Análisis citogenético del melanoma de coroides / Cytogenetic analysis of choroidal melanoma

OBJETIVO: Investigar la presencia de las alteraciones citogenéticas conocidas del melanoma de coroides en una serie de pacientes diagnosticados y tratados en nuestra Unidad de Oncología Ocular. También exponemos una revisión de la literatura actual sobre este tema. MÉTODO: Durante dos años se han estudiado muestras procedentes de piezas de enucleación o de resección de melanoma coroideo de un total de 27 pacientes mediante análisis de microsatélites (MSA) para estudio de pérdida de heterocigosidad (LOH) del cromosoma 3 y mediante multiplex-ligation-prove amplification (MLPA) para los cromosomas 1, 3, 6 y 8. RESULTADOS: Entre los casos estudiados, 20 mostraron como mínimo una de las alteraciones citogenéticas que se buscaban, 11 LOH del cromosoma 3 (44%), 8 ganancias del cromosoma 6 p (30%), 8 ganancias en cromosoma 8 (30%) y 7 pérdidas totales o parciales del cromosoma 1 (26%). CONCLUSIONES: Este es el primer estudio citogenético del melanoma de úvea en nuestro país.La presencia y preponderancia de las distintas alteraciones citogenéticas se corresponden con las de las series publicadas en la literatura. El análisis citogenético nos permite conocer mejor el pronóstico vital individualizado. También puede resultar una herramienta valiosa para establecer el protocolo de seguimiento más adecuado y la necesidad de tratamientos adyuvantes en estos pacientes

PURPOSE: To investigate the presence of known cytogenetic alterations of choroidal melanoma in a series of patients diagnosed and treated in our Ocular Oncology Service. A review of the present literature on this topic is also presented. METHODS: Microsatellite analysis (MSA) studies on loss of heterozygosity (LOH) of chromosome 3, as well as multiplex ligation prove amplification (MLPA) on chromosomes 1, 3, 6 and 8, were performed on enucleation or local resection samples obtained from a total of 27 patients, over a 2 year period. RESULTS: Twenty patients showed at least one of the cytogenetic alterations looked for. A total of 11 cases were found that showed LOH of chromosome 3 (44%), 8 gains of chromosome 8 (30%), 8 gains of chromosome 6 p (30%), and 7 partial or total losses of chromosome 1 (26%). CONCLUSIONS: This is the first study on the cytogenetics of choroidal melanoma performed in our country. The results are similar to that published in the literature. Cytogenetic analysis provides more accurate knowledge on a vital individual prognosis. It also may become a valuable tool for establishing the most adequate follow-up regimes, and the need for adjuvant therapies

Preoperative study of the inner segment/outer segment junction of photoreceptors by spectral-domain optical coherence tomography as a prognostic factor in patients with epiretinal membranes.

OBJECTIVE: To demonstrate whether the preoperative integrity of the inner segment/outer segment (IS/OS) junction of photoreceptors studied by spectral-domain optical coherence tomography (SD-OCT) is a prognostic factor in epiretinal membrane surgery. METHODS: We retrospectively studied patients with an idiopathic epiretinal membrane who underwent a 23-gauge vitrectomy to remove this membrane. Best-corrected visual acuity (BCVA) and SD-OCT scans were examined before and 6 months after the surgery. We studied the retinal microstructure, especially the IS/OS junction of the photoreceptors, and evaluated the intergroup differences between patients with an intact layer and those with an irregular or disrupted layer. We applied both the Wilcoxon and Mann-Whitney tests for statistical analysis. RESULTS: In total, 51 eyes from 51 enrolled patients were examined in this study. The postoperative BCVA was significantly better for eyes that had an intact IS/OS junction than for eyes that had an irregular or disrupted IS/OS junction, as preoperatively observed with SD-OCT scans (P < 0.001). We also observed an important association between disrupted IS/OS junctions and the presence of cystic macular edema (P < 0.01). CONCLUSION: The presence of an intact IS/OS junction on the preoperative SD-OCT scan was an important predictor of better visual recovery after epiretinal membrane surgery.

Análisis descriptivo de los patrones de recidiva cutánea en los pacientes con melanoma / Descriptive Analysis of Cutaneous Recurrence Patterns in Patients with Melanoma

Introducción: Existen pocos estudios sobre recidiva cutánea en el melanoma. Nuestro objetivo fue analizar retrospectivamente las características y el significado pronóstico de los distintos patrones de recidiva cutánea del melanoma. Material y métodos: Los pacientes con melanoma diagnosticados entre 1988-2008 en el Hospital de Bellvitge de Barcelona, con más de dos años de seguimiento, fueron incluidos en el estudio. Se consideró recidiva local a la infiltración cutánea por melanoma en continuidad con la cicatriz de exéresis del tumor primario, metástasis o recidiva regional cuando las lesiones se mantenían en el territorio de drenaje linfático regional y metástasis cutánea a distancia cuando se localizaron fuera de este territorio. Se analizó la relación del patrón de recidiva cutánea con edad, sexo, localización del tumor primario, tipo clinicopatológico, profundidad máxima de invasión y ulceración. Resultados: Ochenta y cinco de 1.080 pacientes desarrollaron recidiva cutánea (7,87%). En 71 de 85 pacientes (83,53%) la recidiva cutánea fue la primera evidencia de recidiva (27 varones y 44 mujeres; edad media: 60,68 años). Treinta y dos pacientes presentaron recidiva local, 32 regional y 7 a distancia. Las curvas de supervivencia mostraron diferencias significativas en tiempo de supervivencia específica desde el diagnóstico del melanoma primario (p=0,044) y desde el diagnóstico de la recidiva cutánea (p<0,001). Conclusiones: Nuestros resultados sugieren que el patrón de recidiva cutánea tiene significado pronóstico y que está relacionado con la localización del tumor primario, puesto que la mayoría de recidivas locales y regionales se producen en las extremidades inferiores y en la cabeza (AU)

Background and objectives: Few studies have addressed cutaneous recurrence of melanoma. The aim of this retrospective study was to analyze the characteristics and prognostic significance of the different patterns of cutaneous recurrence. Material and methods: Patients diagnosed with melanoma between 1988 and 2008 at Hospital de Bellvitge, Barcelona, Spain and for whom data were available for at least 2 years of follow-up were included in the study. Local recurrence was defined as melanoma invasion of the skin adjacent to the scar left by excision of the primary tumor, regional metastasis or recurrence as metastasis restricted to the area drained by a regional lymph node station, and distant cutaneous metastasis as metastasis occurring outside this area. The relationship between cutaneous recurrence pattern and age, sex, primary tumor site, tumor subtype, Breslow depth, and ulceration was assessed. Results: Eighty-five out of 1,080 patients (7.87%) had cutaneous recurrence. In 71 of those patients (83.53%; 27 men and 44 women; mean age, 60.68 years), this was the first indication of melanoma recurrence. Thirty-two patients had local recurrence, 32 regional metastasis, and 7 distant metastasis. Significant differences were observed in survival time from diagnosis of the primary tumor (P=0.044) and from diagnosis of cutaneous recurrence (P<0.001) according to the type of recurrence. Conclusions: Our results suggest that the pattern of cutaneous recurrence is prognostically significant and related to the site of the primary tumor given that the majority of local and regional recurrences occurred in primary tumors located on the lower limbs and head (AU)

Neoplasias múltiples en pacientes afectos de melanoma de úvea / Multiple neoplasms in patients with uveal melanoma

Introducción: El bupropión se usa como deshabituante del hábito tabáquico. Puede provocar alteraciones visuales, pero hasta el momento no se había comunicado la aparición de anisocoria. Caso clínico: Mujer de 40 años con migrañas, en tratamiento con bupropión presentó midriasis monocular. Instilando cocaína al 5%, ambas pupilas dilataron de la misma manera. Con pilocarpina 0,025% ambas pupilas contrajeron de forma similar. La anisocoria cesó al suspender el tratamiento. Discusión: El bupropión es inhibidor selectivo de la recaptación de noradrenalina y dopamina. La vía pupilar simpática podría tener una cierta hipersensibilidad en pacientes migrañosos por denervación que podría estimularse con el tratamiento con estos fármacos, lo que explicaría la anisocoria. Por otra parte el estímulo midriático del bupropion podría haber desenmascarado una anisocoria fisiológica

Introduction: Bupropion is used to help people stop smoking. This drug can cause visual alterations but, up to now, its use was not associated with anisocoria. Case report: A 40 year-old woman with a personal history of migraines, presented with monocular mydriasis during treatment with bupropion. Both pupils dilated equally after a 5% cocaine test, and constricted equally after a 0.025% Pilocarpine test. The anisocoria disappeared after the treatment with bupropion was withdrawn. Discussion: Bupropion inhibits neural uptake of norepinephrine and dopamine. Patients with migraine could have a minor unilateral sympathetic pupillary deficit. This deficit could cause hypersensitivity in the oculosympathetic pathway that could be stimulated with bupropion treatment. This feature could explain the mydriasis in our patient. Another explanation could be that bupropion could unmask a physiological anisocoria

Distribución por edades del melanoma de úvea y su relación con la supervivencia / Age distribution of uveal melanoma and its relationship to survival

Propósito: Estudiar la distribución por edades del melanoma de úvea y relacionarlo con la supervivencia Método: Se ha realizado un estudio retrospectivo en pacientes diagnosticados de melanoma de úvea. Se han analizado entre otras las variables clínicas: edad, sexo, origen y tamaño tumoral, tiempo de seguimiento, estado sistémico actual, fecha y causa de muerte. Resultados: Se han estudiado 303 pacientes afectos de melanoma de úvea. La edad media de los pacientes fue de 60,09 años. La supervivencia en los pacientes = 50 años a los 2, 5 y 10 años es del 90,86%, 73,18% y 58,28% respectivamente, diferencia no estadísticamente significativa entre estos dos grupos de edad. Cuando consideramos el factor sexo en los pacientes >= 50 años encontramos una mayor supervivencia entre los hombres respecto a las mujeres (logrank; p=0,038). Conclusiones: El melanoma de úvea en nuestro medio sigue un patrón de distribución por edades muy similar al descrito en otras series de otros países, no siendo infrecuente el diagnóstico en pacientes jóvenes = 50 años

Purpose: To study the age distribution and survival in patients with uveal melanoma. Methods: A retrospective study was performed on 303 patients diagnosed with uveal melanoma. We analysed the clinical characteristics: age, gender, tumor size and origin, follow-up time, systemic state, survival time and cause of death. Results: The median age of the patients was 60.09 years. The 2-, 5-, and 10-year survival of patients less than 50 years of age at diagnosis was 91.41%, 81.83% and 61.45% respectively. The 2-, 5- and 10- year survival of patients equal to or older than 50 years was 90.86%, 73.18% and 58.28% respectively. No significant difference was found between these two age groups. When we considered a possible relationship between the sex factor and survival, in patients equal to or older than 50 years of age, we found a higher survival in men than in women (logrank test; p=0.038). Conclusions: Uveal melanoma in Spain has a similar age distribution to that of other countries, and it is not an infrequent diagnosis in patients under 40 years of age. Survival rates are also similar to that of other series. We have not found any significant difference between the age of our patients and the survival, although if we analysed the subgroups, we found that the men equal to or over 50 years of age had a better survival than the women of the same age