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Introduction and objectives: In 2012, the Adolescents with Cancer Working Group published the results of a survey on care delivery for the adolescent population in Spain as a starting point for future intervention. The aim of this nationwide survey was to outline the current situation and assess whether the implemented strategies have resulted in changes in care delivery. Material and methods: Survey consisting of the same items analysed and published in 2012. The questionnaire was structured into sections devoted to epidemiology, psychosocial care, infrastructure, treatment and follow-up of adolescents with cancer. It was submitted to all hospitals in Spain with a paediatric haematology and oncology unit. We conducted a descriptive analysis of the results. Results: The percentage of patients aged up to 18 years managed in paediatric units has increased from 35.9% to 77.5% in the past decade. The proportion of malignant blood tumours treated in paediatric units increased from 31% to 52%, and the proportion of solid tumours from 49% to 85%. In 2012, 30 units (out of 39) reported that new cases in adolescents amounted to up to 10% of the total. At present, only 14 (out of 40) continue to report this percentage. A decade ago, there were no specific adolescent cancer units in Spain. Now, 7 centres (out of 40) have specific multidisciplinary units. There has been little change in psychological support services for adolescents. The follow-up of survivors is carried out by paediatric specialists in 82.5% of the hospitals. Conclusions: The efforts made to centralise the care of adolescents with cancer in specific multidisciplinary adolescent units or, failing that, paediatric units, is reflected in the changes in care delivery in Spain in the past decade. Much remains to be done in key components of the management of adolescents with cancer. Resumen: Introduccion y objetivo: En el año 2012, el grupo de trabajo de adolescentes con cáncer publicó los resultados de una encuesta sobre la asistencia a adolescentes en España, como punto de partida para futuras actuaciones. Evaluar si las líneas de trabajo han supuesto cambios asistenciales en la última década. Material y métodos: Encuesta, que consta de las mismas preguntas analizadas y publicadas en el año 2012. La encuesta se divide en: epidemiología, atención psicosocial, infraestructuras, tratamiento y seguimiento de los adolescentes con cáncer.Se envío a todos los hospitales con Unidades de hematología y Oncología Pediátrica.Análisis estadístico descriptivo de los resultados. Resultados: El porcentaje de pacientes hasta 18 años tratados en unidades pediátricas ha aumentado del 35.9% al 77.5%. Las hemopatías malignas tratadas en unidades pediátricas se incrementan del 31% al 52%. Los tumores sólidos del 49% al 85%. En 2012, 30 (39) unidades, referían que los casos nuevos de adolescentes representaban un 10%. Actualmente 14 (40), mantienen este porcentaje. Hace una década no existían unidades específicas para adolescentes con cáncer en España. Actualmente, 7 (40) centros disponen de unidades. La atención psicológica para adolescentes apenas ha variado. El seguimiento de supervivientes se realiza por especialistas pediátricos en el 82.5% de los centros. Conclusiones: El trabajo para centralizar los cuidados de adolescentes con cáncer en unidades específicas multidisciplinarias o en su defecto pediátricas, se ve reflejado en los cambios en la atención sanitaria en nuestro país en la última década. Aún queda un largo recorrido en pilares fundamentales en el abordaje de esta población.

Resumen: Introducción y objetivo: En el año 2012 el Grupo de trabajo de adolescentes con cáncer publicó los resultados de una encuesta sobre la asistencia a adolescentes en España como punto de partida para futuras actuaciones. Nuestro objetivo fue evaluar si las líneas de trabajo han supuesto cambios asistenciales en la última década. Material y métodos: Encuesta que consta de las mismas preguntas analizadas y publicadas en el año 2012. La encuesta se divide en: epidemiología, atención psicosocial, infraestructuras, tratamiento y seguimiento de los adolescentes con cáncer.Se envió a todos los hospitales con unidades de hematología y oncología pediátrica.Se realizó un análisis estadístico descriptivo de los resultados. Resultados: El porcentaje de pacientes hasta los 18 años tratados en unidades pediátricas ha aumentado del 35,9% al 77,5%. Las hemopatías malignas tratadas en unidades pediátricas se incrementan del 31% al 52% y los tumores sólidos del 49% al 85%. En 2012 30 (39) unidades referían que los casos nuevos de adolescentes representaban un 10%. Actualmente 14 (40) mantienen este porcentaje. Hace una década no existían unidades específicas para adolescentes con cáncer en España. Actualmente, 7 (40) centros disponen de unidades. La atención psicológica para adolescentes apenas ha variado. El seguimiento de supervivientes se realiza por especialistas pediátricos en el 82,5% de los centros. Conclusiones: El trabajo para centralizar los cuidados de adolescentes con cáncer en unidades específicas multidisciplinarias, o en su defecto pediátricas, se ve reflejado en los cambios en la atención sanitaria en nuestro país en la última década. Aún queda un largo recorrido en pilares fundamentales en el abordaje de esta población. Abstract: Introduction and objective: In 2012, the Adolescents with Cancer working group published the results of a survey on care delivery for the adolescent population in Spain as a starting point for future intervention. The aim of this nationwide survey was to outline the current situation and assess whether the implemented strategies have resulted in changes in care delivery. Material and methods: Survey consisting of the same items analysed and published in 2012. The questionnaire was structured into sections devoted to epidemiology, psychosocial care, infrastructure, treatment and follow-up of adolescents with cancer. It was submitted to all hospitals in Spain with a paediatric haematology and oncology unit. We conducted a descriptive analysis of the results. Results: The percentage of patients aged up to 18 years managed in paediatric units has increased from 35.9% to 77.5% in the past decade. The proportion of malignant blood tumours treated in paediatric units increased from 31% to 52%, and the proportion of solid tumours from 49% to 85%. In 2012, 30 units (out of 39) reported that new cases in adolescents amounted to up to 10% of the total. At present, only 14 (out of 40) continue to report this percentage. A decade ago, there were no specific adolescent cancer units in Spain. Now, 7 centres (out of 40) have specific multidisciplinary units. There has been little change in psychological support services for adolescents. The follow-up of survivors is carried out by paediatric specialists in 82.5% of the hospitals. Conclusions: The efforts made to centralise the care of adolescents with cancer in specific multidisciplinary adolescent units or, failing that, paediatric units, is reflected in the changes in care delivery in Spain in the past decade. Much remains to be done in key components of the management of adolescents with cancer.

BackgroundLiquid biopsy has emerged as a promising, non-invasive diagnostic approach in oncology because the analysis of circulating tumor DNA (ctDNA) reflects the precise status of the disease at diagnosis, progression, and response to treatment. DNA methylation profiling is also a potential solution for sensitive and specific detection of many cancers. The combination of both approaches, DNA methylation analysis from ctDNA, provides an extremely useful and minimally invasive tool with high relevance in patients with childhood cancer. Neuroblastoma is an extracranial solid tumor most common in children and responsible for up to 15% of cancer-related deaths. This high death rate has prompted the scientific community to search for new therapeutic targets. DNA methylation also offers a new source for identifying these molecules. However, the limited blood sample size which can be obtained from children with cancer and the fact that ctDNA content may occasionally be diluted by non-tumor cell-free DNA (cfDNA) complicate optimal quantities of material for high-throughput sequencing studies.MethodsIn this article, we present an improved method for ctDNA methylome studies of blood-derived plasma from high-risk neuroblastoma patients. We assessed the electropherogram profiles of ctDNA-containing samples suitable for methylome studies, using 10 ng of plasma-derived ctDNA from 126 samples of 86 high-risk neuroblastoma patients, and evaluated several bioinformatic approaches to analyze DNA methylation sequencing data.ResultsWe demonstrated that enzymatic methyl-sequencing (EM-seq) outperformed bisulfite conversion-based method, based on the lower proportion of PCR duplicates and the higher percentage of unique mapping reads, mean coverage, and genome coverage. The analysis of the electropherogram profiles revealed the presence of nucleosomal multimers, and occasionally high molecular weight DNA. We established that 10% content of the mono-nucleosomal peak is sufficient ctDNA for successful detection of copy number variations and methylation profiles. Quantification of mono-nucleosomal peak also showed that samples at diagnosis contained a higher amount of ctDNA than relapse samples.ConclusionsOur results refine the use of electropherogram profiles to optimize sample selection for subsequent high-throughput analysis and support the use of liquid biopsy followed by enzymatic conversion of unmethylated cysteines to assess the methylomes of neuroblastoma patients.

Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retinoblastoma are 6p12.3pter gain and 6q25.3qter loss. Clinical examination is unremarkable except for clinodactyly of the right fifth finger. Discussion and conclusions We describe a case of mosaic 13q deletion syndrome affected by retinoblastoma. Molecular data obtained from the tumor analysis are similar to previous data available about this malignancy. High clinical suspicion is essential for an adequate diagnosis of mosaic cases.

Background: Liquid biopsy has emerged as a promising, non-invasive diagnostic approach in oncology because the analysis of circulating tumor DNA (ctDNA) reflects the precise status of the disease at diagnosis, progression, and response to treatment. DNA methylation profiling is also a potential solution for sensitive and specific detection of many cancers. The combination of both approaches, DNA methylation analysis from ctDNA, provides an extremely useful and minimally invasive tool with high relevance in patients with childhood cancer. Neuroblastoma is an extracranial solid tumor most common in children and responsible for up to 15% of cancer-related deaths. This high death rate has prompted the scientific community to search for new therapeutic targets. DNA methylation also offers a new source for identifying these molecules. However, the limited blood sample size which can be obtained from children with cancer and the fact that ctDNA content may occasionally be diluted by non-tumor cellfree DNA (cfDNA) complicate optimal quantities of material for high-throughput sequencing studies. Methods: In this article, we present an improved method for ctDNA methylome studies of blood-derived plasma from high-risk neuroblastoma patients. We assessed the electropherogram profiles of ctDNA-containing samples suitable for methylome studies, using 10 ng of plasma-derived ctDNA from 126 samples of 86 high-risk neuroblastoma patients, and evaluated several bioinformatic approaches to analyze DNA methylation sequencing data. Results: We demonstrated that enzymatic methyl-sequencing (EM-seq) outperformed bisulfite conversion-based method, based on the lower proportion of PCR duplicates and the higher percentage of unique mapping reads, mean coverage, and genome coverage. The analysis of the electropherogram profiles revealed the presence of nucleosomal multimers, and occasionally high molecular weight DNA. We established that 10% content of the mono-nucleosomal peak is sufficient ctDNA for successful detection of copy number variations and methylation profiles. Quantification of mononucleosomal peak also showed that samples at diagnosis contained a higher amount of ctDNA than relapse samples. Conclusions: Our results refine the use of electropherogram profiles to optimize sample selection for subsequent high-throughput analysis and support the use of liquid biopsy followed by enzymatic conversion of unmethylated cysteines to assess the methylomes of neuroblastoma patients. [ABSTRACT FROM AUTHOR]