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PubMed1998

Role of chemotherapy alone or in combination with hyperthermia in the primary treatment of intraocular retinoblastoma: preliminary results.

BACKGROUND: The efficacy of the etoposide-carboplatin combination in extraocular retinoblastoma is well known. This drug combination is therefore used in intraocular retinoblastoma, as primary reduction chemotherapy, before local treatment. The use of carboplatin in combination with diode laser hyperthermia as local treatment (thermochemotherapy) has been recently described as a conservative approach avoiding external beam radiotherapy in posterior pole tumours. METHODS: All patients were reviewed, who were treated for retinoblastoma at the Institut Curie between June 1994 and October 1995, in whom treatment included either reduction chemotherapy or thermochemotherapy or both modalities successively. 23 patients presenting with unilateral (three) or bilateral (20) intraocular retinoblastoma received neoadjuvant chemotherapy consisting of two courses of etoposide 150 mg/m2/day and carboplatin 200 mg/m2/day for 3 days. 15 patients (17 eyes), eight of whom had already received neoadjuvant chemotherapy, were treated by thermochemotherapy. RESULTS: Neoadjuvant chemotherapy: overall, seven eyes in seven patients could be treated conservatively, avoiding external beam irradiation, with a median follow up of 14 months. Thermochemotherapy: external beam irradiation was avoided for 14 of the 17 eyes treated. CONCLUSION: Integration of neoadjuvant chemotherapy and combined treatment with carboplatin and diode laser, into the therapeutic armamentarium for retinoblastoma allows use of more aggressive treatments such as enucleation and external beam radiation.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1998

Retinoblastoma associated orbital cellulitis.

AIM: Preseptal and orbital cellulitis are rare presenting features of intraocular retinoblastoma. The objectives of this study were to determine the frequency of retinoblastoma associated cellulitis, as well as to review its clinical and histopathological features. METHODS: The medical records of 292 retinoblastoma patients in the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia were reviewed. Those indicating a history of, or presenting with, cellulitis were retrieved and their clinical, radiological, and histopathological variables were assessed. Patients with definite extraocular tumour extension on clinical or radiological examination were excluded. RESULTS: 14 patients were found to have retinoblastoma associated cellulitis (4.8%); nine had bilateral and five had unilateral retinoblastoma. Conjunctival and blood cultures were performed in 10 cases and were negative. 10 children were treated with intravenous steroids, often in conjunction with antibiotics, resulting in a prompt decrease in inflammation. Three other children were treated with antibiotics alone and one received no treatment. Computed tomographic scanning depicted large intraocular tumours occupying between 80% and 100% of the globe in each case. In eight patients, periocular inflammation was radiologically interpreted as possible extraocular extension. In one patient serial computed tomographic scanning showed a reduction in intraocular calcification over time which occurred in the presence of cellulitis, 12 patients underwent enucleation and histopathological examination revealed large necrotic, poorly differentiated tumours associated with uveal involvement and early optic nerve invasion. Focal perilimbal destruction was seen in one patient, and in another peripapillary extrascleral extension was present. 12 patients are alive with a mean follow up of 56.4 months. CONCLUSIONS: Radiological evaluation of scleral integrity may be hindered by periocular inflammatory changes. The orbital cellulitis correlated well with the presence of advanced intraocular retinoblastoma with massive necrosis and anterior chamber involvement. In the majority of patients, cellulitis was not indicative of an extension of retinoblastoma into the orbit. Intravenous steroid treatment reduced orbital inflammation, facilitating examination and subsequent enucleation.

Cellulitis↗
PubMed1999

Delay in diagnosis of retinoblastoma: risk factors and treatment outcome.

BACKGROUND: Delay in diagnosis of retinoblastoma causes considerable parental distress; however, the primary healthcare professional (PHP) may have difficulty detecting the most common presenting symptom-leucocoria. Alternatively, the PHP may not appreciate that retinoblastoma is the pathology underlying more common ocular symptoms in infants and young children. METHOD: The parents of 100 recently diagnosed patients with retinoblastoma were interviewed to establish the extent of diagnostic delay, ascertain any associated risk factors, and to determine whether or not delay influenced treatment outcome. RESULTS: Although nearly 50% of patients were referred to an ophthalmologist within 1 week of first consulting a PHP, one quarter waited more than 8 weeks. There was a significantly increased risk of diagnostic delay in younger patients, those presenting with squint rather than leucocoria, and those first presenting to a health visitor rather than to a general practitioner. The risk of local tumour invasion was significantly increased by diagnostic delay. Treatment with primary enucleation was not increased by diagnostic delay. There were no deaths during the study period. CONCLUSION: Primary healthcare professionals require education about the importance of ocular symptoms, especially squint, in paediatric patients.

Age Factors↗
PubMed2000

Vasoproliferative tumours of the retina.

BACKGROUND: Vasoproliferative tumours of the retina (VPTR) are benign tumours of unknown origin, occurring mostly in otherwise healthy patients. VPTR may be associated with other chorioretinal diseases, such as uveitis. The tumours, which histologically represent reactive gliovascular proliferations, are characterised by a pink to yellow appearance on funduscopy and are accompanied by exudative and haemorrhagic changes of the retina. METHODS: 22 cases of VPTR in 21 patients were examined with a follow up period between 1 month and 6 years. Ophthalmological changes associated with VPTR were intraretinal and subretinal exudations (n=18), exudative detachments of the surrounding sensory retina (n=13), intraretinal and subretinal haemorrhages (n=10), exudative changes within the macula (n=10), hyperpigmentation of the retinal pigment epithelium at the border of the exudative retinal changes (n=9), and vitreous haemorrhages (n=4). Tumour biopsy was performed in two cases. Treatment consisted of plaque radiotherapy (n=14), plaque radiotherapy and cryotherapy (two), cryotherapy only (two), observation (three), and enucleation in one case of a blind and painful eye. RESULTS: Regression of the tumour and the associated exudative changes could be observed in all treated cases. Visual acuity at last follow up improved two lines or more in two cases, remained within two lines of the initial visual acuity in 15 cases, and worsened in the remaining five. Histopathological examination of the biopsy specimens and the tumour of the enucleated eye showed massive capillary proliferation with perivascular spindle-shaped glial cells of retinal origin. CONCLUSION: The correct diagnosis of VPTR is of importance as these lesions may lead to visual loss. Further, VPTR must be differentiated from angiomas associated with von Hippel-Lindau disease as well as from ocular and systemic malignancies. Regression of tumour thickness and associated retinal changes can be achieved with brachytherapy or cryotherapy.

Adolescent↗
PubMed2000

At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98.

AIM: To evaluate until what age children in families with retinoblastoma should be screened. METHODS: A register based cohort (n= 685) study of Dutch retinoblastoma patients (1945-1998). The records of all familial hereditary retinoblastoma patients from 1945 were reviewed and the age at diagnosis and either they were screened from birth determined. RESULTS: 75 patients had the familial hereditary form of retinoblastoma. The mean age at diagnosis in patients with fundus screening (n=50) from birth on was 4.9 months (median 1.9 months; range 1 day to 48 months). Thus, 4 years was the latest onset of familial retinoblastoma properly evaluated from birth. This mean age was significantly different (p<0.0001) from the mean age at diagnosis in patients without fundus screening (n=25) from birth (mean 17.2 months; median 10.0 months; range 1.5-63.0 months). CONCLUSIONS: Ophthalmological screening of children and sibs at risk for familial hereditary retinoblastoma is recommended until the age of 4 years in order to detect retinoblastoma as early as possible.

Age Factors↗
PubMed2002

Retinoblastoma treated with primary chemotherapy alone: the significance of tumour size, location, and age.

AIMS: To evaluate how tumour size, retinal location, and patient age affect the outcome of retinoblastoma foci treated with chemotherapy. METHODS: Retrospective review of retinoblastoma foci treated with primary chemotherapy alone. Individual tumours were coded with regard to their largest basal diameter, location within the eye (macula, macula to equator, equator to ora serrata), and patient's age at diagnosis. Successfully treated tumours required no further intervention while those requiring additional treatment were coded as failures. RESULTS: 56 (72%) tumours responded successfully to chemotherapy alone while 22 (28%) required additional therapy. 26 of 31 macular tumours (84%) and 30 of 47 extramacular tumours (64%) responded to chemotherapy (p <0.060). Relative to size, 46 of 60 tumours (77%) greater than 2 mm in basal diameter were successfully treated with chemotherapy, while only 10 of 18 tumours (56%) less than or equal to 2 mm responded (p <0.088). Among the eight tumour foci diagnosed in children less than 2 months of age, five (63%) failed to respond to chemotherapy alone (p <0.032). CONCLUSION: Retinoblastoma is more likely to respond to primary chemotherapy if it is located in the macula and if the patient is older than 2 months of age. Tumours measuring less than 2 mm in diameter may be less responsive to this treatment.

Age Factors↗
PubMed2002

Three dimensional ultrasound of retinoblastoma: initial experience.

AIM: To use 3D ultrasonography (3DUS) for the diagnosis of retinoblastoma. METHODS: Five eyes of three children with retinoblastoma were evaluated using a commercially available computerised 3DUS system. Interactive sectioning of the stored and reconstructed 3D volumes were performed. 3DUS and histopathological findings were correlated after enucleation. RESULTS: 3DUS examination revealed characteristics consistent with retinoblastoma: endophytic mass, retinal detachment, intratumoural calcifications, and secondary orbital shadowing. Unlike 2D imaging, 3DUS allowed for analysis of the acquired and stored volumes. Rotation and sectioning of this volume allowed the discovery of new oblique and coronal views. For example, calcium related orbital shadows were seen as 3D volumes and (coronal) cross sections of the optic nerve were evaluated for evidence of intraneural invasion by retinoblastoma. CONCLUSION: This is the first reported series of patients examined with 3DUS imaging for retinoblastoma. This technique allowed for new oblique and coronal views of the tumour and optic nerve. The ability to retrospectively analyse the (scanned and stored) ocular volume facilitated patient care, teaching, tumour-volume analysis, and telemedicine.

Female↗
PubMed2003

Retinoblastoma: Abnormal gadolinium enhancement of anterior segment of eyes at MR imaging with clinical and histopathologic correlation.

PURPOSE: To evaluate abnormal gadolinium enhancement of the anterior segment of eyes harboring retinoblastoma at magnetic resonance (MR) imaging and correlate this finding with clinical and histopathologic information. MATERIALS AND METHODS: Three neuroradiologists examined 46 eyes with 34 retinoblastomas in 25 children on gadolinium-enhanced T1-weighted orbital MR images obtained shortly after contrast material injection for evidence of abnormally high signal intensity in the anterior segment. Twenty-two of the 34 affected eyes were enucleated, and six of these 22 eyes were treated with preenucleation adjuvant therapy. Thus, correlation of the clinical, MR imaging, and histopathologic findings in 16 eyes was performed. Statistical analysis was performed with nonparametric methods (Fisher exact test). P <.05 indicated a statistically significant difference. RESULTS: Fourteen of the 34 affected eyes showed abnormal gadolinium enhancement of the anterior segment. Regarding the 16 eyes evaluated for statistical analysis, a significant correlation (P =.011) between abnormal gadolinium enhancement of the anterior segment and histopathologically documented optic nerve infiltration was noted. A trend toward an association between abnormal enhancement and elevated intraocular pressure (P =.215), tumor growth beyond the equator at MR imaging (P =.125), and histopathologically proved iris neoangiogenesis (P =.182) also was noted. Histopathologic evidence of optic nerve and/or choroid infiltration correlated significantly (P =.001; sensitivity, 100% [nine of nine eyes]; specificity, 86% [six of seven eyes]) with abnormal enhancement. CONCLUSION: Abnormal gadolinium enhancement of the anterior segments of eyes harboring retinoblastoma seems to indicate more aggressive tumor behavior.

Anterior Chamber↗
PubMed2005

Retinoblastoma: MR imaging parameters in detection of tumor extent.

PURPOSE: To assess diagnostic accuracy of preoperatively performed magnetic resonance (MR) imaging for detection of tumor extent in a large patient population with histopathologically proved retinoblastoma. MATERIALS AND METHODS: Local ethics committee approval and informed consent were not required for retrospective review of patients' images and records. Fifty-eight eyes in 28 girls (mean age, 21 months; range, 2-59 months) and 28 boys (mean age, 24 months; range, 2-76 months) with retinoblastoma were retrospectively reviewed by one radiologist on unenhanced T1-weighted, dual-echo T2-weighted, and gadolinium-enhanced T1-weighted MR images. MR imaging parameters such as growth pattern, anterior chamber hyperintensity, and involvement of choroid, ciliary body, optic nerve, sclera, orbital fat, and pineal gland were determined. Tumor volume was measured and correlated to metastatic risk factors. Imaging and pathologic findings were compared. Statistical analysis was performed by using logistic regression with log likelihood ratio chi(2) test or Fisher exact test. RESULTS: Choroidal invasion was suspected with MR imaging in 21 eyes; findings were false-positive in 13 eyes and false-negative in three (73% sensitivity, 72% specificity, 72% accuracy). Anterior chamber hyperintensity on T1-weighted MR images obtained after contrast agent administration correlated well with clinical presence of reactive neovascular processes. MR imaging findings were true-positive in 21 of 32 eyes with proved prelaminar optic nerve invasion (66% sensitivity) and false-positive in one (96% specificity, 79% accuracy). Postlaminar optic nerve invasion was correctly detected in two eyes; in two other eyes, this metastatic risk factor was missed (50% sensitivity, 100% specificity, 97% accuracy). Scleral and extrascleral tumor invasion were correctly excluded in all eyes. Tumor volume was statistically associated with prelaminar optic nerve invasion (P = .001) and choroidal invasion (P = .031). CONCLUSION: MR imaging is accurate for tumor staging and detection of metastatic risk factors; detection of intraocular tumor infiltration remains difficult. Tumor volume, measured with MR imaging, was associated with prelaminar optic nerve and choroidal involvement.

Child↗
PubMed2004

Visible light exposure induces VEGF gene expression through activation of retinoic acid receptor-alpha in retinoblastoma Y79 cells.

Neovascularization of the retina and choroids is the pathological hallmark of many retinopathies, but its molecular mechanisms remain unclear. Vascular endothelial growth factor (VEGF), which is induced by hypoxia or cytokines, plays a critical role in the abnormal growth of blood vessels. In this study, we report that visible light exposure induces VEGF gene expression in retinoblastoma Y79 cells. Fluorescent light exposure (700 lux, wavelength 400 approximately 740 nm) caused a significant increase in VEGF transcripts and protein levels. Such an induction seemed to be specific to certain cells, including photoreceptor cells, because light-induced VEGF expression was not observed in either nontransformed cells, such as retinal pigment epithelium cells, and bovine aortic endothelial cells or transformed cells, such as CV-1 and HepG2 cells. Pertussis toxin and guanosine 5'-[beta-thio]diphosphate, specific inhibitors for rhodopsin-associated G protein, blunted this induction. Progressive deletion and site-specific mutation analyses indicate that light stimulation increases VEGF promoter activity through G+C-rich sequence, which is proven by Sp1 binding sites by supershift assays. Electrophoretic mobility shift assays show that light stimulation increases Sp1 binding. Synthetic retinoic acid receptor-alpha (RARalpha) antagonist completely abrogated light-mediated increase in VEGF expression. Transfection of Y79 cells with dominant negative mutant of RARalpha significantly attenuated the light-mediated induction of VEGF promoter activity. In conclusion, our data indicate that light exposure increases VEGF expression through the mechanisms involving activation of Sp1 and RARalpha signaling in Y79 cells. This study provides new insight into the role of visible light in the transcription and induction of VEGF gene expression.

Animals↗
PubMed2005

The retinoic acid synthesis gene ALDH1a2 is a candidate tumor suppressor in prostate cancer.

Prostate cancer is the most common cancer among men in the United States, and aberrant DNA methylation is known to be an early molecular event in its development. Here, we have used expression profiling to identify novel hypermethylated genes whose expression is induced by treatment of prostate cancer cell lines with the DNA methyltransferase inhibitor 5-Aza-2'-deoxycytidine (5-aza-dC). Of the 271 genes that were induced by 5-aza-dC treatment, 25 also displayed reduced expression in primary prostate tumors compared with normal prostate tissue, and the decreased expression of only one gene, aldehyde dehydrogenase 1 family, member A2 (ALDH1a2), was also associated with shorter recurrence-free survival. ALDH1a2 encodes an enzyme responsible for synthesis of retinoic acid (RA), a compound with prodifferentiation properties. By immunohistochemistry, we observed that ALDH1a2 was expressed in epithelia from normal prostate but not prostate cancer. Using bisulfite sequencing, we determined that the ALDH1a2 promoter region was significantly hypermethylated in primary prostate tumors compared with normal prostate specimens (P = 0.01). Finally, transfection-mediated reexpression of wild-type ALDH1a2 (but not a presumptive catalytically dead mutant) in the prostate cancer cell line DU145 resulted in decreased colony growth (P < 0.0001), comparable with treatment with either 5-aza-dC or RA. Taken together, our findings implicate ALDH1a2 as a candidate tumor suppressor gene in prostate cancer and further support a role of retinoids in the prevention or treatment of prostate cancer.

Aldehyde Dehydrogenase↗
PubMed2006

Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma.

The hereditary form of retinoblastoma (Rb) is associated with a germ line mutation in one RB allele and is characterized by the occurrence of multiple, bilateral Rb tumors and a predisposition to the development of second cancers. In an earlier study, we observed an unexpected hypersensitivity to ionizing radiation in skin fibroblasts derived from unaffected parents of children with hereditary Rb. In at least four of these five families, there was no family history of Rb, indicating a new germ line mutation. We hypothesize that the increased parental cell sensitivity to radiation may reflect the presence of an as yet unrecognized genetic abnormality occurring in one or both parents of children with Rb. In the present study, we use DNA microarray technology to determine whether differences in gene expression profiles occurred in the unaffected parents of patients with hereditary Rb relative to normal individuals. Microarray analyses were validated by quantitative reverse transcription-PCR measurements. A distinct difference was observed in the patterns of gene expression between unaffected Rb parents and normal controls. By use of the prediction analysis for microarrays and principal component analysis methodologies, significant differences between the two groups were identified when as few as nine genes were analyzed. Further study of this phenomenon may offer a new insight into the genetic mechanisms of Rb and perhaps more broadly in cancer biology.

Adult↗
PubMed2007

Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.

In addition to RB1 gene mutations, retinoblastomas frequently show gains of 1q and 6p and losses of 16q. To identify suppressor genes on 16q, we analyzed 22 short tandem repeat loci in 58 patients with known RB1 mutations. A subset of tumors was also investigated by conventional and matrix comparative genomic hybridization. In 40 of 58 (69%) tumors, we found no loss of heterozygosity (LOH) at any 16q marker. LOH was detected in 18 of 58 (31%) tumors, including five with allelic imbalance at some markers. In one tumor LOH was only observed at 16q24. As the parental origin of allele loss was unbiased, an imprinted locus is unlikely to be involved. Analysis of gene expression by microarray hybridization and quantitative RT real-time PCR did not identify a candidate suppressor in 16q24. Cadherin 13 (CDH13), CBFA2T3, and WFDC1, which are candidate suppressors in other tumor entities with 16q24 loss, did not show loss of expression. In addition, mutation and methylation analysis showed no somatic alteration of CDH13. Results in all tumors with chromosome 16 alterations define a single minimal deleted region of 5.7 Mb in the telomeric part of 16q24 with the centromeric boundary defined by retention of heterozygosity for a single nucleotide variant in exon 10 of CDH13 (Mb 82.7). Interestingly, clinical presentation of tumors with and without 16q alterations was distinct. Specifically, almost all retinoblastomas with 16q24 loss showed diffuse intraocular seeding. This suggests that genetic alterations in the minimal deleted region are associated with impaired cell-to-cell adhesion.

Cadherins↗