Systematic review of the current status of programs and general knowledge of diagnosis and management of retinoblastoma / Revisión sistemática del estado actual de los programas y conocimiento general de la diagnosis y manejo de retinoblastoma

Abstract: Background: This systematic review aims to report the current knowledge of retinoblastoma (Rb) and its implications in Mexico. We analyzed clinical and demographic data of patients with Rb at select hospitals with Rb programs or that treat and refer patients with Rb, and identified the gaps in practice. We propose solutions to improve diagnosis, provide adequate treatment, and improve patient uptake. Methods: A general review was conducted on PubMed of peer-reviewed literature on Rb in Mexico. Ophthalmology Department Heads or Directors of Rb programs at seven hospitals in Mexico were contacted for data available on their patients with Rb. Results: Five hospitals provided clinical data on 777 patients with Rb in a period spanning 2000-2015. Of the 122 patients with treatment, 83.4% underwent enucleation. From 33 to 45.3% of Rb tumors in Mexico reach an advanced intraocular stage of development. Knowledge of the disease is limited, despite the fact that the Mexican Retinoblastoma Group has elaborated Rb treatment guidelines and is developing a national Rb registry. Especially in the Southern states, prevalence and outcomes are comparable to African and Asian countries, and only few patients are referred to national treatment centers. Only three institutions have comprehensive Rb programs. Conclusions: There is an immediate need in Mexico to expand primary care providers' knowledge of Rb and to expand and upgrade current Rb programs to meet the needs of the population adequately. Diagnosis and care of Rb patients in Mexico can also be improved by the establishment of a national Rb registry and a national early detection program, and by increased use of the national treatment protocol.

Resumen: Introducción: Esta es una revisión sistemática de los conocimientos actuales del retinoblastoma (Rb) y sus implicaciones en los centros de referencia más importantes del país. Se presenta un análisis situacional de los programas de Rb en México, se identificaron las brechas en la práctica, y se proponen soluciones para mejorar el diagnóstico, tratamiento y referencia oportuna de pacientes. Métodos: Se realizó una revisión general de la literatura publicada sobre Rb en México a través de PubMed. Los datos sociodemográficos de pacientes con Rb fueron obtenidos a través de los directores de programas de retinoblastoma en siete hospitales. Resultados: Casi una tercera parte de los casos Rb se diagnostican en estadios avanzados. A pesar de la existencia del Grupo Mexicano de Retinoblastoma, el conocimiento de esta patología entre los médicos es limitado. Las diferencias en el tratamiento son notorias en el sur del país, donde la prevalencia y los resultados son comparables con África y Asia. Solamente tres instituciones a nivel nacional tienen un programa establecido de Rb. Conclusiones: Existe la necesidad inmediata de consolidar los programas de Rb para cubrir las necesidades reales de la población. Se requiere mejorar la educación del médico de primer contacto, establecer el registro nacional de casos y el programa de detección temprana, establecer los programas de salvamento ocular nacional, y reforzar las instituciones que brindan tratamiento.

Compliance in retinoblastoma.

Objective. To evaluate compliance to treatment in advanced retinoblastoma. Methods. This is a retrospective descriptive study of patients of retinoblastoma registered at our cancer center from June 2003-February 2007 to study compliance. Results. Sociodemographic data of 177 patients revealed rural:urban ratio of 2:1, median age 36 months (unilateral disease) and 24 months (bilateral disease); median symptom duration 7.2 months. Overall, 84/141 evalued cases took adequate therapy; follow-up could be achieved in 67/141 (47.5%) cases in comparison to 92.4% in Hodgkin’s lymphoma (p=0.001), 62.8% in acute myeloid leukemia (p=0.036) and 72.7% in non Hodgkin’s lymphoma (p=0.001). There was no significant impact of any sociodemographic factors on compliance. Amongst those offered enucleation upfront for intraocular disease, it was accepted in 86/93 (92.5%) eyes. Conclusions. This is one of the largest studies in relation to sociodemographic factors and clinical spectrum, and the only study from Asia evaluating compliance with recommended therapy in retinoblastoma. In order to improve ocular and patient salvage rates in Asian countries, exact causes for poor compliance in retinoblastoma need to be closely examined through a prospective study.

Retinoblastoma en pediatría, experiencia en un hospital pediátrico / Retinoblastoma in children, experience at a pediatric hospital

Methods: Retrospective analysis of clinical charts of 41 children (59 eyes) diagnosed with retinoblastoma and treated by a multidisciplinary team at Hospital Luis Calvo Mackenna in Santiago-Chile, between 1999 and 2007. The information included gender, laterality, diagnosis age, presenting signs, tumor spread, treatment modality and survival rate. Results: A total of 23 cases (56 percent) were unilateral and 18 cases (44 percent) were bilateral. The mean age at diagnosis was 21.6 months (range 2 - 84) and 27 children (65.9 percent) were male. The most common presenting signs were leucokoria (51.2 percent), strabismus (24.4 percent) and proptosis (4.9 percent). Enucleation was performed in 48 eyes (81.3 percent), being the only required treatment in 17 children (41.5 percent). The remaining 24 patients received systemic and/or local therapy with chemotherapy, focal therapy and external beam radiation. 5 children died during the follow - up study period, due to extraocular extension to the orbit, central nervous system and bone marrow. Conclusion: In spite of high enucleation rate as initial therapy for retinoblastoma, the survival rate with this current treatment protocol is similar to those from developed countries.

Se presenta un estudio retrospectivo de las fichas clínicas de 41 niños (59 ojos) con diagnóstico de retinoblastoma tratados por un equipo multidisciplinario en el Hospital Luis Calvo Mackenna, Santiago, Chile, entre los a±os 1999-2007. Se recolectó información respecto al género, edad al diagnóstico, signos de presentación, lateralidad, diseminación del tumor, tipos de tratamiento y sobrevida. Veintitrés casos (56 por ciento) fueron unilaterales y 18 (44 por ciento) bilaterales. La edad promedio al momento del diagnóstico fue de 21,6 meses (rango 2-84) y 27 niños (65,9 por ciento) fueron hombres. Los signos de presentación más frecuentes fueron leucocoria (51,2 por ciento), estrabismo (24,4 por ciento) y proptosis (4,9 por ciento). Se realizó enucleación en 48 ojos afectados (81,3 por ciento), siendo el único tratamiento necesario en 17 niños (41,5 por ciento). Los 24 pacientes restantes recibieron tratamientos complementarios locales y/o sistémicos en la modalidad de quimioterapia, terapia focal y radioterapia externa. Durante el período de seguimiento del estudio fallecieron 5 niños, todos ellos con extensión extraocular de la enfermedad hacia la órbita, sistema nervioso central o médula ósea. Conclusiones: No obstante el alto porcentaje de pacientes con retinoblastoma que requieren enucleación como terapia inicial, la tasa de sobrevida con el protocolo actual de tratamiento es comparable a la de países desarrollados.

Retinoblastoma in Nepal: a clinical profile of 30 cases.

To determine the clinical profile of retinoblastoma and to provide baseline data for further studies on this subject. Prospective evaluation of 30 consecutive patients with retinoblastoma admitted at the B. P. Koirala Lions Center for Ophthalmic Studies, Kathmandu, Nepal, between October 1998 and July 2000 was carried out. Age, sex, laterality and time from onset of symptoms to diagnosis (lag time) were noted. Ancillary tests were undertaken to rule out metastasis. Male to female ratio was 1.1:1 and the median age of presentation was 3.1 years. Of 30 cases, 23 (76.6%) had unilateral involvement. Leukocoria was the presenting sign in 13 cases (43.3%) and fungating mass in 10 cases (33.3%). In 11 (36.7%), the latency period from onset of symptoms to diagnosis was 6-12 months. In bilateral cases, advanced disease was treated surgically and the fellow eye was treated with cryotherapy, photocoagulation and chemotherapy. Histopathological examination of 21 (70.0%) enucleated/exenterated cases revealed a poorly differentiated type of retinoblastoma. This is the first study of retinoblastoma from Nepal. Early diagnosis of this disease when it is localized to the eye is important to salvage the life of the child. An informational program directed toward the public in general, as well as careful screening of any white pupillary reflex by the pediatrician and/or primary health worker will encourage and support early diagnosis.

Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India.

PURPOSE: To determine chromosomal abnormalities and inheritance pattern in patients with retinoblastoma from a referral hospital in southern India. MATERIALS AND METHODS: Eighty-one retinoblastoma patients from 78 families were included in this study. Peripheral venous blood was taken for chromosomal analysis and pedigree was ascertained for segregation analysis. RESULTS: Male to female ratio was 1.7:1, 55.56% were bilateral retinoblastoma, the mean age of onset was 12.37 months in bilateral and 33.07 months in unilateral cases (p=0.048). Majority (90.12%) had sporadic inheritance and 6.17% had autosomal dominant inheritance. In chromosomal abnormalities, 8.33% had 13q14 deletion, three cases had de novo balanced translocations. CONCLUSION: The age of onset of the disease was much earlier in the bilateral cases compared to unilateral cases. Sporadic inheritance was predominant while only a small percentage of patients had autosomal dominant inheritance. The percentage of patients with 13q14 deletion was higher than reported in the literature and three novel chromosomal translocations were observed. This is one of the largest series of cases reported from India.

Spider angiomas are not found in the retina of patients with cirrhosis.

To determine the prevalence of spider angiomata in patients with cirrhosis, the factors influencing them and whether or not they are present in the retina of patients with cirrhosis, 93 cirrhotics were studied. Cutaneous spider angioma were seen in 19 (20%) patients. All patients with spiders had at least one episode of variceal bleeding and had grade III or IV oesophageal varices. Spiders were seen more commonly in patients with alcoholic cirrhosis than in those with non-alcoholic cirrhosis (53.5% vs 6%, p < 0.001), in patients with Child's C cirrhosis than those with Child's A and B cirrhosis (67% vs 4%, p < 0.001). However, although spiders were seen more often in patients undergoing sclerotherapy than those not, the difference was statistically not significant (23% vs 19%, p = NS). Spiders had no association with presence or absence of portal hypertensive gastropathy or gastric varices. None of the patients showed any abnormality or presence of spiders in the retina. It is concluded that spider angiomas are seen more commonly in patients with alcoholic cirrhosis, those with more severe liver disease and patients having large oesophageal varices and they are not seen in the retina of patients with cirrhosis.