Actualización en retinoblastoma / Updates in retinoblastoma

El retinoblastoma es un tumor de baja frecuencia, que se manifiesta por leucocoria o estrabismo. El pronóstico de la enfermedad es dramáticamente distinto si el diagnóstico es hecho tempranamente, por lo que nuevas estrategias por promover su diagnóstico precoz y tratamiento multidisciplinario están cobrando especial importancia en países en vías de desarrollo, que aún presentan elevadas tasas de mortalidad de la enfermedad.

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.

A proposal for an international retinoblastoma staging system.

BACKGROUND: Although intra-retinal tumor has long been staged presurgically according to the Reese-Ellsworth (R-E) system, retinoblastoma differs from other pediatric neoplasms in never having had a widely accepted classification system that encompasses the entire spectrum of the disease. Comparisons among studies that consider disease extension, risk factors for extra-ocular relapse, and response to therapy require a universally accepted staging system for extra-ocular disease. PROCEDURE: A committee of retinoblastoma experts from large centers worldwide has developed a consensus classification that can encompass all retinoblastoma cases and is presented herein. Patients are classified according to extent of disease and the presence of overt extra-ocular extension. In addition, a proposal for substaging considering histopathological features of enucleated specimens is presented to further discriminate between Stage I and II patients. RESULTS: The following is a summary of the classification system developed-Stage 0: Patients treated conservatively (subject to presurgical ophthalmologic classifications); Stage I: Eye enucleated, completely resected histologically; Stage II: Eye enucleated, microscopic residual tumor; Stage III: Regional extension [(a) overt orbital disease, (b) preauricular or cervical lymph node extension]; Stage IV: Metastatic disease [(a) hematogenous metastasis: (1) single lesion, (2) multiple lesions; (b) CNS extension: (1) prechiasmatic lesion, (2) CNS mass, (3) leptomeningeal disease]. A proposal is also presented for substaging of enucleated Stages I and II eyes. CONCLUSIONS: The proposed staging system is the product of an international effort to adopt a uniform staging system for patients with retinoblastoma to cover the whole spectrum of the disease.

Extraocular retinoblastoma: A 13-year experience

The current study was performed to evaluate two regimens of treatment and to describe clinical and epidemiologic characteristics in patients with extraocular retinoblastoma. Eighty-three patients with extraocular retinoblastoma according to Childrens Cancer Group (CCG) classification were admitted to the Pediatric Department of the A. C. Camargo between 1987-2000. The age, gender, race, lag time, first clinical presentation, staging, laterality, and treatment regimen were analyzed. Treatment was comprised of cisplatin, teniposide, vincristine, doxorubicin, and cyclophosphamide during the first treatment period (1987-1991) or cisplatin and teniposide with alternating courses of ifosfamide and etoposide during the second treatment period (1992-2000). The mean age of the patients was 32.9 months (range, 2-145 months). The mean lag time was 10.5 months. Forty-three patients were treated in the first period and 40 patients were treated in the second period. Locally advanced tumors (Class I-III) were present in 83.1% of the patients. There was a positive correlation between lag time and age for unilateral tumors (correlation coefficient [r] = 0.35; P = 0.006), whereas the correlation was negative for bilateral tumors (r = -0.12; P = 0.63). The 5-year overall survival was 55.1% in the first treatment period and 59.4% in the second treatment period (P = 0.69).

No significant differences with regard to survival rates were noted for unilateral tumors between the two treatment periods (44.6 noted for unilateral tumors vs. 59.1 noted for unilateral tumors). In the current study, the addition of ifosfamide and etoposide to a treatment regimen comprised of cisplatin, teniposide, vincristine, doxorubicin, and cyclophosphamide did not appear to improve the survival of patients with extraocular retinoblastoma. Patients with dissemination to the central nervous system or metastatic disease remain incurable and die of progressive disease, despite the aggressive treatment. A multicenter trial should be considered to evaluate the best strategy for these situations.

Tumores y pseudotumores de globo ocular / Tumors and pseudotumors of the eye

Se hace una revision retrospectiva y transversal de las biopsias remitidas en el Servicio de Anatomia Patologica en el Hospital de Clinicas Universitario de la ciudad de La Paz entre enero de 1980 a diciembre de 1990. Registrandose 8050 biopsias quirurgicas, 99 casos remitidos del Instituto Nacional de Oftalmologia que fueron clasificados de acuerdo a parametros establecidos por la OMS, identificandose 9 casos de tumores malignos, 7 retinoblastomas y 2 melanomas. Que constituyen el 7,07 // y el 2,02 // respectivamente, siendo mas frecuente en el sexo masculino y en el grupo etareo de 1-4 anos.

Endophytic vs exophytic unilateral retinoblastoma: is there any real difference?

A retrospective review of 297 cases of enucleated and histologically proven unilateral retinoblastoma with a minimum of 5-year follow-up was analyzed to see if there were any clinical or prognostic differences between endophytic and exophytic type retinoblastoma. Endophytic retinoblastoma (181 cases) was found more often than exophytic (116 cases). The following features were not associated with the clinical appearance of either endophytic or exophytic tumors: sex of patient, right vs left eye, propensity for bilateral development, initial sign or symptom, presence of rubeosis, preoperative metastasis, optic nerve invasion, orbital recurrence, survival of the patient, length of follow-up, or age at diagnosis. Three features were found that correlated with type: a disproportionately higher percentage of patients with endophytic retinoblastoma had a positive family history; a disproportionately high percentage of patients with exophytic retinoblastoma developed glaucoma; and choroidal invasion occurred significantly more often in patients who had exophytic retinoblastoma than in those who had endophytic retinoblastoma.