Retinoblastoma

BACKGROUND: Superselective delivery of chemotherapy through the ophthalmic artery, i.e. ophthalmic artery chemosurgery, has been used for the treatment of advanced intraocular retinoblastoma. Herein, we evaluate the efficacy of ophthalmic artery chemosurgery for retinoblastoma associated with >50% retinal detachment. PROCEDURE: Retrospective review of 37 eyes of 34 retinoblastoma patients who had extensive (>50%) bullous non-rhegmatogenous retinal detachments and received ophthalmic artery chemosurgery either as primary treatment or as "salvage" treatment after failed multi-cycle intravenous chemotherapy and/or external beam radiation (mean follow-up, 21 months). Data on patient and ocular survival, complications of ophthalmic artery chemosurgery treatments, time course of retinal reattachment, and serial electroretinograms (ERG) were collected. RESULTS: A total of 134 ophthalmic artery chemosurgery injections were performed. All children survive. Five eyes (5/37; 14...

Background: The relationship between lag time and outcomes in retinoblastoma (RB) is unclear. In this study, we aimed to study the effect of lag time between onset of symptoms and diagnosis of retinoblastoma (RB) in countries based on their national-income and analyse its effect on the outcomes. Methods: We performed a prospective study of 692 patients from 11 RB centres in 10 countries from 1 January 2019 to 31 December 2019. Results: The following factors were significantly different among different countries based on national-income level: age at diagnosis of RB (p = 0.001), distance from home to nearest primary healthcare centre (p = 0.03) and mean lag time between detection of first symptom to visit to RB treatment centre (p = 0.0007). After adjusting for country income, increased lag time between onset of symptoms and diagnosis of RB was associated with higher chances of an advanced tumour at presentation (p < 0.001), higher chances of high-risk histopathology features (p =...

Introduction: Retinoblastoma is one of the leading cancers in children below 5 years, leaving an ocular defect after enucleation. The loss of an eye requires early replacement so that socket contraction is minimal, growth of surrounding tissues is less retarted and the patient may return to a normal social life. Primary placement (at the time of enucleation) of hydroxyapatite intraocular implants is done in order to prevent volume defi cit and increase motility of the prosthesis. Exposure of this implant is a common complication where the amount of exposure usually decides the treatment modality. Large exposures requires surgical correction whereas small exposures may be managed conservatively.

An overview of a rare clinical case of a tonsillar lymphoangiomatous polyp in a patient with a history of retinoblastoma. A sample of tonsillar tissue was taken for histological review and appropriate stainings applied to establish the aetiology of the condition and exclude certain malignancies.

BackgroundAlthough screening for familial retinoblastoma has been shown to be beneficial we suspected that such screening programs may be less than optimal in developing countries (DC).Although screening for familial retinoblastoma has been shown to be beneficial we suspected that such screening programs may be less than optimal in developing countries (DC).MethodsRetrospective cohort study comparing patients with familial retinoblastoma from five centers in DC (Argentina, Brazil, Turkey, Jordan, and Venezuela) versus a reference center in the USA.Retrospective cohort study comparing patients with familial retinoblastoma from five centers in DC (Argentina, Brazil, Turkey, Jordan, and Venezuela) versus a reference center in the USA.ResultsNinety-two (32 from the USA and 60 from DC) patients were included. Forty-one (44.6%) patients avoided enucleation, 42 (45.7%) had 1 eye removed, and 9 (9.8%) underwent bilateral enucleation. Eleven (11.9%) had major pathology risk factors at enucleation. There were no cases of metastatic disease at diagnosis. Detection via screening was significantly less common in DC than in the USA (23.3% vs. 71.8%, P < 0.0001). Patients in DC were diagnosed at a significantly later age and with more advanced intraocular disease that led to increased risk of bilateral enucleation. Patients detected by screening in DC were significantly younger at diagnosis, had less advanced intraocular disease, better ocular preservation rates and survival results than those whose retinoblastoma was not detected via early screening. Five-year pEFS was 0.92 for the patients treated in the USA and 0.81 for the patients in DC (P = 0.42). Seven events occurred (extraocular relapse four in patients from DC and second malignancies in three).Ninety-two (32 from the USA and 60 from DC) patients were included. Forty-one (44.6%) patients avoided enucleation, 42 (45.7%) had 1 eye removed, and 9 (9.8%) underwent bilateral enucleation. Eleven (11.9%) had major pathology risk factors at enucleation. There were no cases of metastatic disease at diagnosis. Detection via screening was significantly less common in DC than in the USA (23.3% vs. 71.8%, P < 0.0001). Patients in DC were diagnosed at a significantly later age and with more advanced intraocular disease that led to increased risk of bilateral enucleation. Patients detected by screening in DC were significantly younger at diagnosis, had less advanced intraocular disease, better ocular preservation rates and survival results than those whose retinoblastoma was not detected via early screening. Five-year pEFS was 0.92 for the patients treated in the USA and 0.81 for the patients in DC (P = 0.42). Seven events occurred (extraocular relapse four in patients from DC and second malignancies in three).ConclusionsPatients with familial retinoblastoma are less likely to be diagnosed by screening in DC and had higher morbidity and mortality caused by recurrent extraocular retinoblastoma. Pediatr Blood Cancer 2009;53:338–342. © 2009 Wiley-Liss, Inc.Patients with familial retinoblastoma are less likely to be diagnosed by screening in DC and had higher morbidity and mortality caused by recurrent extraocular retinoblastoma. Pediatr Blood Cancer 2009;53:338–342. © 2009 Wiley-Liss, Inc.

While fairly complete and reliable incident data on childhood cancers are available from the registries in India, mortality and survival information is not. Information concerning the latter was obtained by the Bangalore cancer registry through active follow-up involving visits to homes of patients. Between 1982 and 1989, 617 cases of cancers in childhood were registered, giving an age-standardized incidence rate of 84.8 and 48.4 per million in male and female children, respectively. Active follow-up provided mortality/survival information in 532 or 86.2 percent of these cases. Overall, observed five-year survival was 36.8 percent (both genders combined) with a relative survival of 37.5 percent when childhood mortality in the general population was taken into account. The five-year relative survival was best for thyroid carcinoma (100 percent) followed by Hodgkin's disease (73 percent) and retinoblastoma (72.9 percent). Survival was comparatively low, being 9.9 percent in acute nonlymphatic leukemia and less than 20 percent in rhabdomyosarcoma and the category grouped as ‘other malignant neoplasms.’ Survival in Hodgkin's disease was influenced by clinical stage at presentation, but was not statistically significant possibly due to small numbers.

The Rb protein is a tumor suppressor, which plays a pivotal role in the negative control of the cell cycle and in tumor progression. It has been shown that Rb protein (pRb) is responsible for a major G1 checkpoint, blocking S-phase entry and cell growth. The retinoblastoma family includes three members, Rb/p105, p107 and Rb2/p130, collectively referred to as &amp;#39;pocket proteins&amp;#39;. The pRb protein represses gene transcription, required for transition from G1 to S phase, by directly binding to the transactivation domain of E2F and by binding to the promoter of these genes as a complex with E2F. pRb represses transcription also by remodeling chromatin structure through interaction with proteins such as hBRM, BRG1, HDAC1 and SUV39H1, which are involved in nucleosome remodeling, histone acetylation/deacetylation and methylation, respectively. Loss of pRb functions may induce cell cycle deregulation and so lead to a malignant phenotype. Gene inactivation of pRB through chromosomal mutations is one of the principal reasons for retinoblastoma tumor development. Functional inactivation of pRb by viral oncoprotein binding is also shown in many neoplasias such as cervical cancer, mesothelioma and AIDS-related Burkitt&amp;#39;s lymphoma.

Background: Early diagnosis and timely management of Retinoblastoma (RB) patients are essential to improve eye salvage and survival rates. The objective of this study is to evaluate the level of knowledge regarding retinoblastoma among first-contact physicians, namely students in last year of medical school, pediatricians, and ophthalmologists. Methods: A questionnaire about RB, preluded by a photograph of a child with leukocoria was completed by 138 medical students, 65 pediatricians, and 65 ophthalmologists. Descriptive statistics from the population were obtained and all answers were analyzed. Results: The majority (n = 253, 94%) of participants in the 3 groups recognized leukocoria as an abnormal sign. However, 62 (45%) medical students did not recognize it as a sign of a life-threatening disease. Only 3 (2%) medical students, 1(2%) pediatrician, and 9 (14%) ophthalmologists achieved a proficiency grade, compared to 136 (67%) medical students and pediatricians who failed to achieve the sufficiency score (70%) in this questionnaire. Ophthalmologists showed a better level of knowledge about RB than medical students and pediatricians, however, 27(42%) of them failed to achieve the sufficiency score. Of interest, only 72 (52%) of medical students, 41 (63%) of pediatricians, and 46 (71%) of ophthalmologists knew that RB needs urgent management. Conclusion: Most medical students and pediatricians involved in this study lack the sufficient knowledge to detect and timely-refer patients with signs of RB. It is necessary to develop continuous medical education programs for first-contact physicians.