Sección de Oncología y Hematología Pediátricas del Hospital General Universitario Gregorio Marañón / Pediatric Oncology and Hematology Area of the Hospital General Universitario Gregorio Marañón

La Unidad de Oncología y Hematología Infantil del Hospital Gregorio Marañón comenzó su andadura en los años 70, presentando desde entonces un crecimiento progresivo y una modernización acorde con la evolución de la propia especialidad. En esta monografía se describe la organización de la sección, así como los recursos estructurales, las características del trabajo asistencial, la actividad docente e investigadora y la participación en diversos grupos de trabajo colaborativos o multidisciplinares. Se destaca la capacidad de abordaje integral de este tipo de patologías en todas las fases de las mismas, desde el diagnóstico al tratamiento, sin Olvidar el aspecto psicosocial o la atención paliativa en su fase terminal, si fuera necesario. En conjunto, se dibuja un cuadro que es una obra coral de muchos profesionales sanitarios (personal médico, psicooncología, enfermería, auxiliares...) y no sanitarios, pero cuyo tema principal es proporcionar la mejor asistencia posible al niño y a su familia (AU)

The Pediatric Oncology and Hematology Unit at the Gregorio Marañón Children's Hospital began its activity in the 705, presenting since then a progressive growth and modernization in accordance with the evolution of the specialty itself… In this paper we describe the organization of the section, our structural resources, the characteristics of care work, teaching and research activities and our participation in various collaborative or multidisciplinary work groups. It is remarkable the ability to comprehensively address this type of pathologies in its different phases, from diagnosis to treatment, without forgetting to mention the psychosocial aspect or palliative care in its terminal phase, if necessary. Altogether, a choral picture is drawn with the work of many health professionals (medical, psycho-oncology, nursing, assistants …) and non—health, but the main theme is to provide the best care for the child and his family (AU)

Evaluación de la densidad mineral ósea en pacientes con enfermedad de células falciformes / Evaluation of bone mineral density in children with sickle cell disease

OBJETIVO: Evaluar la densidad mineral ósea (DMO) en niños con enfermedad de células falciformes (ECF) de la Comunidad de Madrid. MATERIAL Y MÉTODOS: Se valora la DMO en un total de 40 niños con ECF y rango de edad entre 3-16 años, mediante densitometría (DEXA) siguiendo las recomendaciones de la Sociedad Internacional de Densitometría Clínica (ISCD). RESULTADOS:La edad media en el momento del estudio fue de 7,97 ± 3,95 años; el valor medio de la DEXA expresado en Z-score es de -0,91 ± 1,46 con un rango de valores mínimo de -5,30 y máximo de 2,30. Un 57,5% de los niños tiene DMO normal (Z > -1), un 25% tienen DMO baja (Z entre -1 y -2) y un 17,5% presentan Z-score patológico con valores de osteoporosis (Z-score<-2). Los estudios de correlación solo encuentran una correlación lineal de Pearson significativa estadísticamente entre valor de Z-score y valor de Hb (r = 0,368, p = 0,019), no encontrando correlación con los niveles de 25 (OH) D. CONCLUSIÓN: Se necesitan estudios prospectivos, con mayor número de enfermos para conocer las implicaciones futuras de la densitometría alterada y los factores de riesgo asociados

OBJECTIVE: To evaluate bone mineral density (BMD) in children with sickle cell disease (SCD) in the Community of Madrid. MATERIAL AND METHODS: The BMD was estimated in 40 children with SCD, and with an age range between 3 and 16 years, using densitometry (DXA), as recommended by the International Society for Clinical Densitometry (ISCD). RESULTS: The mean age at the time of the study was 7.97 ± 3.95 years, the mean value of the DXA expressed in Z -score was -0.91 ± 1.46 with a range of minimum values - 5.30 and 2.30 maximum. More than half (57.5%) of all the children had normal BMD (Z > -1), 25% had low BMD (Z between -1 and -2), and 17.5% showed an abnormal Z -score values of osteoporosis (Z -score < -2). The Pearson linear correlation was statistically significant between Z -score value and the haemoglobin level (r = 0.368, p = .019), finding no correlation with the levels of 25 (OH) vitamin D. CONCLUSION: Prospective studies are needed with a larger number of patients to understand the future implications of bone densitometry changes and associated risk factors

[Evaluation of bone mineral density in children with sickle cell disease]. / Evaluación de la densidad mineral ósea en pacientes con enfermedad de células falciformes.

OBJECTIVE: To evaluate bone mineral density (BMD) in children with sickle cell disease (SCD) in the Community of Madrid. MATERIAL AND METHODS: The BMD was estimated in 40 children with SCD, and with an age range between 3 and 16 years, using densitometry (DXA), as recommended by the International Society for Clinical Densitometry (ISCD). RESULTS: The mean age at the time of the study was 7.97±3.95 years, the mean value of the DXA expressed in Z -score was -0.91±1.46 with a range of minimum values - 5.30 and 2.30 maximum. More than half (57.5%) of all the children had normal BMD (Z>-1), 25% had low BMD (Z between -1 and -2), and 17.5% showed an abnormal Z -score values of osteoporosis (Z -score<-2). The Pearson linear correlation was statistically significant between Z -score value and the haemoglobin level (r=0.368, p=.019), finding no correlation with the levels of 25 (OH) vitamin D. CONCLUSION: Prospective studies are needed with a larger number of patients to understand the future implications of bone densitometry changes and associated risk factors.

Complicaciones neurológicas en la enfermedad falciforme / Neurological complications in falciform disease

No disponible

[Thrombocytosis in the oncology-haematology clinic: description, aetiological diagnosis and progression thrombocytosis]. / Trombocitosis en la consulta de oncohematología. Descripción, diagnóstico etiológico y evolución.

INTRODUCTION: Thrombocytosis is a common cause of patient referral to a paediatric haematologist specialist which requires a significant number of laboratory tests and visits to confirm the diagnosis. The aim of our study has been to analyse the characteristics of patients referred to our centre for specialised thrombocytosis assessment. Based on this assessment we established the criteria patients must fulfil to be recommend for further hospital study. PATIENTS AND METHODS: We categorised the 33 patients referred for thrombocytosis assessment according to sex, age, origin, personal and family history, platelet count at diagnosis and the reason why the red and white blood count at diagnosis (Haemoglobin, mean corpuscular volume, mean corpuscular haemoglobin, leukocyte, neutrophils, lymphocyte and monocyte count), maximum platelet count during follow-up and other complementary examinations were done. The final diagnosis itself and number of previous visits before were also considered. The classification used to grade thrombocytosis was: low (500-700 X 10(3)/microl), mild (700-900 x 10(3)/microl), severe (900-1.000 x 10(3)/microl) and extreme (> 1.000 x 10(3)/microl). RESULTS: There was no predominance of males or females. 45 % of patients were under 2 years old and 55 % of them came from their primary care centre. The mean platelet count at the first medical visit was 669,000 (mild thrombocytosis). During follow-up, 24 % of the patients reached extreme platelets levels. In 28 % the initial blood count was performed because of an infection. The most frequently requested laboratory test was iron metabolism (82 % of the cases). All cases correspond to secondary thrombocytosis (48 % were reactive to infections, 24 % secondary to iron deficiency, and 15 % were associated to both causes). The mean number of visits before hospital discharge was 5.12. CONCLUSIONS: The finding of thrombocytosis in the majority of the cases studied was casual or in the context of an infectious process. Most of the thrombocytosis were mild. Due to the extremely low incidence of primary thrombocytosis in childhood and the fact that diagnosis is made by exclusion of other possibilities, the initial study of these patients should be done in primary care centres. The first conditions to be ruled out are infectious, inflammatory or bleeding processes. Once these causes are excluded, the most useful complementary test is to measure iron level given the relation between iron deficiency and thrombocytosis. Once these causes are ruled out and thrombocytosis persists, it would then be indicated to refer the patient to a paediatric oncology-haematology department for a more exhaustive follow-up.

Trombocitosis en la consulta de oncohematología. Descripción, diagnóstico etiológico y evolución / Thrombocytosis in the oncology-haematology clinic: Description, aetiological diagnosis and outcome

Introducción: La trombocitosis es un motivo frecuente de consulta en oncohematología infantil, y precisa un importante número de visitas y determinaciones analíticas para su diagnóstico o resolución. Nuestro objetivo ha sido evaluar las características de los pacientes derivados a nuestro servicio en los últimos meses para estudio de trombocitosis y establecer cuáles deberían ser los pacientes que precisan un estudio más exhaustivo en el hospital. Pacientes y métodos: Se determina en 33 pacientes derivados por este motivo el sexo, el rango de edad, la procedencia, los antecedentes personales y familiares, el grado de trombocitosis por la que se consulta y la cifra máxima durante el seguimiento, el motivo por el que se realiza la primera analítica, los valores hematimétricos en la primera analítica (hemoglobina [Hb], volumen corpuscular medio [VCM], hemoglobina corpuscular media [HCM], leucocitos [linfocitos y neutrófilos]), las exploraciones complementarias realizadas, el diagnóstico y el número de visitas que precisaron antes del alta. Se clasifica la trombocitosis en leve (500-700 × 103/μl), moderada (700-900 × 103/μl), grave (900-1.000 × 103/μl) y extrema (> 1.000 × 103/μl). Resultados: No hubo predominancia de sexos. El 45 % de los pacientes eran menores de 2 años. Procedían en un 55 % de su centro de salud. La cifra media de plaquetas por la que consultaron fue de 669.000 (trombocitosis leve). En el seguimiento llegaron a cifras extremas el 24 %. En el 28 % la analítica se había realizado por un cuadro infeccioso. La exploración complementaria más solicitada fue el metabolismo del hierro (en el 82 %). Todos se corresponden con trombocitosis secundarias (el 48 % reactivas a infecciones, el 24 % secundarias a ferropenia y el 15 % por ambas causas). El número medio de visitas ha sido de 5,12. Conclusiones: El hallazgo de la trombocitosis es en la mayoría de los casos casual o en el contexto de un cuadro infeccioso y, además, son leves. Dada la baja incidencia de trombocitosis primaria en la infancia y que el diagnóstico es de exclusión, se debería iniciar el estudio de la misma en la consulta de atención primaria, descartando inicialmente una causa infecciosa, inflamatoria o secundaria a sangrado. Una vez descartadas estas causas la prueba complementaria más rentable es el metabolismo del hierro, dada la asociación de ferropenia con trombocitosis. Si también se excluye esta etiología y se comprueba la persistencia de la trombocitosis, estaría indicado derivar al paciente a un servicio de oncohematología infantil para completar estudio (AU)

Introduction: Thrombocytosis is a common cause of patient referral to a paediatric haematologist specialist which requires a significant number of laboratory tests and visits to confirm the diagnosis. The aim of our study has been to analyse the characteristics of patients referred to our centre for specialised thrombocytosis assessment. Based on this assessment we established the criteria patients must fulfil to be recommend for further hospital study. Patients and methods: We categorised the 33 patients referred for thrombocytosis assessment according to sex, age, origin, personal and family history, platelet count at diagnosis and the reason why the red and white blood count at diagnosis (Haemoglobin, mean corpuscular volume, meen corpuscular haemoglobin, leukocyte, neutrophils, lymphocyte and monocyte count), maximum platelet count during follow-up and other complementary examinations were done. The final diagnosis itself and number of previous visits before were also considered. The classification used to grade thrombocytosis was: low (500-700 × 103/μl), mild (700-900 × 103/μl), severe (900-1.000 × 103/μl) and extreme (> 1.000 × 103/μl). Results: There was no predominance of males or females. 45 % of patients were under 2 years old and 55 % of them came from their primary care centre. The mean platelet count at the first medical visit was 669,000 (mild thrombocytosis). During follow-up, 24 % of the patients reached extreme platelets levels. In 28 % the initial blood count was performed because of an infection. The most frequently requested laboratory test was iron metabolism (82 % of the cases). All cases correspond to secondary thrombocytosis (48 % were reactive to infections, 24 % secondary to iron deficiency, and 15 % were associated to both causes). The mean number of visits before hospital discharge was 5.12. Conclusions: The finding of thrombocytosis in the majority of the cases studied was casual or in the context of an infectious process. Most of the thrombocytosis were mild. Due to the extremely low incidence of primary thrombocytosis in childhood and the fact that diagnosis is made by exclusion of other possibilities, the initial study of these patients should be done in primary care centres. The first conditions to be ruled out are infectious, inflammatory or bleeding processes. Once these causes are excluded, the most useful complementary test is to measure iron level given the relation between iron deficiency and thrombocytosis. Once these causes are ruled out and thrombocytosis persists, it would then be indicated to refer the patient to a paediatric oncology-haematology department for a more exhaustive follow-up (AU)

Anemia falciforme. Manejo en Atención Primaria / No disponible

La anemia falciforme es una hemoglobinopatía estructural de origen genético, caracterizadapor la presencia de hemoglobina S, que, debido a la presión inmigratoria, es cada vez másfrecuente en nuestro medio. La hemoglobina anormal es inestable, tiende a polimerizarse yocluir la microcirculación, produciendo manifestaciones multisistémicas tanto agudas comocrónicas, y aumenta la susceptibilidad a infecciones. Se comentan la genética, la fisiopatología,el diagnóstico clínico y de laboratorio, el cribado neonatal, el manejo adecuado de los principalesproblemas agudos –ya que algunos pueden desarrollar rápidamente complicaciones queafectan a la vida del paciente–, pautas de seguimiento, programa de inmunizaciones y tratamiento.Dada la complejidad de la enfermedad es necesario plantear un manejo multidisciplinary coordinado entre la Atención Primaria y la Especializada que incluya la realización decontroles periódicos completos, así como la educación del paciente y de su familia, ya que todoello disminuye la morbilidad y la mortalidad y mejora la calidad de vida de estos pacientes

Sickle cell disease is a genetic structural haemoglobinopathy characterized by the presenceof haemoglobin S that is becoming more prevalent in our environment because of the presentimmigrating pressure. The abnormal haemoglobin is unstable, tends to polymerize occludingthe microcirculation what produces acute and chronic multisystem manifestations andincreases the susceptibility of infections. Genetic aspects, physiopathology, clinical and laboratorydiagnosis, neonatal screening, appropriate care of the main acute manifestations as lifethreateningcomplications that may develop rapidly, a follow-up plan, immunizations and treatmentare discussed. Due to the complexity of the disease a multidisciplinary care isnecessary coordinating primary care with specialized clinical management that includes periodiccomprehensive evaluations and patient and family education as this decreases morbidityand mortality and improves quality of life for these patients (AU)

[Evaluation of systematic neonatal screening for sickle cell diseases in Madrid three years after its introduction]. / Evaluación en el tercer año de implantación del cribado neonatal universal de anemia falciforme en la Comunidad de Madrid.

BACKGROUND: Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe. Complications secondary to this disease are common during the first 3 years of life and early diagnosis has been recommended to reduce their development. The autonomous community of Madrid began to perform universal neonatal screening for hemoglobinopathies in May 2003. This study presents the results of the first 32 months of this screening program. METHODS: A prospective, descriptive study was designed to include all the neonates born in centers in the autonomous community of Madrid from May 2003 to December 2005. A heel prick dried blood spot from the Guthrie card was analyzed by high-performance liquid chromatography to detect hemoglobin F, A, S, C, D and E. RESULTS: A total of 190,238 newborns were analyzed, and 1060 hemoglobin variants (5.57 for every 1000 births) were detected. Thirty-one were sickle cell diseases and appropriate antibiotics, vaccination and comprehensive care were initiated. Prenatal diagnosis of subsequent pregnancies was performed in three families after parental investigation. Carrier parents were from 44 countries of origin. CONCLUSIONS: Although sickle cell disease was considered anecdotic in Spain until recently, the diagnosis of this entity has markedly increased as a result of immigration. The universal screening program is expected to reduce morbidity and mortality in the first years of life.

Evaluación en el tercer año de implantación del cribado neonatal universal de anemia falciforme en la Comunidad de Madrid / Evaluation of systematic neonatal screening for sickle cell diseases in Madrid three years after its introduction

Antecedentes: La anemia falciforme es una enfermedad hereditaria que como resultado de las migraciones, constituye una de las alteraciones genéticas más frecuentes en el noroeste de Europa. Las complicaciones secundarias a la enfermedad son frecuentes durante los primeros 3 años de vida, y se viene recomendando un diagnóstico precoz para disminuirlas. La Comunidad de Madrid (CM) inició el cribado universal neonatal de hemoglobinopatías en mayo de 2003. El objetivo de este trabajo es presentar los resultados de los primeros 32 meses de implantación de este programa. Métodos: Estudio prospectivo, descriptivo que incluye a toda la población de recién nacidos en cualquier centro de la CM desde mayo de 2003 a diciembre de 2005. La muestra de sangre fue la primera prueba del talón obtenida en las maternidades de forma sistemática a partir de las 48 h de vida del niño. Se analizó por cromatografía líquida de alta resolución (HPLC) para detectar hemoglobina (Hb) F, A, S, C, D y E. Resultados: Se analizaron 190.238 niños y se detectaron 1.060 variantes de hemoglobina (5,57 por cada 1.000 nacimientos). Un total de 31 de ellas fueron variantes de enfermedad falciforme (0,16 por cada 1.000 nacimientos), instaurándose antibioterapia profiláctica, vacunación apropiada y cuidados globales. El estudio de progenitores motivó la realización en embarazos posteriores de diagnóstico prenatal en 3 familias. El origen de los padres portadores de variantes de Hb abarcó 44 países. Conclusiones: Aunque la enfermedad de células falciformes ha sido considerada anecdótica en España hasta fechas recientes, el aumento en la inmigración ha supuesto un notable incremento en su diagnóstico. Se espera que el programa de cribado neonatal disminuya la morbilidad y mortalidad en los primeros años de vida

Background: Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe. Complications secondary to this disease are common during the first 3 years of life and early diagnosis has been recommended to reduce their development. The autonomous community of Madrid began to perform universal neonatal screening for hemoglobinopathies in May 2003. This study presents the results of the first 32 months of this screening program. Methods: A prospective, descriptive study was designed to include all the neonates born in centers in the autonomous community of Madrid from May 2003 to December 2005. A heel prick dried blood spot from the Guthrie card was analyzed by high-performance liquid chromatography to detect hemoglobin F, A, S, C, D and E. Results: A total of 190238 newborns were analyzed, and 1060 hemoglobin variants (5.57 for every 1000 births) were detected. Thirty-one were sickle cell diseases and appropriate antibiotics, vaccination and comprehensive care were initiated. Prenatal diagnosis of subsequent pregnancies was performed in three families after parental investigation. Carrier parents were from 44 countries of origin. Conclusions: Although sickle cell disease was considered anecdotic in Spain until recently, the diagnosis of this entity has markedly increased as a result of immigration. The universal screening program is expected to reduce morbidity and mortality in the first years of life

[The treatment results in children with malignant mesenchymal tumors according to the protocols of the International Society of Pediatric Oncology (SIOP)]. / Resultados del tratamiento de niños con tumores mesenquimales malignos según protocolos de la Sociedad Internacional de Oncología Pediátrica (SIOP).

OBJECTIVE: To evaluate the SIOP protocols in the treatment of mesenchymal tumors. PATIENTS AND METHODS: We present the results obtained in 28 children diagnosed at a single pediatric hematology-oncology unit of having malignant mesenchymal tumors. These diagnoses were made between April 1981 and June 1994 and the children were treated following the consecutive SIOP protocols which have the objective of curing the disease with minimal sequelae. The first four patients with rhabdomyosarcoma were treated with MMT-SIOP 75, the next 9 children, also diagnosed with rhabdomyosarcoma, were treated with MMT-SIOP 84. During the same period of time, there was a case of synovial sarcoma treated only with surgical excision. The last 14 patients were included in the current protocol, initiated in 1989. Eleven of these patients had rhabdomyosarcoma and 3 synovial sarcoma. RESULTS: Overall survival and event-free survival at 5 years were 58% and 36%, respectively. Toxicity never was an important factor, although it was increasingly frequent and severe as protocols evolved. CONCLUSIONS: We conclude that our results are similar to those obtained in patients treated with SIOP protocols.

Fatal Mycobacterium avium complex disease in a patient with acute nonlymphoblastic leukemia.

PURPOSE: The objective of this article was to present the diagnosis of a fatal infection by Mycobacterium avium complex (MAC) in a child with acute myelogenous leukemia, a disease rarely reported in non-HIV infected children. METHODS: Specific identification of MAC was made by culture in BACTEC system from an open lung biopsy. RESULTS: A 5-year-old girl diagnosed with acute nonlymphoblastic leukemia was admitted because of fever during the maintenance phase after achieving a complete remission of her malignancy. A mild dry cough started on day 4 of admission, and a chest roentgenogram revealed a pulmonary infiltrate. An insidious respiratory distress developed and mechanical ventilation was undertaken. An open-lung biopsy, carried out on day 10 of ventilatory support, revealed acid-fast bacilli subsequently grown as MAC. In spite of combined antimycobacterial treatment, the patient followed a downhill course and died on day 41 of hospitalization. CONCLUSION: This report describes a new case of fatal MAC infection in an immunocompromised, non-HIV infected child. MAC must be added to the list of infectious microorganisms that can infect children with acute nonlymphoblastic leukemia. As modern immunosuppressive therapeutic modalities evolve, it is likely that MAC will become a more common and recognized pathogen in the immunocompromised child.