Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Retinal Neoplasms”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 901 records · Page 50Linked to original sources
PubMed2002

Solitary retinal capillary hemangioma: lack of genetic evidence for von Hippel-Lindau disease.

PURPOSE: To report the results of genetic testing for von Hippel-Lindau (VHL) disease in patients presenting with solitary retinal capillary hemangioma (RCH). METHODS: Ten patients with solitary RCH, who were excluded clinically as having VHL disease, underwent genetic testing using a combination of Southern blot, conformation sensitive gel electrophoresis, and direct sequence analysis. The results of the genetic tests were used to refine the empiric risk for VHL disease using principles of probability. RESULTS: Genetic testing for VHL disease was negative for mutation in all patients. The negative results of the genetic tests diminished the empiric risk for VHL disease by 100-fold. CONCLUSIONS: Solitary RCH can occur sporadically or be associated with VHL disease. In addition to clinical evaluation, genetic testing should be considered to exclude VHL disease with a high level of certainty.

Adolescent↗
PubMed2002

Mutational analysis of the RB1 gene in Indian patients with retinoblastoma.

Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of the amplified products. Sequences of affected individuals were compared with those of controls. Mutations were identified in seven patients, five with bilateral and two with unilateral retinoblastoma. Six out of seven mutations involved the formation of premature termination codons by means of single base substitutions (2), frameshifts due to splice-site mutations (2), or deletion and duplication (2). One missense mutation was identified. Of the remaining fourteen patients, seven with bilateral disease had no mutations in peripheral blood (7 cases) or tumors (3/7 cases). Analysis of the peripheral blood of seven patients with unilateral disease also showed no mutations. Mutations were detected in about one-third of the cases, suggesting that hemizygous deletions at the RB1 locus or mutations outside the coding regions of RB1 may be responsible for the disease in the remaining patients.

Child↗
PubMed2002

Electroretinographic changes in the inner retinal layers of the retained eyes of patients with sporadic unilateral retinoblastoma.

PURPOSE: Examination of retinal function as measured by flash electroretinogram (ERG) including oscillatory potentials (OPs) and pattern electroretinogram (PERG) in a series of patients with unilateral sporadic retinoblastoma. PATIENTS: Studies were undertaken in the retained eye (without clinical evidence of retinoblastoma) of 13 patients with sporadic unilateral retinoblastoma and in 13 healthy controls. METHODS: Standard flash ERG including scotopic OPs and PERG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: Statistically significant differences between the studied and the control groups were observed with flash ERG (OP1 amplitude increase, p < 0.003; photopic flicker amplitude increase, p < 0.05) and PERG (P50 latency increase, p < 0.008). CONCLUSIONS: Inner retinal layer dysfunction may be a characteristic feature of individuals with unilateral sporadic retinoblastoma.

Adolescent↗
PubMed2002

Vitamin D analogs, a new treatment for retinoblastoma: The first Ellsworth Lecture.

PURPOSE: This lecture honors the memory of Dr. Robert M. Ellsworth, an important figure in the development of current treatments of retinoblastoma (RB), and reviews our studies of vitamin D analogs as treatments for retinoblastoma in two experimental mouse models. We identified vitamin D receptors in retinoblastoma and examined the effectiveness and mechanism of action of these analogs. METHODS: Reverse-transcriptase polymerase chain reaction (RT-PCR) amplification was used to detect vitamin D receptor mRNAs in human and mouse retinoblastomas. The effectiveness and toxicity of vitamin D(2), calcitriol, and synthetic analogs were studied in the athymic/Y-79 xenograft and transgenic mouse models of RB. Dosing was 5X/week for five weeks. Dose-response studies focused on tumor inhibition; toxicity studies investigated survival and serum calcium. The mechanism of action of vitamin D was investigated using terminal transferase dUTP labeling 3'-overhang ligation to measure apoptosis; immunohistochemistry measured p53-dependent gene expression and cell proliferation. RESULT: Vitamin D receptor mRNAs were detectable in Y-79 RB cells, LH beta-Tag tumors, and human RB specimens using RT-PCR. Calcitriol inhibited cell growth in vitro. Calcitriol and vitamin D(2) inhibited in vivo growth in xenograft and transgenic models, but therapeutic levels were toxic due to hypercalcemia. Two analogs, 16,23-D(3) and 1 alpha-OH-D( 2), inhibited tumors in animal models of RB with reduced toxicity. The mechanism of action appears related to increased p53-related gene expression resulting in increased apoptosis. CONCLUSION: 16,23-D(3) and 1 alpha-OH-D(2) are effective in tumor reduction in two mouse models of RB with low toxicity. These results warrant initiating phase 1 and phase 2 clinical studies in children.

Animals↗
PubMed2003

Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma.

BACKGROUND: Abnormalities of chromosome 13 have been associated with bilateral retinoblastoma. Deletion of a retinoblastoma gene is a common primary mechanism. Other abnormalities are more rare. To our knowledge, a balanced translocation of the long arms of the X and 13 chromosomes associated with bilateral retinoblastoma has been reported five times. We report an unbalanced X;13 translocation resulting in partial trisomy 13 and an interstitial deletion of an RB locus. METHODS: Case report. RESULTS: A 19-month-old child presented with seizures to the emergency department. A CT scan revealed bilateral intraocular calcification, and retinoblastoma (RB) was confirmed with an ophthalmic exam. Abnormal facies and developmental delay were noted. A partial trisomy derived from the translocation of X;13 was observed in both bone marrow and peripheral blood cells. Fluorescence in-situ hybridization (FISH) studies confirmed triplication of a region on the q arm of chromosome 13 spanning the RB locus. One of the normal chromosome 13 homologues had an interstitial deletion of the RB locus since no signal was observed for the RB-1 probe despite the visible presence of the 13q14 region. Additional evidence of the interstitial deletion is supported by the typical facial features and developmental delay found. Presumably, the translocated X underwent X inactivation precluding systemic features typically observed in trisomy 13. Parental karyotypes were normal. The chromosomal abnormality was a de-novo constitutional event. CONCLUSIONS: Only two RB loci were present in this patient despite triplication of 13q. The third locus was deleted. We believe that the second locus was not expressed due to X inactivation of the RB gene on the der(X)t(Xq:13q) chromosome. The emergence of bilateral retinoblastoma points towards lack of heterozygosity at the third and last remaining RB loci in tumor cells. To our knowledge, an unbalanced translocation resulting in partial trisomy 13 with retinoblastoma has not been previously reported.

Chromosome Aberrations↗
PubMed2004

Fluorine-18 fluorodeoxyglucose positron emission tomography (PET) to detect vital retinoblastoma in the eye: preliminary experience.

BACKGROUND/AIMS: To report our first experience with FDG-PET in the detection of vital retinoblastoma. METHODS: Four newly diagnosed retinoblastoma patients, two treated retinoblastoma patients, and four control patients were enrolled in this pilot study. F18-FDG uptake was assessed in the light of clinical and histopathological features. RESULTS: PET discriminated between new patients and controls, although tumor uptake varied widely. PET added no useful information with regard to possible vital tissue in tumor scars in the eye of the two treated retinoblastoma patients. Moreover, PET findings did not correlate with clinical or histopathological features. CONCLUSION: Based on this small pilot study, F18-PET shows little promise in the detection of retinoblastoma. More research on other radiofarmacons is recommended.

Child, Preschool↗
PubMed2004

Activity of topotecan in retinoblastoma.

PURPOSE: To report our experience with topotecan in children with relapsed/refractory metastatic and intraocular retinoblastoma. PATIENTS AND METHODS: Topotecan was administered intravenously as a 30-min infusion at a dose of 2 mg/m2/d for five consecutive days and repeated after three weeks. If obvious progression was detected by physical examination in patients with overt extraocular disease or if progressive disease was noted after fundoscopic examination in patients with intraocular disease, a second cycle was not administered. Response was evaluated at Week 6. RESULTS: Nine patients (6 extraocular, 3 intraocular) were treated from November 1998 to March 2002. A total of 16 cycles were administered. In patients with extraocular disease, there were three partial responses, two cases of stable disease, and one case of progressive disease. Two patients with relapsed/resistant intraocular disease had partial response. allowing local therapy to be performed, and the third patient had progressive disease. The drug was well-tolerated. No patient developed fever or documented infections. No other serious toxicity was found. CONCLUSION: Topotecan is active in extraocular and relapsed/resistant intraocular retinoblastoma. The role of this drug in the treatment of retinoblastoma should be explored in further studies.

Adult↗
PubMed2004

Retinoblastoma presenting as orbital cellulitis: report of four cases with a review of the literature.

PURPOSE: To analyze the clinical and histopathological features of retinoblastoma presenting as orbital cellulitis. MATERIAL AND METHODS: Retrospective analysis of case records and review of the histopathology of four patients with retinoblastoma presenting as orbital cellulitis.RES U LTS On histopathological examination, all eyes showed anterior segment involvement with extensive necrosis. One case had a well-differentiated tumor and one showed extraocular extension of the tumor. CONCLUSION: Advanced necrotic retinoblastoma with anterior segment involvement may often present as orbital cellulitis.

Anterior Eye Segment↗
PubMedDate not supplied

In vitro thermo- and thermochemo-sensitivity of retinoblastoma cells from surgical specimens.

The sensitivity to heat and chemical modification of human retinoblastoma cells obtained from patients with primary retinoblastoma was studied in vitro by the human tumour colony assay established by Hamburger and Salmon in 1977. Retinoblastoma cells showed moderate sensitivity to 1 h of hyperthermia at 42 degrees C; the median T/C% (ratio of the colony number in treated vs. control dishes, x 100) under hyperthermia was 47.0% for 46 tumours studied. When tumours were treated with melphalan, cis-diamminedichloroplatinum (II), adriamycin, etoposide and teniposide at 37 degrees C and 42 degrees C, the median T/C% for each chemical agent was decreased significantly by concomitant hyperthermia. One-hour exposure of 38 tumours to melphalan, cis-diamminedichloroplatinum (II) (30 tumours), adriamycin (27 tumours), teniposide (22 tumours) and etoposide (20 tumours) at 37 degrees C gave median T/C%s of 9.5, 33.5, 16.0, 3.8 and 38.0%, respectively, while exposure at 42 degrees C gave values of 2.4, 8.2, 5.6, 1.0 and 6.6%, respectively. Combination of heat and chemical treatment with melphalan, cis-diamminedichloroplatinum (II) and etoposide appeared to be synergistic with median T/C%s that were significantly lower than the median T/C%s expected from a simple sum of their individual effects. These in vitro results suggest that combining the treatment modalities of hyperthermia and chemotherapy for primary retinoblastoma would be advantageous.

Antineoplastic Agents↗
PubMedDate not supplied

Induction of apoptosis by carboplatin and hyperthermia alone or combined in WERI human retinoblastoma cells.

This paper investigated the induction of apoptosis and perturbation of cell cycle progression caused by carboplatin (CPt) and hyperthermia alone or combined in WERI human retinoblastoma cells in vitro. An incubation of the cells with 25 or 50 microm of CPt at 37 degrees C caused apoptosis, which progressively increased during the 24-72 h treatment. Hyperthermia at 42.5 degrees C for 1 h induced apoptosis, which became significant from 24 h after the heating. Heating the cells in the presence of CPt and subsequent incubation with CPt was far more effective than treating the cells with hyperthermia or CPt treatment alone in inducing apoptosis in the WERI cells, indicating that the combination of these two modalities is potentially useful for the treatment of retinoblastoma. It appeared that the apoptosis in WERI cells caused by hyperthermia and CPt occurs during G1 phase. An interesting observation was that caspase 9 activation preceded the release of cytochrome C from mitochondria during apoptosis in WERI cells, contrary to the general notion that caspase 9 is activated by cytochrome C.

Antineoplastic Agents↗
PubMedDate not supplied

Evaluation of the antitumor effects of Herpes simplex virus lacking ribonucleotide reductase in a murine retinoblastoma model.

PURPOSE: To determine if an attenuated herpes simplex virus (HSV) lacking the large subunit of ribonucleotide reductase has antitumor effects in a transgenic mouse model of retinoblastoma (LHbetaTAg). METHODS: LHbetaTAg mice were injected ocularly with 1 x 10(6) pfu of the hrR3 virus and tumor sizes were measured 3 weeks later. Replication of the virus in the eye and cultured murine retinoblastoma cells was tested by titration. Distribution of the virus in tumor was measured by X-gal staining. RESULTS: Intraocular injection of mice with hrR3 (n = 24) did not result in a significant reduction in tumor size compared to uninjected (n = 24) or PBS injected controls (n = 16). Neither the hrR3, nor the HSV RE6 mutant, which was previously shown to have antitumor effects in vivo, replicated in cultured murine tumor cells in vitro, compared to wild-type HSV. The hrR3 virus also did not replicate significantly in tumor cells in vivo, compared to normal eye tissue. CONCLUSIONS: These results suggest that mutant HSV lacking ribonucleotide reductase do not display oncolytic activity in the LHbetaTAg mouse and that this model may not be suitable for studying viral oncolysis as a therapy for retinoblastoma.

Animals↗
PubMed1999

Growth parameters in children with retinoblastoma.

The purpose of this study was to compare growth parameters of retinoblastoma patients with siblings and the normal Dutch population. Height, weight, head circumference and sitting height were measured in 67 patients and 63 controls. Target height was calculated based on the parental height of retinoblastoma patients. Standard deviation scores and population-based percentiles were calculated and used for statistical analysis. Retinoblastoma patients had larger head circumferences than the Dutch population and their siblings, and their weight was also higher than the Dutch population. Height and target height showed no differences from the Dutch population. Retinoblastoma patients had a greater sitting height than the Dutch population. Sample numbers were too small to reach statistical significance when comparing the sitting height of retinoblastoma patients with their siblings. No obvious explanations are available for these differences.

Adolescent↗
PubMedDate not supplied

Glaucoma in retinoblastoma.

The association between retinoblastoma and secondary glaucoma is well known. The most common cause of secondary glaucoma in retinoblastoma is iris neovascularization (NVI) followed by pupillary block and tumor seeding of the anterior chamber. Although glaucoma is a secondary clinical issue in retinoblastoma (RB) management and care, awareness of its presence, revealed by a thorough ocular exam of the anterior segment, can guide the clinician in assessing the overall condition of the affected eye.

Diagnosis, Differential↗
PubMed2004

A 12-year epidemiological review of retinoblastoma in Omani children.

AIM: To describe the epidemiology of retinoblastoma (RB) in Omani children. METHOD: The National Cancer Registry, hospital records, and treatment abroad registers were reviewed to identify the characteristics of Omani children diagnosed with RB between 1990 and 2002. RESULTS: Twenty-nine children (12 male and 17 female) were diagnosed with RB. The age-adjusted incidence was 4.04/million/year in children < 15 years and 8.33/million/year in children < 5 years. The mean age at diagnosis was 32.2 months (33.8 months for unilateral RB and 13.2 months for bilateral RB). 75% had unilateral tumors and 25% had bilateral tumors. The five-year survival rate for RB was 89%. None of the patients had a family history of RB. CONCLUSION: The incidence of RB in Oman is at par with other countries. A definite female preponderance exists in the Omani population. The proportion of unilateral RB cases is unusually high among Omani children. The five-year survival rate is almost at par with that reported in the West. Genetic studies and further longitudinal studies of surviving RB cases could further enhance the knowledge of the epidemiology of RB in Oman.

Adolescent↗
PubMed2006

Atrophic chorioretinal scar and focal scleral bowing following thermochemotherapy with a diode laser for retinoblastoma.

One of the treatment options for intraocular retinoblastoma is thermochemotherapy with diode laser combined with chemotherapy. Very little is known about the evolution of laser scars resulting from diode laser treatment for retinoblastoma. We report a case of atrophic chorioretinal scar and focal scleral bowing after thermochemotherapy with diode laser for retinoblastoma.

Antineoplastic Agents↗