The functional role of circular RNAs in the pathogenesis of retinoblastoma: a new potential biomarker and therapeutic target?

Retinoblastoma (RB) is a common cancer in infants and children. It is a curable disease; however, a delayed diagnosis or treatment makes the treatment difficult. Genetic mutations have a central role in the pathogenesis of RB. Genetic materials such as RNAs (coding and non-coding RNAs) are also involved in the progression of the tumor. Circular RNA (circRNA) is the most recently identified RNA and is involved in regulating gene expression mainly through “microRNA sponges”. The dysregulation of circRNAs has been observed in several diseases and tumors. Also, various studies have shown that circRNAs expression is changed in RB tissues. Due to their role in the pathogenesis of the disease, circRNAs might be helpful as a diagnostic or prognostic biomarker in patients with RB. In addition, circRNAs could be a suitable therapeutic target to treat RB in a targeted therapy approach (AU)

Vasculopatía coroidea oclusiva tras quimioterapia intraarterial: hallazgos en la RMN / Choroidal occlusive vasculopathy after intraarterial chemotherapy: MRI findings

Objetivo: Evaluar los hallazgos en las imágenes de resonancia magnética nuclear (RMN) en pacientes con vasculopatía coroidea oclusiva (VCO) tras quimioterapia intraarterial (QIA) por retinoblastoma. Métodos: Se realizó un estudio retrospectivo de 37 ojos de 34 pacientes que recibieron QIA entre 2016 y 2021 como tratamiento de primera o segunda línea del retinoblastoma intraocular. De estos pacientes, 22 recibieron quimioterapia sistémica y el resto QIA como primera línea, con melfalán (3-4mg), carboplatino (40mg) y topotecan (20mg). Los pacientes fueron examinados cada mes para observar la regresión tumoral y posibles complicaciones de los tratamientos. A los pacientes que presentaron VCO se les realizaron estudios con RMN para evaluar el grosor coroideo y la longitud del globo ocular. Resultados: Se observó VCO en cinco de los 37 ojos (13,51%), todos ellos con una coroidopatía sectorial completa con afectación foveal (grado 2). En cuatro de los cinco pacientes el grosor coroideo se vio disminuido, mientras que en tres casos el tamaño del globo afectado era claramente inferior. El control tumoral fue posible en todos los casos. Conclusiones:En esta muestra, la VCO se asocia con adelgazamiento coroideo y diminución del tamaño ocular en la RMN. Puede ser necesaria una nueva clasificación para correlacionar mejor la severidad de la coroidopatía que afecta a la fóvea. Los resultados iniciales son favorables respecto al uso de la QIA; aunque es necesaria la realización de estudios a largo plazo y una documentación exhaustiva para valorar tanto el papel de la QIA, como los efectos derivados de ella. (AU)

Purpose: To evaluate magnetic resonance imaging (MRI) findings in patients suffering choroidal occlusive vasculopathy (COV) after intra-arterial chemotherapy (IAC) for retinoblastoma. Methods: A retrospective study of 37 eyes of 34 patients receiving IAQ between 2016 to 2021 as primary or secondary treatment for retinoblastoma was conducted. Twenty-two patients received systemic chemotherapy with carboplatin, vincristine and etoposide. The rest received IAC as primary treatment. The drugs administered were melphalan (3-4mg), carboplatin (40mg) plus topotecan (20mg). The patients were examined under general anaesthesia every month to observe tumor regression and possible complications of the treatment. For the patients with COV an MRI was obtained to analyse the choroidal thickness and axial ocular length. Results: A COV was observed in 5 of the 37 eyes receiving IAC (13,51%), all of them with a complete sectorial choroidopathy not sparing the fovea (grade 2). In 4 of the 5 patients the choroidal thickness was decreased and in three cases the size of the eye which presented COV was clearly smaller than the contralateral eye. Tumor control was archived in all 5 patients. Conclusion: In our cases COV was associated with reduction of thinning of choroid and eye length in the MRI. A new classification maybe needed to correlate better with the severity of the complication affecting the fovea. Although early results generally are favorable to the use of IAC, longer follow up and scrupulous documentation of side effects will be necessary to know the true role of IAC for retinoblastoma. (AU)

MiR-493-5p inhibits the malignant development of gliomas via suppressing E2F3-mediated dysfunctions of P53 and PI3K/AKT pathways

BackgroundGliomas is a major challenge of current medical system, and thousands of people are struggling in the pain of this disease worldwide. In the last decade, the functions of miRNAs have been revealed by many studies, and the intervention on miRNA dysfunctions has been thought as a promising way to counter cancer. MiR-493-5p has been identified as a tumor inhibitor to suppress the progressions of several tumors while its role in gliomas remains unknown. Hence, the study investigated the expression levels of miR-493-5p in glioma tissues and cell lines.MethodsCCK-8 assay, transwell assay and flow cytometry assay were used to observe the effects of miR-493-5p on tumor cells. The downstream targets of miR-493-5p were also searched and verified with online databases and dual-luciferase reporter assay. Moreover, the activities of P53 and PI3K/AKT pathways were also explored by western blot to illustrate the regulation mechanism of miR-493-5p on glioma development.ResultsThe results showed that miR-493-5p was significantly downregulated in pathological tissues and glioma cell lines, and the increased miR-493-5p effectively inhibited the malignant behavior and promoted the apoptosis of glioma cells.ConclusionsE2F3 was confirmed as a target of miR-493-5p, and the effects of miR-493-5p on the phenotype of glioma cells could be partly reversed by E2F3. Besides, it was also found that miR-493-5p could effectively suppress the expression of E2F3 and then improve the dysfunctions of the P53 and PI3K/AKT pathways.

The role for intra-arterial chemotherapy for refractory retinoblastoma: a systematic review

Background Intra-arterial chemotherapy is a new retinoblastoma treatment associated with high rates of globe salvage that has been widely adopted for primary treatment of retinoblastoma but is less frequently used as secondary treatment for refractory retinoblastoma. This systematic review aims to summarize the reported outcomes of intra-arterial chemotherapy for refractory retinoblastoma. Methods We conducted a systematic review of studies published on PubMed, Medline, and Embase from 2011 to 2021 reporting globe salvage rates following intra-arterial chemotherapy for secondary treatment of refractory retinoblastoma. Results Our search yielded 316 studies, and 24 met inclusion criteria. The 24 included studies were comprised of 1366 patients and 1757 eyes. Among these, 1184 (67%) eyes received secondary indication treatment, and globe salvage was achieved for 776 of these 1184 eyes (64%). Sixteen studies reported cannulation success rates from 71.8 to 100%. Pooled analysis of subjects revealed 21 patients (2.6%) with metastatic disease and 26 deaths (3%) during study follow-up periods (7–74 months). The most common ocular complications were vitreous hemorrhage (13.2%), loss of eyelashes (12.7%), and periocular edema (10.5%). The most common systemic complications were nausea/vomiting (20.5%), neutropenia (14.1%), fever (8.2%), and bronchospasm (6.2%). Conclusions Intra-arterial chemotherapy is associated with high rates of globe salvage and low rates of serious complications in patients with refractory retinoblastoma. Unfortunately, current literature is predominantly comprised of retrospective case studies, and further high-quality evidence is necessary to inform clinical practice (AU)

Quimioterapia intraarterial para el tratamiento del retinoblastoma en Chile: experiencia y resultados, período 2013-2020 / Intra-arterial chemotherapy for retinoblastoma treatment in Chile: experience and results 2013-2020

Objetivo Establecer la tasa de éxito de la quimioterapia intraarterial (QIA) en modalidad de rescate expresada en el porcentaje de ojos que lograron remisión tumoral y evitaron la enucleación. El segundo objetivo fue analizar la caracterización clínica, resultados del cateterismo, complicaciones locales y sistémicas asociadas. Métodos Estudio retrospectivo de serie de casos intervencional de 29 pacientes (35 ojos) con retinoblastoma intraocular persistente o recidivado. Resultados Se realizaron un total de 73 procedimientos de QIA con topotecán y melfalán en modalidad de rescate. La tasa de éxito de la QIA fue del 77% en un seguimiento promedio de 41,4 meses. Todos los casos con ojo único evitaron la enucleación de su ojo residual (10 casos). El cateterismo fue exitoso en un 98,6%. Los tipos de cateterización logrados fueron los siguientes: supraselectiva por arteria oftálmica (71,2%), supraselectiva por arteria oftálmica asistida con balón de oclusión en carótida externa (12,3%), selectiva por rama de carótida externa con flujo retrógrado (16,4%). Se reportaron efectos adversos locales en el 14% de los pacientes: una (2,8%) ptosis palpebral transitoria, una (2,8%) parálisis del sexto par transitoria, 2 (5,7%) celulitis aséptica y una (2,8%) pigmentación de región periorbitaria. La frecuencia de neutropenia por quimiosupresión medular fue del 4,1% (3 casos). No hubo casos de anemia ni trombocitopenia severas. No hubo eventos isquémicos cerebrales ni mortalidad asociada al procedimiento. Conclusión La QIA con melfalán y topotecán es una alternativa segura y efectiva para el tratamiento del retinoblastoma persistente o recidivado, permitiendo reducir las tasas de enucleación (AU)

Objective To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications. Methods Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma. Results A total of 73 salvage IAC procedures with topotecan and melphalan were carried out. Success rate was 77% at a mean follow-up of 41.4 months. All patients with only one remaining eye avoided enucleation (10 cases). Catheterization was successful in 98.6% of cases. The types of catheterizations were as follows: 71.2% supraselective ophthalmic artery, 12.3% occlusion pump assisted supraselective ophthalmic artery, 16.4% selective external carotid with retrograde flow. 14% of patients suffered local adverse effects: 1 (2.8%) transitory ptosis, 1 (2.8%) transitory oculomotor nerve palsy, 2 (5.7%) aseptic cellulitis and 1 (2.8%) periorbitary pigmentation. 4.1% (3 cases) suffered neutropenia due to medullar chemosuppression. There were no cases of severe anemia or thrombocytopenia. There were no cerebral ischemic events or mortality associated to the procedure. Conclusion IAC with melphalan and topotecan is a safe and effective treatment option for persistent or recurrent retinoblastoma, able to reduce enucleation rates (AU)

Consenso sobre guías de tratamiento de los glioblastomas elaborado por el Grupo de Trabajo de Neurooncología (GTNO) de la SENEC / Glioblastoma treatment guidelines: Consensus by the Spanish Society of Neurosurgery Tumor Section

INTRODUCCIÓN: El tratamiento de los glioblastomas (GMB) comienza en la mayor parte de los pacientes con una cirugía, ya sea para la extirpación tumoral, ya sea para la obtención de tejido con el que determinar un diagnóstico histológico. Con el fin de obtener el máximo beneficio de estos tratamientos cada paciente debe ser valorado de forma individualizada por un equipo multidisciplinar, constituido por aquellas especialidades involucradas tanto en el diagnóstico como en el tratamiento. MATERIAL Y MÉTODOS: El objetivo de este trabajo es elaborar unas recomendaciones de tratamiento para los pacientes con GBM, para lo cual un experto en cada campo ha descrito lo más relevante de dicha área basado tanto en su experiencia como en la literatura. RESULTADOS: Se han desarrollado los distintos apartados sobre el tratamiento de los GBM y al final de cada apartado se concluye la recomendación del GTNO. CONCLUSIONES: A pesar de que los GBM son tumores agresivos y el pronóstico es malo, los pacientes se pueden beneficiar de tratamientos que mejoren no solo la supervivencia global sino también la calidad de vida. El neurocirujano debe conocer las distintas opciones de tratamientos, sus indicaciones y riesgos para poder participar activamente en la toma de decisiones y ofrecer un tratamiento neuroquirúrgico oportuno a cada situación

INTRODUCTION: Glioblastoma (GBM) treatment starts in most patients with surgery, either resection surgery or biopsy, to reach a histology diagnose. Multidisciplinar team, including specialists in brain tumors diagnose and treatment, must make an individualize assessment to get the maximum benefit of the available treatments. MATERIAL AND METHODS: Experts in each GBM treatment field have briefly described it based in their experience and the reviewed of the literature. RESULTS: Each area has been summarized and the consensus of the brain tumor group has been included at the end. CONCLUSIONS: GBM are aggressive tumors with a dismal prognosis, however accurate treatments can improve overall survival and quality of life. Neurosurgeons must know treatment options, indications and risks to participate actively in the decision making and to offer the best surgical treatment in every case

Cáncer en los primeros 18 meses de vida / Cancer in the first 18 months of life

INTRODUCCIÓN: La enfermedad oncohematológica continúa siendo la primera causa de mortalidad no traumática en la infancia y una importante causa de morbilidad. El paciente menor de 18 meses presenta particularidades clínicas, diagnósticas y terapéuticas que es interesante conocer por todo pediatra, con el fin de lograr una mayor supervivencia y una menor comorbilidad a lo largo de su vida. MATERIAL Y MÉTODOS: Estudio descriptivo retrospectivo de variables clínicas, diagnósticas y terapéuticas en pacientes menores de 18 meses diagnosticados de enfermedad oncohematológica que reciben quimioterapia en una unidad de oncología pediátrica entre enero 2007 y agosto 2019. RESULTADOS: Setenta y dos pacientes fueron diagnosticados de 76 neoplasias que precisaron quimioterapia. La neoplasia de mayor incidencia fue la leucemia (21 pacientes), seguida del neuroblastoma (15 pacientes) y los tumores del sistema nervioso central (12 pacientes). La presentación con «síntomas amenazantes para la vida» tuvo lugar en el 20,8% de los afectados, especialmente en tumores de estirpe neural (13/15). El 18% de pacientes no presentaron síntomas al inicio. El 51% de los diagnósticos totales tuvieron lugar en «estadios avanzados». Concretamente en el caso de los tumores sólidos, el 23,6% de los inicios presentaron metástasis. Se aislaron importantes porcentajes de alteraciones genéticas implicadas en la etiopatogenia de las diferentes neoplasias. CONCLUSIONES: El cáncer en la primera etapa de la vida supone un reto diagnóstico y terapéutico por su diversidad fenotípica, su carga genética y sus dificultades terapéuticas. El conocimiento de sus particularidades es fundamental para un abordaje precoz y eficaz

INTRODUCTION: Oncological-haematological disease continues to be the first cause of non-traumatic mortality in childhood, as well as a significant cause of morbidity. The patient less than 18-months-old has special clinical, diagnostic, and therapeutic features that all paediatricians are interested in determining, with the aim of achieving greater survival and a lower morbidity throughout the lives of their patients. MATERIAL AND METHODS: A retrospective, descriptive study was carried out using the clinical, diagnostic, and therapeutic variables in patients less than 18-months-old diagnosed with an oncological-haematological that received chemotherapy in a Paediatric Oncology Unit between January 2007 and August 2019. RESULTS: A total of 72 patients were diagnosed with 76 cancers that required chemotherapy. The most common cancer was leukaemia (21 patients), followed by neuroblastoma (15 patients), and tumours of the central nervous system (12 patients). The presentation of "life-threatening symptoms" was seen in 20.8% of cases, particularly in tumours of neural origin (13/15). Although 18% of patients showed no symptoms on diagnosis, just over half (51%) of the diagnoses took place in the "advanced stages". Particularly in the case of solid tumours in which 23.6% were diagnosed with metastases. A significant percentage of genetic alterations implicated in the aetiopathogenesis of the different cancers were found. CONCLUSIONS: Cancer in the first stages of life is a diagnostic and therapeutic challenge due to its phenotypical diversity, its genetic load, and its therapeutic difficulties. Knowledge of its particular features is essential for its early and effective approach

Uso de sustituto semisintético de duramadre como injerto tras extrusión de prótesis en una cavidad anoftálmica / Use of semisynthetic dura mater substitute as a patch graft for prosthesis extrusion in anophthalmic socket

Presentamos un caso de una paciente de 3 años de edad con diagnóstico de retinoblastoma en el ojo izquierdo. El curso de la enfermedad obligó a la enucleación de dicho ojo e implantación de una prótesis. Dos años tras la cirugía, se produjo una extrusión parcial de la prótesis en la cavidad anoftálmica y se decidió emplear un sustituto semisintético de duramadre para cubrir el defecto. El uso de un sustituto semisintético de duramadre en este escenario específico no ha sido comunicado previamente

We present a case report of a three-year old patient diagnosed with retinoblastoma in her left eye. The course of the disease made enucleation of the latter eye and a prosthesis implant necessary. Two years after surgery, partial prosthesis extrusion occurred and a semisynthetic dura mater substitute was used as a patch graft to cover the defect. To our knowledge, semisynthetic dura mater substitutes' use in this scenario has not been previously reported

Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral / Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma

Paciente de 5 años de edad con diagnóstico de retinoblastoma hereditario bilateral tratada con radioterapia en el ojo izquierdo (OS) y enucleación del ojo derecho (OD). Después de 3 años sin evidencia de progresión presenta una nueva masa tumoral en la órbita derecha, con compromiso del techo, cuyo diagnóstico anatomopatológico tras su exéresis mediante abordaje neuroquirúrgico resultó ser de tumor óseo de células gigantes. Los tumores óseos primarios de la órbita como el tumor de células gigantes son una entidad poco frecuente. Los estudios radiológicos y anatomopatológicos resultan esenciales para establecer el diagnóstico diferencial de las lesiones que asientan en la órbita

A case is presented of a 5 year-old patient with bilateral hereditary retinoblastoma treated with radiotherapy in the right eye and enucleation of the left eye. After three years without evidence of progression, the patient presented with a right orbital mass that compromised the frontal bone. After surgical excision, the histology analysis was consistent with a diagnosis of giant cell tumour. Primary orbital bone neoplasms, such as giant cell tumours, are extremely rare. Both radiological and histopathology studies are essential to establish the differential diagnosis of orbital mass lesions

Retinoblastoma: la importancia de su diagnóstico precoz / Retinoblastoma: The importance of early diagnosis

INTRODUCCIÓN: El retinoblastoma es el tumor intraocular maligno más frecuente en la infancia y tanto su curación como las secuelas derivadas del mismo dependen fundamentalmente de un diagnóstico precoz. En la actualidad, no existe consenso en su manejo diagnóstico y terapéutico. PACIENTES Y MÉTODOS: Estudio descriptivo, retrospectivo, no aleatorizado, de serie de casos (39 pacientes-58 ojos), tratados durante el período 2006-2013 en nuestro servicio, nombrado centro de Referencia Regional de Tumores por la Agencia de Calidad del SNS. RESULTADOS: El signo más frecuente de comienzo es la leucocoria (71,8%), seguido de estrabismo (17,9%). Todos los casos de tumoración bilateral presentaban mutación germinal del gen RB1 y un 20% tenían antecedentes familiares. El 55% de los pacientes presentaron estadio E, y el 90% precisó tratamiento quimioterápico. Un 57% de los que presentaban estadios leves, conservaron su ojo respecto al 43% que lo conservó en estadios avanzados. CONCLUSIONES: Este análisis consta de 58 ojos, sin que existan estudios previos en nuestra comunidad y pocas series tan numerosas en todo el país. Basado en tratamiento no estandarizados, eligiendo el más adecuado según las características del tumor. El manejo multidisciplinar, formado por oftalmología, oncología pediátrica, oncología radioterápica y radiofísica, es fundamental para la elección de tratamiento más correcta. La quimiorreducción junto a tratamientos de consolidación ofrece resultados esperanzadores en el control de los mismos, sobre todo en los de menor severidad. La enucleación continúa siendo de elección en las estadificaciones más avanzadas con afectación vítrea, poniendo de manifesto la importancia de su diagnóstico precoz

INTRODUCTION: Retinoblastoma is the most frequent malignant intraocular tumour in childhood, and both its cure and the sequelae arising from it, mainly depend on an early diagnosis. There is currently no consensus on its diagnostic and therapeutic management. PATIENTS AND METHODS: A descriptive, retrospective, and non-randomised study was conducted on a series of cases (39 patients -58 eyes), treated during the period 2006-2013, in the Regional Reference Centre for Tumours of the National Health Service Quality Agency. RESULTS: The most frequent presentation sign is leukocoria (71.8%), followed by strabismus (17.9%). All cases of bilateral tumour had a germline mutation of the RB1 gene, and 20% had a family history. Stage E was observed in 55% of the patients, and 90% required chemotherapy treatment. The eye was maintained in 57% of those who had mild stages, compared to 43% who maintained it in advanced stages. CONCLUSIONS: This analysis included 58 eyes. There are no previous studies in our community and there are few series so numerous throughout the country. Based on non-standardised treatment, the most appropriate is chosen according to the characteristics of the tumour. The multidisciplinary management, formed by ophthalmology, paediatric oncology, radiotherapy, and radiophysical oncology, is fundamental for the selection of the most appropriate treatment. Chemo-reduction, along with consolidation treatments, offers encouraging results in the control of these tumours, especially in those of less severity. Enucleation continues to be the method of choice in the most advanced staging with vitreous involvement, with the importance of early diagnosis being highlighted

Retinoblastoma: hacia un diagnóstico más precoz / Retinoblastoma: towards an earlier diagnosis

OBJETIVOS: El número de enucleaciones y secuelas visuales por retinoblastoma es elevado. El objetivo del estudio fue evaluar diferentes aspectos diagnósticos y plantear estrategias que ayuden a mejorar el manejo clínico del retinoblastoma. Método: Estudio retrospectivo de 38 pacientes con retinoblastoma estudiados genéticamente (29 unilaterales, 9 bilaterales). Se evaluaron la edad de inicio, los signos clínicos y el tiempo de evolución, el número de enucleaciones, el momento de realización y la supervivencia a 5 años. Resultados: La leucocoria fue el signo clínico fundamental (presente en el 90% de los casos). El retraso diagnóstico medio fue de 3,2 meses. Entre los casos unilaterales se enuclearon el 76% de los ojos y en las formas bilaterales el 55%. Solo se encontró un fallecimiento entre los 25 pacientes seguidos durante al menos 5 años. Conclusiones: Las estrategias de diagnóstico y tratamiento del retinoblastoma necesitan ser actualizadas. Para ello, una buena coordinación entre pediatras y oftalmólogos es esencial. El manejo en centros de referencia, que dispongan de la tecnología y experiencia necesarias, debería contribuir a aumentar la tasa de preservación de órganos

OBJETIVOS: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition. Method: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years. Results: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years. Conclusions: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation

Retinoblastoma y realce del nervio óptico en la resonancia magnética cerebral: ¿es siempre una metástasis? / Retinoblastoma and optic nerve enhancement in a brain magnetic resonance scan: is it always a metastasis?

CASO CLÍNICO: Niña con retinoblastoma unilateral que precisó tratamiento con quimioterapia intraarterial. En la resonancia magnética nuclear cerebral, realizada un mes después del tratamiento con quimioterapia intraarterial, se evidenció realce del nervio óptico (NO) poslaminar lo que hizo sospechar una infiltración tumoral del NO, por lo que se solicitaron exámenes adicionales donde se diagnosticó una probable neuropatía óptica. Discusión: Generalmente el realce del NO en la resonancia magnética nuclear cerebral en retinoblastoma corresponde a una invasión tumoral del NO; sin embargo, en la actualidad, se deben considerar otras alternativas diagnósticas asociadas al uso de nuevos tratamientos, como la quimioterapia intraarterial

CASE REPORT: The case is presented on a girl with a unilateral retinoblastoma that required treatment with intra-arterial chemotherapy. In the nuclear magnetic resonance imaging of the brain performed 1 month after intra-arterial chemotherapy treatment, post-laminar optic nerve (ON) enhancement was observed, leading to the suspicion of an ON tumour infiltration. Additional examinations were requested by which a probable optic neuropathy was diagnosed. DISCUSSION: The ON enhancement in magnetic resonance imaging of the brain in retinoblastoma generally corresponds to tumour invasion of the ON. However, other diagnostic alternatives associated with the use of new treatments, such as intra-arterial chemotherapy, should be considered

Injerto dermograso para cavidad anoftálmica en niños enucleados por retinoblastoma / Dermal-fat graft for anophthalmic socket in children enucleated for retinoblastoma

El retinoblastoma (RB) es el tumor intraocular maligno más frecuente en niños. El tratamiento definitivo es la enucleación. El manejo de la anoftalmia consiste en colocar una esfera plástica dentro del cono muscular. Sin embargo, estos implantes suelen extruirse y tienen alto coste. Los injertos dermograsos minimizan el riesgo de hipoplasia hemifacial. Se ha observado que estos injertos crecen junto con el macizo facial y ayudan a expandir los huesos orbitarios limitando las consecuencias físicas y psicológicas. OBJETIVO: Describir la presencia de hipoplasia facial usando imágenes de resonancia después la colocación de injerto dermograso en pacientes enucleados por RB. MÉTODO: Se incluyeron pacientes de RB enucleados a quienes se les colocó injerto dermograso y se les hizo resonancia magnética en el Instituto Nacional de Pediatría durante el periodo junio de 2010 a diciembre de 2012. Se midió el crecimiento facial y la cosmeticidad. RESULTADOS: Se incluyeron 12 pacientes de 6 a 41 meses de edad al momento de la enucleación y colocación de injerto dermograso por diagnóstico de RB. A los 24 meses ninguno desarrolló hipoplasia hemifacial. Todos presentaron adecuada cosmeticidad con el uso de la prótesis. No se presentó ninguna complicación. CONCLUSIONES: El injerto dermograso es una opción adecuada para la cavidad anoftálmica en pacientes a los que se les realiza enucleación por RB

Retinoblastoma is the most frequent intraocular tumour in childhood. The definitive treatment is enucleation. The management of the anophthalmic socket consists in the use of a plastic implant. The problem is that they are expensive and they usually extrude. The use of dermal-fat grafts minimises the hemi-facial hypoplasia. They usually grow with the face, and help to expand the orbital bones, thus avoiding the psychological and physical consequences. OBJECTIVE: To determine if there is hemi-facial hypoplasia, using MRI images after the use of a dermal-fat implant in patients enucleated for RB. METHOD: The study included patients enucleated for RB in which a dermal-fat implant was used and MRI images were taken in the period between June 2010 and December 2012. Facial growth and cosmesis was measured. RESULTS: The study included 12 patients, aged between 6 to 41 months. After 24 months of follow up, none of them developed hemifacial hypoplasia. All had a good cosmesis with the prosthesis. There were no complications after the surgery. CONCLUSIONS: The use of dermal-fat implant is a good option for the anophthalmic socket in patients with RB after enucleation

Successful desensitization to etoposide in a preschool pediatric patient

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Facoemulsificación en pacientes con retinoblastoma y catarata por radioterapia: resultados y complicaciones / Outcomes and complications after phacoemulsification in retinoblastoma patients with cataract after radiation treatment

OBJETIVO: Describir los resultados visuales y las complicaciones asociadas al tratamiento quirúrgico de catarata secundaria a radioterapia externa en pacientes con retinoblastoma (Rb) bilateral. MÉTODOS: Se realizó un estudio descriptivo de aquellos pacientes que acudieron al Hospital Infantil de México Federico Gómez de enero de 1997 a agosto de 2015 con diagnóstico de Rb y que desarrollaron catarata secundaria al tratamiento con radioterapia externa. Se realizó un análisis estadístico utilizando el programa Stata 10. RESULTADOS: Se incluyeron 15 pacientes. La edad promedio de facoemulsificación fue 7,5 años. La agudeza visual preoperatoria promedio fue 1,0LogMAR (rango 0,4 a 1,6), mientras que la capacidad visual mejor corregida postoperatoria fue en promedio 0,7LogMAR (rango 0,1 a 1,6). Doce pacientes presentaron mejoría de la agudeza visual de al menos 2 líneas (p < 0,05). Una paciente presentó hemorragia vítrea densa y glaucoma secundario, y 2 pacientes desarrollaron maculopatía exudativa por radioterapia. El seguimiento promedio fue de 46 meses, durante el cual no se presentaron reactivaciones tumorales. CONCLUSIONES: La facoemulsificación produce mejoría visual estadísticamente significativa. Estos pacientes tienen un riesgo incrementado de complicaciones oculares a medio y largo plazo, originadas por el tratamiento del Rb intraocular con radioterapia. Es importante un estrecho seguimiento debido a la posibilidad de recurrencia del Rb

PURPOSE: To describe the visual outcome and complications associated with phacoemulsification in patients with bilateral retinoblastoma (Rb), with lens o pacification secondary to external beam radiotherapy. METHODS: A descriptive study was performed on patients with Rb, treated in Federico Gomez Children's Hospital, Mexico, from January 1997 to August 2015, with external beam radiotherapy eye salvaging. Statistical analysis was performed using Stata 10. RESULTS: A total of 15 patients were included. The mean age at phacoemulsification was 7.5 years. Mean preoperative visual acuity was 1.0LogMAR (range 0.4-1.6), and the mean postoperative visual acuity was 0.7LogMAR (range 0.1-1.6). Twelve patients had visual improvement (P<.05). The visual acuity decreased in one patient with vitreous haemorrhage and secondary glaucoma, and 2 patients with exudative maculopathy secondary to radiation. Mean follow up was 46 months and not a single patient showed tumour re-activation. CONCLUSIONS: Cataract surgery produces a statistically significant improvement in visual acuity. These patients have increased risk for eye complications in the mid- and long-term. It is important to conduct a close follow up due to reactivation of tumour

Long-term visual outcomes in intraocular retinoblastoma with eye preservation

Purpose: Inconsistent data exist on long-term visual outcomes in survivors of retinoblastoma. No studies have been reported on role of ocular coherence tomography (OCT) in predicting visual acuity. We assessed visual acuity in patients with retinoblastoma treated at our center in whom affected eyes were preserved. Methods: Patients who had completed a 2-year follow-up and were more than 5 years of age at assessment were included. Clinical data were obtained from database and factors predicting visual acuity were analyzed. OCT was performed in these patients to assess central macular thickness (CMT). Results: Visual outcomes were assessed in 45 eyes of 43 patients, of which 38 (88 %) had bilateral retinoblastoma. The median age at diagnosis was 12 months. Sixty percent 27/45) had International classification of retinoblastoma group C or D disease with 40 % eyes showing macular lesions. The far visual acuity was better than 6/12 in 53 % (24/45), 6/12 to 6/60 in 40 % (18/45) and 6/60 in 7 % (6/ 60). Macular location and International classification of retinoblastoma predicted poor vision (p = 0.06 and 0.07, respectively). CMT was less than 200 lm in 3 of 36 eyes (8 %) and 1 eye showed epiretinal membrane. Radiotherapy was associated with foveal thinning (p = 0.003). Two of 3 eyes with foveal thinning had a vision of 6/60. Conclusions: Good visual outcomes were observed in half of retinoblastoma patients treated with eye preservation. Macular location and International classification of retinoblastoma group C and D predicted poor visual acuity, while previous radiotherapy predicted foveal thinning, which was associated with poor visual acuity (AU)

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Dermatosis ampollosa hemorrágica a distancia por enoxaparina: un efecto secundario infrecuente en paciente oncológica anticoagulada / Bullous haemorrhagic dermatosis at distant sites due to enoxaparin: an uncommon secondary effect in an anticoagulated oncology patient

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Distracción ósea y cirugía ortognática en paciente previamente radiado / Bone distraction and orthognathic surgery on previously irradiated patients

Introducción. Presentamos a un paciente que recibió tratamiento radioterápico en la infancia por un retinoblastoma. Como principal secuela presenta una severa hipoplasia ósea hemifacial, alteración de la dentición y atrofia muscular. Se realiza cirugía correctora facial mediante distracción ósea, cirugía ortognática y lipoescultura facial con un resultado estético y funcional excelente y estable hasta el momento actual. Caso clínico. Varón de 15 años con hipoplasia témporo-parieto-frontal, orbitaria izquierda y del tercio medio facial con un plano oclusal inclinado, resalte de más de 25 mm y múltiples piezas dentales con microdoncia y rizólisis. A los 19 años, inicia ortodoncia prequirúrgica y la colocación de distractores tipo Zurich en el maxilar superior. Se consigue un avance maxilar de 25 mm. A los 21 años se realiza cirugía ortognática bimaxilar y lipoescultura facial. Resultados. Paciente con mejoría de la simetría facial, oclusión en clase i con plano oclusal alineado. Resultados estables hasta el momento actual, con 23 años. Continúa con ortodoncia posquirúrgica y rehabilitación dental. Discusión. Se obtuvo una buena consolidación, con una calidad ósea excelente desde el punto de vista clínico y radiológico, sin presentar complicaciones. Otro beneficio de la distracción es el efecto expansor de los tejidos blandos. La distracción ósea y la cirugía ortognática bimaxilar son métodos prometedores en la reconstrucción del territorio maxilofacial en pacientes radiados con una deformidad dentofacial como secuela oncológica (AU)

Introduction. We report the case of a patient who received radiotherapy in childhood for retinoblastoma. The main sequelae of this was, severe bone hemifacial hypoplasia, abnormal dentition, and muscle atrophy. Corrective facial surgery was performed through bone distraction, orthognathic surgery, and facial liposuction, with excellent and stable aesthetic and functional results to date. Case. report A 15 year-old patient with left temporo-parieto-frontal and orbital hypoplasia and midface hypoplasia with an inclined occlusal plane, overjet more than 25 mm and multiple teeth with microdontia and rhizolysis. At 19 years old, presurgical orthodontics and placement of Zurich type maxillar distractors were started. An advancing of 25 mm was achieved. At 21years old, bimaxillary orthognathic surgery and facial liposuction was performed. Results. Patient improvement in facial symmetry, occlusion type i of Angle classification with inclined occlusal plane. Stable results to date on a 23 year-old patient. Continues with post-surgical orthodontic and dental rehabilitation. Discussion. Good bone consolidation was obtained, with excellent bone quality from a clinical and radiological point of view, with no complications. Another benefit is the distraction expanding effect of the soft tissue. Osteogenesis distraction and bimaxillary orthognathic surgery are promising methods in maxillofacial reconstruction on irradiated patients with dentofacial deformity as oncology sequelae (AU)

Diagnóstico molecular en pacientes con retinoblastoma: reporte de una serie de casos / Molecular diagnosis in patients with retinoblastoma: Report of a series of cases

OBJETIVOS: Reportar los beneficios del diagnóstico genético en una serie de pacientes con retinoblastoma. MÉTODOS: Estudio longitudinal observacional. Se incluyó a pacientes con retinoblastoma y sus familias. Se registraron datos demográficos y clínicos. Se obtuvieron muestras de sangre y del tumor, realizándose análisis mediante next generation sequencing. Con la sospecha de síndrome de deleción 13q, se realizó análisis citogenético con cariotipo molecular (Cytoscan® HD, Affymetrix, Santa Clara, CA, EE. UU.), utilizando un chip de alta densidad con 1,9 millones de sondas únicas no polimórficas y 750.000 sondas de SNP. RESULTADOS: Se analizan 7 casos. Cuatro eran hombres. La mediana de edad del diagnóstico fue de 21 meses (rango 5-36). Tres casos presentaron retinoblastoma bilateral y 4, unilateral. Ninguno tenía antecedentes familiares. En todos se estudió la sangre y en los 2 pacientes unilaterales enucleados se estudió el tejido tumoral. Se encontraron 6 mutaciones, todas fueron de novo.Solo una era nueva (c.164delC; caso 1). Un caso de tumor unilateral reveló un mosaicismo en sangre, por lo que su enfermedad es heredable, tiene riesgo de desarrollar retinoblastoma en el ojo contralateral sano y riesgo de presentar otros tumores primarios. Conclusión El diagnóstico molecular de RB1 en pacientes con retinoblastoma influye sobre la toma de decisiones, los costos, el tratamiento y el pronóstico de los pacientes y sus familias

OBJECTIVES: To report the benefits of genetic diagnosis in patients with retinoblastoma. METHOD: Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumour samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes. RESULTS: Of the 7 cases were analysed 4 were male. The mean age at diagnosis was 21 months (range 5-36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analysed, and a study was performed on the tissue from 2 unilateral enucleated tumours, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumour revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumours. CONCLUSION: Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families

Short stature in retinoblastoma survivors: a cross-sectional study of 138 patients

Purpose: Short stature has been reported in pediatric cancer survivors. Data on retinoblastoma survivors are limited. We conducted a cross-sectional study to assess the height in retinoblastoma survivors. Method: The recorded height was compared with median height for age and sex as per the Indian Academy of Pediatrics. Z-score less than -2 was considered short statured. Result: Thirty percent of the survivors were short statured. The mean height was shorter than the mean 50th percentile height (119.7 ± 14.8 vs 128.7 ± 15 cm, p < 0.001). Previous chemotherapy showed a trend toward association (p = 0.09). Conclusion: Short stature affects a significant number of retinoblastoma survivors (AU)

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