alpha. There appeared to be two populations of both receptors in the Weri Rb-1 cell line. Apoptosis was induced in Y79 cells by IFN-gamma, but not TNF-alpha, and the combination of the cytokines did not increase apoptosis above IFN-gamma alone in Y79 cells. Apoptosis was induced in Weri Rb-1 cells only upon exposure to both cytokines. The cell cycle was not significantly altered in either cell line. CONCLUSIONS: Human retinoblastoma cells respond to IFN-gamma or a combination of IFN-gamma and TNF-alpha by becoming apoptotic, but Y79 and Weri Rb-1 cells behave differently. The differential response of the two cell lines is not due to a lack of expression of IFN-gamma or TNF-alpha receptors. The data raise the possibility that differences in apoptotic pathways exist between the two cell lines with interesting implications for the induction of apoptosis as a therapy for retinoblastoma.
Annexin A5↗
[Optimal combined therapy in retinoblastoma].
Eighteen patients suffering of retinoblastoma during three years period (1999-2001) were treated in two departments of ophthalmology in the Czech Republic. In four cases, the involvement was bilateral. In six eyes, because of very late stage of the disease at the time of diagnosis, the initial treatment was the enucleation. The rest, (sixteen eyes) was treated by chemoreduction (chemotherapy) and different combinations of local therapeutic methods according to their respective findings. Nine eyes from this cohort were enucleated in different period of time after the beginning of the treatment because of the relapse of the disease, its continuing or complications of the treatment. In the remaining seven eyes there are no sings of tumor activity. The fractioned radiotherapy was used in the treatment in one eye only and this eye was enucleated subsequently. So the maintaining therapy was successful in seven eyes of sixteen involved, or in 43.75% of cases.
Child, Preschool↗
Retinoblastoma in Karachi, Pakistan.
The objective was to assess epidemiologic aspects of retinoblastoma development in Karachi, Pakistan. Incident cases, diagnosed clinically or microscopically and registered at Karachi Cancer Registry (KCR) during 1(st)January 1998 to 31(st) December 2002 were reabstracted, rechecked and reanalyzed for this purpose. One hundred and one cases of retinoblastoma were reported to KCR over the 5 years (1998-2002). Fifty-seven were residents of Karachi, 34 (59.6%) males and 23 (40.4%) females. The gender ratio (M:F) was 1.5. The mean age at diagnosis was 3.96 years (95% CI 2.92; 4.99) and 3.85 years (95% CI 2.72; 4.98) in males and females respectively. The annual crude incidence of retinoblastomas in Karachi was 4.0/100,000 and 2.4/100,000 in children under the age of 5 and 10 years respectively, the corresponding age standardized rates being 5.3/100,000 and 4.8/100,000. The age groups at risk of developing retinoblastoma, associated morbidity and possibility of almost 100% 5-year survival with available treatments, calls for ophthalmologic screening of all infants below 1 year, and high-risk children until the age of 7 years. In order to detect retinoblastoma, as early as possible, health education for parents and health providers, and improved training of ophthalmologists is essential. Genetic testing for siblings and children of retinoblastoma cases and identification of high-risk children would be helpful, but lacks financial feasibility in developing countries at present. Future health care planning should focus on capacity building for neonatal ophthalmologic screening, handling of parents'and children'emotional reactions and opportunities for education, occupational training and cosmetic rehabilitation for surviving retinoblastoma patients.
Adolescent↗
[An experiment study of in vitro induced antitumor immune responses by vaccination of tumor lysate-pulsed dendritic cells to kill SO-RB(50)].
OBJECTIVE: To investigate induced antitumor immune responses by vaccination of tumor lysate-pulsed dendritic cells (DC) to kill retinoblastoma cells SO-RB(50). We hope to offer new approach for the treatment of patients with retinoblastoma. METHODS: DC was pulsed with RB tumor lysates in vitro and incubated with autologous lymphocytes to induce antigen specific CTL (cytotoxic T lymphocyte, CTL). SO-RB(50) cells were used as target cells and Raji cells were used as control target cells. Cytotoxicity of CTL was evaluated by MTT method (methyl thiazolyl letrazolium). The specific cytotoxicity of CTL to SO-RB(50) and Raji cells was compared. The cytotoxicity of CTL from RB and normal subjects was compared between these two groups. RESULTS: Antigen specific CTL showed greater cytotoxicity to SO-RB(50) than Raji cells, the difference was statistically significant, P < 0.01. The cytotoxicity was dose-dependent to the ratio of CTL/target cell. The nonspecific cytotoxicity to Raji cells was the same in CTL from RB patients and normal subjects, P > 0.05. The specific cytotoxicity of CTL from RB patients to SO-RB(50) was weaker than that from the healthy subjects, P < 0.01. CONCLUSION: DC pulsed with RB tumor lysate in vitro can induce antigen specific CTL which can kill the SO-RB(50) target cells specifically. This method may have potential value of therapy for the RB patients.
Cancer Vaccines↗
[The study on the correlation between telomerase and histopathologic features of retinoblastoma].
OBJECTIVE: To investigate the correlation between the expression of human telomerase RNA (hTR), human telomerase reverse transcriptase (hTRT) and the proliferation and differentiation of retinoblastoma (RB). METHODS: In 37 RB specimens, the expression of hTR and hTRT was investigated with the methods of in situ hybridization (ISH). Immunohistochemical method was performed to detect the expression of proliferating cell nuclear antigen (PCNA) in RB. All data were analyzed statistically with SPSS. RESULTS: Of 37 RB specimens, positive expression of hTR and hTRT was 83.8% and 89.2%, respectively, while negative results were observed in 2 normal retina tissues. The expressions of hTR and hTRT showed a close correlation to the proliferation and differentiation of RB. Furthermore, there was a close correlation among the expression of hTR and hTRT. CONCLUSIONS: These results suggest that higher expression of hTRT and hTR may be used as new parameters for evaluating the degree of malignancy of RB. The close correlation between the expression of hTR and hTRT and proliferation and differentiation degrees of RB indicats that the expression of telomerase can influence the proliferation and differentiation of RB. Because the telomerase is presented in the Rb, therefore, modulating the telomerase activity may be used as a novel treatment for the RB.
Child, Preschool↗
[Experimental study of Retinoblastoma inhibition using all trans Retinoic Acid ].
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Antineoplastic Agents↗
Nongonadal neoplasia in patients with Turner syndrome.
In a prospective study of 50 patients with retinoblastoma, a 10-year-old girl with unilateral (right eye) retinoblastoma was found to have 45,X karyotype. Because there is increasing evidence of nongonadal neoplasia occurring in patients with Turner syndrome in addition to the gonadal tumor from dysgenetic gonads, we reviewed the occurrence of nongonadal neoplasia in Turner syndrome cases. Of all the nongonadal neoplasia, neurogenic tumors show a preponderence among children and young adults with Turner syndrome. To the best of our knowledge, this is the first reported case of Turner syndrome with retinoblastoma. The available literature strongly suggests that patients with Turner syndrome may be at risk of developing neurogenic tumors. Further studies are necessary to identify the role of some X-linked genes that escape X-inactivation in tumorigenesis in patients with Turner syndrome.
Child↗
[Measurement and the clinical significance for the intraocular concentrations of carboplatin after systemic and local administration in rabbits].
PURPOSE: To investigate and compare the concentrations of carboplatins achieved in the aqueous and vitreous humors after intravenous or subconjunctivaly injection and to investigate whether local administration of carboplatin might result in higher concentrations in the aqueous and vitreous humor. METHODS: Four New Zealand rabbits were treated with carboplatin (18.7 mg/kg) in intravenous. The other 4 rabbits were injected with carboplatin (10 mg/ml 0.5 ml) in right eyes subconjunctivaly. The Samples of the aqueous and vitreous humors of rabbits were drawed at 1, 2, 3 hours after the end of infusion and measured the concentration of carboplatin with atomic absorption spectroscopy. The agent dose of systemic infusion were 8 fold for that in subconjunctival delivery. RESULTS: The concentrations of carboplatin in aqueous and vitreous humors treated with intravenous after 1, 2, 3 hours were 140, 330, 180 ng/ml and 20, 40, 17 ng/ml. The concentration of carboplatin in aqueous and vitreous humors treated with subconjunctively after 1, 2, 3 hours were 2,650, 4,390, 2,780 microg/ml and 160, 250, 110 ng/ml. There is statistical significance between the concentrations of carboplatin of aqueous and vitreous humor after intravenous and subconjunctival (P < 0.01). CONCLUSIONS: The delivery of subconjunctival of carboplatin result in higher concentrations in aqueous and vitreous humors than intravenous administation. The result suggest that local delivery of chemotherapeutic drugs should elevate the intraocular drugs concentration and be effective for retinoblastoma treatment.
Administration, Topical↗
[The clinical significance of calcification in orbital computed tomography].
OBJECTIVE: To study clinic significance of ocular and orbital diseases with computed tomographic (CT) scans. METHODS: 2181 ocular and orbital photos of computed tomographic scans were reviewed. The relevance with pathogenesis, diagnosis criteria and differential diagnosis of calcification was analyzed. RESULTS: Of 2181 CT scans, 129 showed calcified densities. 40 cases (31%) with retinoblastoma, and 3 cases (1%) with chorodal osteoma were revealed intraocular lesions containing calcium. The massive calcification was demonstrated in orbital diseases including 58 cases (45%) with vascular lesions, 19 (15%) cases with other orbital benign tumors and 9 cases (8%) with orbital malignant tumors. CONCLUSION: The calcification number, location and shape within lesions are of great value in the diagnosis of ocular and orbital diseases.
Calcinosis↗
[Clinical and statistical study in retinoblastoma].
Between 1982-1996 nineteen cases with retinoblastoma were hospitalized. Thirteen of them were one to three years old. The study of their origin shows fourteen cases by rural medium and five cases by city medium, seventeen cases had an unilateral evolution and two cases a bilateral evolution. Clinical manifestations which requested ophthalmological exam were: secondary glaucoma in twelve cases, leukochoria in ten cases, decreased of visual acuity in eight cases, inflammation of uvea in three cases, strabismus in two cases, buphthalmia in one case. On insist belated (100 late) presentation by the physician. Computer tomography shows the area of tumour and its extension at the neighbour structures.
Child↗
[Retinal tumors of the adult--two case reports].
Most frequently, retinal tumors that affect adults are rare, benign lesions that arise from vascular structures (hemangioma), neuroglial structures (astrocytoma, massive gliosis of the retina) or neuroepithelial cells (occasional forms of retinoblastoma that spontaneously stop growing and do not achieve or lose their malignant character). Retinal metastasis might be encountered but the settling of cancer cells at this level is very rare. Retinal tumors have frequently systemic associations and in this case they are included in the phacomatoses syndrome; nevertheless, they can also occur as a nonsyndromic pathological disorder. Even if the incidence is rare and the variety limited, issuing a diagnosis proves difficult because retinal tumors look like other lesions or due to a low visibility of the ocular fundus. Hereunder we shall present you two cases of retinal tumors that were difficulty diagnosed and treated by surgical excision of the tumor.
Adult↗
[Molecular diagnosis in ophthalmology].
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Color Vision Defects↗
[Genetic diagnosis of retinoblastoma by a combination of fluorescence in situ hybridization and restriction fragment length polymorphism].
PURPOSE: It is important to exclude germ line mutation in cases of unilateral retinoblastoma(RB) to estimate hereditary or possible secondary cancer. We investigated whether genetic diagnosis is feasible in a health check screening program. METHODS: Five patients with RB had surgery for enucleation in Keio University Hospital. Tumor cells from enucleated eyes and lymphocytes representing systemic cells were collected and analyzed genetically by fluorescence in situ hybridization(FISH) and restriction fragment length polymorphism (RFLP). RESULTS: One out of three unilateral RB cases could be diagnosed as non-hereditary by the finding of no copies of the RB gene in the tumor cells using the FISH method and no signal in the RFLP method. A decrease of signal in tumor cells to less than 50% in the RFLP method was observed in another case of unilateral RB that seemed to be non-hereditary, but the case ultimately could not be diagnosed as non-hereditary because polycopies were found in the FISH method. No abnormality in tumor cells could be found in another unilateral case or in systemic cells of two bilateral cases. CONCLUSION: A combination of FISH and RFLP methods can be used to diagnose some cases of RB as non-hereditary.
Child, Preschool↗
Measurement of intraocular concentrations of etoposide after systemic and local administration.
PURPOSE: To determine and compare the concentrations of etoposide achieved in the aqueous and vitreous humors after intravenous and subconjunctival administration. METHODS: Eight New Zealand rabbits were treated with etoposide (5mg/kg) intravenous and etoposide (2.5 mg/ml, 0.5 ml) subconjunctival respectively. The samples of the aqueous and vitreous humors of rabbits were drawed at 1, 2, 3 hours after the end of infusion. The concentrations of the etoposide were determined by high-performance liquid chromatography. A Diamonsil TM C18 column ( 6 x 40 mm, 3 microm ) with a mobile phase of 400 ml of methanol and 600 ml of 100 mmol x L(-1) sodium dihydrogen phosphate with 0.02 mmol x L(-1) dioctyl sodium sulfosuccinate and 0.5% triethylanine (pH value was adjusted to 6 by phosphoric acid) was used. The detective wavelength was at 235 nm and the flow rate was 1.0 ml x min(-1). RESULTS: The concentrations of etoposide in aqueous and vitreous humors after administrated in intravenous for 1, 2, 3 hours were 38.5, 52.2, 44.1(ng/ml) and 12.0, 25.1, 18.0 (ng/ml) respectively. The concentrations of etoposide in aqueous and vitreous humors after infused in subconjunctival for 1, 2, 3 hours were 98.0, 113.0, 99.0 (ng/ml) and 43.7, 66.7, 32.4 (ng/ml) respectively. The concentrations in the aqueous and vitreous humor after local administrated were 2 to 4 times higher than those obtained after intravenous administration. There are statistical significance between the concentrations of etoposide of aqueous and vitreous humor after intravenous and subconjunctival administration. CONCLUSIONS: The delivery of subconjunctival of etoposide results in higher concentrations in aqueous and vitreous humors than intravenous administration. These results suggest that local administration of chemotherapeutic agents should be more effective for retinoblastoma chemotherapy than systemic administration.
Administration, Topical↗
[Multiple astrocytic hamartomas in the bilateral retina].
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Adolescent↗