Masa abdominal: presentación inusual de un teratoma inmaduro retroperitoneal en lactante / Abdominal mass: Unusual presentation of a retroperitoneal immature teratoma in an infant

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[Renal tumors in infants aged less than 1 year]. / Tumores renales en niños menores de un año.

OBJECTIVE: To determine the frequency and distribution of primary renal tumors diagnosed in a pediatric oncology unit in children younger than 1 year and identify their clinical and histopathological characteristics, the treatment used, and outcomes. MATERIAL AND METHODS: We retrospectively reviewed the medical records of infants with primary tumors of the kidney diagnosed between January 1972 and February 2003. RESULTS: A total of 137 tumors were diagnosed in our unit during the period studied. Of these, 25 (18.2 %) occurred in infants aged less than 1 year. There were 17 boys and 8 girls. The most prevalent tumor in this age group was Wilms' tumor (WT) in 15 patients, followed by mesoblastic nephroma (MN) in 9 patients and rhabdoid tumor in 1 patient. The mean age at diagnosis of WT was 4.8 months (range: 1 day-11 months), with a median of 5.03 months. The median age at diagnosis of MN was 1 day (range: 1 day-3 months). Presenting symptoms consisted of abdominal mass in 20 patients, hematuria in 4 patients and intestinal pseudo-occlusion (MN) in 1 patient. High blood pressure was found in 12 of the 25 patients. Among the 15 WT, 9 were stage I, 1 was stage II, one was stage III, 2 were stage IV, and 1 was stage V. One patient died before surgery. Overall survival at 5 years was 0.67 (SE 0.12) for WT and 0.89 (SE 0.1) for MN, respectively, with a mean follow-up of 290 months. CONCLUSIONS: MN was more frequent than WT in infants aged less than 6 months. The first-line therapy in these patients is surgery since this type of tumor shows little chemosensitivity and chemotherapy is poorly tolerated in infants.

Tumores renales en niños menores de un año / Renal tumors in infants aged less than 1 year

Objetivo: Conocer la frecuencia y distribución de los tumores renales diagnosticados en una unidad de oncología pediátrica en niños menores de un año, sus características clínicas, anatomopatológicas, tratamientos utilizados y evolución. Material y métodos: Estudio retrospectivo de tumores renales primarios diagnosticados en lactantes en un hospital pediátrico, desde 1972 hasta febrero de 2003. Resultados: Obtuvimos 25 niños menores de un año (18,2 %), de un total de 137 tumores renales registrados. Diecisiete niños y 8 niñas. El más frecuente fue el nefroblastoma (15/25), seguido del nefroma mesoblástico (9/25), y uno fue un tumor rabdoide. La media de edad al diagnóstico fue de 4,8 meses (rango, 1 día-11 meses), la mediana de 5,03 meses; para los nefromas mesoblásticos la mediana fue de 1 día (rango, 1 día-3 meses). La forma de presentación fue como masa abdominal en 20 de ellos, en cuatro hematuria y un recién nacido empezó con obstrucción intestinal (nefroma mesoblástico). Presentaron hipertensión arterial 12/25 niños; 9/15 casos de nefroblastomas eran estadio I; uno, estadio II; uno, estadio III; dos, estadio IV; uno, estadio V, y uno falleció antes de la cirugía. La supervivencia global de los nefroblastomas a los 5 años es de 0,67 (error estándar [EE]: 0,12); y del nefroma mesoblástico de 0,89 (EE: 0,1), con un tiempo de supervivencia media de 290 meses. Conclusiones: En los niños menores de 6 meses el nefroma mesoblástico es más frecuente que el tumor de Wilms, siendo el tratamiento inicial de elección la cirugía, ya que este tipo de tumor es poco quimiosensible y la quimioterapia es peor tolerada en los lactantes

Objective: To determine the frequency and distribution of primary renal tumors diagnosed in a pediatric oncology unit in children younger than 1 year and identify their clinical and histopathological characteristics, the treatment used, and outcomes. Material and methods: We retrospectively reviewed the medical records of infants with primary tumors of the kidney diagnosed between January 1972 and February 2003. Results: A total of 137 tumors were diagnosed in our unit during the period studied. Of these, 25 (18.2 %) occurred in infants aged less than 1 year. There were 17 boys and 8 girls. The most prevalent tumor in this age group was Wilms' tumor (WT) in 15 patients, followed by mesoblastic nephroma (MN) in 9 patients and rhabdoid tumor in 1 patient. The mean age at diagnosis of WT was 4.8 months (range: 1 day-11 months), with a median of 5.03 months. The median age at diagnosis of MN was 1 day (range: 1 day-3 months). Presenting symptoms consisted of abdominal mass in 20 patients, hematuria in 4 patients and intestinal pseudo-occlusion (MN) in 1 patient. High blood pressure was found in 12 of the 25 patients. Among the 15 WT, 9 were stage I, 1 was stage II, one was stage III, 2 were stage IV, and 1 was stage V. One patient died before surgery. Overall survival at 5 years was 0.67 (SE 0.12) for WT and 0.89 (SE 0.1) for MN, respectively, with a mean follow-up of 290 months. Conclusions: MN was more frequent than WT in infants aged less than 6 months. The first-line therapy in these patients is surgery since this type of tumor shows little chemosensitivity and chemotherapy is poorly tolerated in infants

Malformación adenomatoide quística pulmonar y rabdomiosarcoma asociado / Pulmonary cysic adenomatoid malformation and associated rabdomyosarcoma

Niña de 2 años y 7 meses de edad con malformación adenomatoide quística pulmonar (MAQP) que desarrolló un rabdomiosarcoma (RMS) pulmonar. La tumoración estaba localizada en el segmento medial del lóbulo medio derecho e íntimamente adherida al lóbulo pulmonar inferior. El diagnóstico anatomopatológico de la biopsia percutánea fue de RMS embrionario, iniciándose quimioterapia preoperatoria. La intervención quirúrgica consistió en exéresis de la tumoración con resección de los segmentos pulmonares del lóbulo medio e inferior adyacentes. El examen histológico, además de ratificar la estirpe tumoral ya conocida, reveló una MAQP tipo I. Posteriormente completó el tratamiento citostático. Los RMS pulmonares son muy raros en la infancia, sin embargo deben considerarse ante el hallazgo de una masa pulmonar solitaria en un niño, especialmente si existe una MAQP subyacente, entidad que puede favorecer el desarrollo de este tipo de neoplasias (AU)

Síndrome alcohólico fetal. Criterios diagnósticos. Hallazgos en 13 casos estudiados / Fetal alcohol syndrome: diagnostic criteria and findings in 13 cases

El síndrome alcohólico fetal (SAF) es un conjunto de signos clínicos que se presentan en el feto tras la exposición intrauterina al alcohol. Es conocido que el alcohol es el agente teratógeno más frecuente en el ser humano, así como que sus efectos pueden ser evitados, si se elimina la ingestión de alcohol durante el embarazo. Tras el consumo, incluso de pequeñas cantidades, pueden aparecer una serie de signos físicos, neurológicos y conductuales que constituyen el síndrome. En este artículo se hace una actualización simplificada de los criterios diagnósticos del síndrome alcohólico fetal. Se señalan los aspectos principales del metabolismo del alcohol, sus relaciones con la placenta y los posibles mecanismos mediante los que ejerce su acción teratógena. Igualmente, se exponen las características clínicas de 13 casos diagnosticados en nuestro centro en los últimos 5 años (AU)

[Secondary vesical amyloidosis]. / Amiloidosis vesical secundaria.

The bladder involvement is a very unusual fact in systemic amyloidosis. The distinction of primary and systemic amyloidosis disease with bladder involvement (secondary bladder amyloidosis) is important to the urologist. Secondary amyloidosis of the bladder is a rare disease entity (approximately 20 cases published). We document a case of a woman with a large history of rheumatoid arthritis who developed severe macrohematuria. Diagnosis was done by biopsy that revealed amyloidosis, and it was confirmed with an immunohistochemical staining of the specimens that defined the process as amyloid AA (secondary amyloidosis).

Atresia de vías biliares: estudio clínico retrospectivo / Biliary atresia: retrospective clinical study

Objetivo: Obtener un mejor conocimiento del comportamiento de una población de pacientes con diagnóstico de atresia de vías biliares en las distintas fases de la enfermedad. Pacientes y métodos: Estudio retrospectivo, transversal y descriptivo, tipo serie de casos clínicos. Pacientes con diagnóstico de atresia de vías biliares atendidas en la Unidad de Gastroenterología del Hospital Infantil La Fe de Valencia desde enero de 1990 a diciembre del 2000. Resultados: De los 16 niños controlados, en el momento actual permanecen estables ocho, han precisado trasplante hepático seis y han fallecido dos. La edad media al diagnóstico es de 47,5 días de vida. La manifestación clínica más frecuente es la ictericia (87,5 por ciento), y el hallazgo analítico más importante el aumento de la gamma glutamiltranspeptidasa (GGT) (3-4 veces su valor de referencia) en el 100 por ciento de los casos. Las imágenes ecográficas son diagnósticas en el 85,7 por ciento. El Hepato-Hida ofrece una sensibilidad del 100 por ciento. El tratamiento quirúrgico mediante portoenterostomía se realizó en todos los pacientes, con biopsia hepática en el mismo acto. La precocidad en la intervención se refleja en un mejor pronóstico a largo plazo, siendo mejor si ésta se realiza antes de los 65 días de vida. Conclusiones: Un alto índice de sospecha permite el tratamiento quirúrgico precoz, única medida terapéutica que puede condicionar un pronóstico menos desfavorable (AU)

[Biliary atresia: Retrospective clinical study]. / Atresia de vías biliares: estudio clínico retrospectivo.

OBJECTIVE: To gain further insight into the natural history of patients with biliary atresia. PATIENTS AND METHODS: We performed a retrospective, cross-sectional, descriptive, case series study. All patients with biliary atresia attended at the Pediatric Gastrointestinal and Hepatology Unit of La Fe Children's Hospital in Valencia (Spain) from January 1990 to December 2000 were included. RESULTS: Of 16 children followed-up, eight are currently stable, six have undergone liver transplantation and two died. The mean age at diagnosis was 47.5 days. The most frequent clinical manifestation was jaundice (87.5%) and the most common biochemical finding was raised gamma-glutamyltransferase (3-4 times its standard value), which appeared in 100 % of the patients. Abdominal ultrasonography was diagnostic in 85.7% of the patients. Nuclear scintiscan (DISIDA) showed a sensitivity of 100%. Portoenterostomy with intraoperative liver biopsy was performed in all patients. Patient age at surgery was a predictor of long-term outcome, with more favorable results in patients aged less than 65 days of life. CONCLUSIONS: Biliary atresia should be suspected as soon as possible, since early surgical treatment is the only therapeutic measure that can improve outcome.

Amiloidosis vesical secundaria / Secondary bladder amyloidosis

La afectación vesical en la amiloidosis es un hecho poco frecuente, pudiendo distinguir entre formas primarias de amiloidosis vesical y formas de amiloidosis sistémica con afectación vesical (amiloidosisvesical secundaria), lo cual es importante para el urólogo. Ésta constituye una entidad patológica muy infrecuente, en base a la escasez de referencias en la literatura (estimamos que el número de casos de amiloidosis vesical secundaria comunicado no supera los 20). El caso que presentamos corresponde a una amiloidosis vesical secundaria en el seno de una artritis reumatoide de larga evolución, que debutó con hematuria severa. Señalamos la importancia que la inmunohistoquímia representa para el diagnóstico (AU)

The bladder involvement is a very unusual fact in systemic amyloidosis. The distinction of primary and systemic amyloidosis disease with bladder involvement (secondary bladder amyloidosis) is important to the urologist. Secondary amyloidosis of the bladder is a rare disease entity (approximately 20 cases published). We document a case of a woman with a large history of rheumatoid arthritis who developed severe macrohematuria. Diagnosis was done by biopsy that revealed amyloidosis, and it was confirmed with an immunohistochemical staining of the specimens that defined the process as amyloid AA (secondary amyloidosis) (AU)

[Genetic study of six chromophobic renal carcinomas]. / Estudio genético de 6 carcinomas renales cromófobos.

OBJECTIVES: To determine the role of tumor suppressor genes p53 and von Hippel-Lindau (VHL), and the specific loss of chromosomes 1, 2, 3, 6, 10, 13, 17 and 21 in the pathogenesis of Chromophobe Renal Cell Carcinomas (CrRCC). MATERIAL & METHODS: Renal tumor specimens and normal kidney tissue from 6 patients affected of CrRCC were obtained after radical nephrectomy and immediately snap-frozen. PCR-SSCP analysis for mutations of p53 (exons 5-8) and VHL genes was performed in all cases. All of the positive cases in SSCP analysis were further characterized by direct sequencing. Inactivation by VHL methylation were searched by Southern blot analysis. Microsatellite analysis using several markers covering both arms of chromosomes 1, 2, 6, 10, 13 and 17, as well as 3p and 21q, was performed to investigate specific loss of these chromosomes. RESULTS: Mutations of p53 were detected in 2 (33%) of the 6 CrRCCs, showing both tumors loss of heterocigosity (LOH) on 17p. VHL mutations and inactivation by methylation were not detected in any tumor. In 5 (83.3%) of the 6 CrRCCs, microsatellite analysis showed LOH at every informative marker on all the regions tested except 3p. Retention of heterozigosity on 3p was present in all cases. CONCLUSIONS: Mutations of p53 in CrRCCs are more frequent (33% in our series) than in clear cell renal cell carcinomas (< 2% in most series). Despite 65-75% of clear cell RCCs show VHL mutations (60%) and inactivation by methylation (5-20%), no CrRCC in our series showed these alterations. LOH in the specific chromosomes tested (1, 2, 6, 10, 13, 17 and 21) confirm cytogenetic findings that characterize CrRCCs (specific combinations of multiple chromosomal losses). Our results, similar to those reported by other authors, confirm that CrRCC is not only a histologic fenotype, but also a distinctive genotype from other RCCs. The specific combination of chromosomal losses allows a quick and easy diagnostic of this kind of neoplasms with a simple technique of microsatellite analysis.

Estudio genetico de 6 carcinomas renales cromófobos / Genetic study of 6 chromophobic renal carcinoma

OBJETIVOS: Determinar el papel del gen Von Hippel-Lindau y p53 en la patogénesis del Carcinoma de Células Renales Cromófobas (CCRCr) y se analiza la frecuencia de pérdidas genéticas en los cromosomas 1, 2, 3p, 6, 10, 13, 17 y 21q. MATERIAL Y MÉTODO: Se obtuvieron especímenes de tumor renal y riñón sano de 6 pacientes afectos de CCRCr directamente de las piezas de nefrectomía radical e inmediatamente fueron congeladas y almacenadas a -80°C. Se practicó un análisis de PCR-SSCP para la identificación de mutaciones en p53 (exones 5-8) y en el gen VHL. Todos los casos positivos en el análisis de SSCP's se caracterizaron posteriormente mediante secuenciación directa. La inactivación por metilación del gen VHL se buscó mediante Southern-blotting. Para investigar pérdidas específicas de diversos cromosomas se practicó análisis de microsatélites utilizando diversos marcadores localizados en ambos brazos de los cromosomas l , 2, 6, 10, 13 y 17, así como en 3p y 21 q. RESULTADOS: No se detectaron mutaciones ni inactivación por metilación del gen VHL en ningún tumor. La mutación del p53 se detectó en 2 (33 por ciento) de los 6 CCRCr, mostrando ambos tumores pérdida de heterocigosidad (LOH) en 17p. En 5 (83,3 por ciento) de los 6 CCRCr, el análisis de microsatélites mostró LOH en todos los marcadores informativos de todas las regiones excepto en 3p. Todos los casos mostraron retención de heterocigosidad en 3p. CONCLUSIONES: Las mutaciones de p53 en CCRCr son más frecuentes (33 por ciento en nuestra serie) que en los carcinomas convencionales o de células claras (< 2 por ciento en la mayoría de las series). A pesar de que el 65-75 por ciento de los carcinomas renales convencionales presenta mutaciones (60 por ciento) e inactivación por metilación (5-20 por ciento) del gen VHL, ningún CCRCr en nuestra serie mostró estas alteraciones. LOH en los cromosomas específicos testados (1. 2, 6, 10, 13, 17 y 21) confirman los hallazgos citogenéticos que caracterizan a los CCRCr. Nuestros resultados confirman que el CCRCr no es sólo un fenotipo histológico, sino también un genotipo distintivo de los otros carcinomas de células renales. La combinación específica de pérdidas cromosómicas permite un rápido y fácil diagnóstico de esta neoplasia con una simple técnica de microsatélites. (AU)

Sintomatología de debut en la esclerosis tuberosa. Revisión de 19 casos estudiados / Initial symptomatology in tuberous sclerosis. Review of nineteen patients

La esclerosis tuberosa es un proceso que se inicia en los primeros años de vida; la sintomatología neurológica y las lesiones cutáneas son de aparición precoz y muy características. Las convulsiones y el retraso mental son los síntomas que con más frecuencia motivan la consulta. Objetivos: Revisamos la sintomatología presentada en 19 pacientes pediátricos afectos de la enfermedad, con la finalidad de analizar el cuadro clínico que motivó la consulta y que hizo posible el diagnóstico. Métodos: Se revisan los criterios diagnósticos de la entidad, los síntomas de debut y la evolución de los mismos. Se describen otras anomalías detectadas, el tratamiento que recibieron y la evolución presentada. Resultados: Las convulsiones fueron en la mayoría de los casos el principal síntoma que condujo al diagnóstico, junto con la presencia de las lesiones cutáneas típicas, que estaban presentes en todos los casos. En cuanto al tipo de crisis presentadas en su debut son los espasmos en flexión los más frecuentes, seguido de crisis generalizadas y de crisis parciales. El retraso mental está presente igualmente en un porcentaje elevado de casos, si bien no fue el principal síntoma que motivó la consulta. Conclusiones: La aparición de cuadros convulsivos tempranos, sobre todo el Síndrome de West, unido a la presencia de máculas hipopigmentadas, ha sido la sintomatología que nos ha facilitado el diagnóstico, confirmado al demostrar la existencia de lesiones hamartomatosas en el SNC y de la mutación genética en los casos en los que ha sido posible su realización. La evolución es crónica y la respuesta al tratamiento anticonvulsivo es irregular, lo que está correlacionado con el número, localización y tamaño de las lesiones orgánicas cerebrales. La sintomatología extraneurológica en nuestros pacientes es escasa y con poca repercusión clínica (AU)

A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.

A search of TP53 mutations was undertaken in a series of 51 pediatric brain tumors. The only germ-line mutation was detected in a 9-year-old girl with a PNET. Her family history was unremarkable for neoplastic disease, except for the paternal grandfather, who died of a gallbladder carcinoma at an advanced age. The mutation was a thymine deletion at the first base of codon 241, leading to termination codon at position 246 that has not previously been reported. This mutation was found to be inherited from the proband's father, who was healthy at age 40. In the tumoral sample, loss of heterozygosity in several 17p markers was found, the only TP53 allele preserved in the tumor was the mutated one. The presence of two short tandem repeats and two different palindromic sequences spanning the deletion lead us to propose the predisposition of this region to forming a complex secondary structure during replication. Consequently, it could have facilitated the present deletion. Furthermore, six other short deletions affecting--partially or totally--the region implicated in the folding model that we propose have been described in the literature. These findings confirm that this sequence represents a hotspot of deletion in the TP53 gene.

Pediatric brain tumors: loss of heterozygosity at 17p and TP53 gene mutations.

Cytogenetic and molecular analyses of primitive neuroectodermal tumors (PNETs) of the central nervous system (CNS) have demonstrated material losses of 17p, the region that contains the TP53 gene, as the most frequent abnormality. Mutations in the TP53 gene are, however, very rare in these tumors. These findings strongly suggest that another, as yet unidentified, gene on 17p may be involved. We performed a search for loss of heterozygosity (LOH) on 17p by microsatellite markers on 26 childhood CNS tumors as well as TP53 gene mutations (exons 5-8) by single-strand conformational polymorphism analysis on 41 pediatric brain tumor samples of distinct histologic types. LOH was detected in 10 cases: 7 PNET, 2 astrocytomas, and 1 glioblastoma multiforme. In 4 of the PNETs the losses were limited to more distal markers. On the other hand, TP53 mutations were detected in 6 of 41 samples studied. Our results not only confirm the low penetrance of the TP53 gene on pediatric CNS tumors, but also provide further evidence of a putative tumor suppressor gene distal to TP53, between markers (D17S938, D17S926) and 17pter, specifically taking part in the development of PNET.

Neonatal dermal hematopoiesis associated with diffuse neonatal hemangiomatosis.

This report describes a neonate with dermal hematopoiesis associated with diffuse hemangiomatosis. The cutaneous lesions consisted of multiple red papules and bluish subcutaneous nodules scattered over his body. The nodules were bluish due to the presence of hematopoietic tissue within the hemangiomas. Although neonatal dermal hematopoiesis has been described with viral infections or hematologic dyscrasias, the association with diffuse hemangiomatosis has not been previously described.

[Study of DNA content and its association with staging, tumor size, architecture, cell type, and nuclear grade in renal adenocarcinoma]. / Estudio del contenido en ADN y de su asociación con el estadio, tamaño tumoral, arquitectura, tipo celular y grado nuclear en el adenocarcinoma renal.

OBJECTIVE: To present the results of the analysis of DNA content in renal adenocarcinoma and its correlation with histopathological findings as a first step to conduct predictive studies. MATERIAL AND METHOD: DNA analysis was carried out by flow cytometry in deparaffined and fresh samples (1-4 per tumour) from 192 tumours. Correlation to stage, size, growth pattern and grade was studied using the squared chi test. RESULTS: The percentage of non-diploid tumours increased with the number of samples analyzed. Use of multiple sampling allowed to classify as non-diploid an additional 19% tumours. 57% tumours were homogeneously diploid, while the rest were non-diploid showing a wide variety of patterns: homogeneous, heterogeneous, and even tumours with more than one different non-diploid population. A positive correlation was seen between DNA content pattern, pathological stage and grade. CONCLUSIONS: Multiple sampling is essential to obtain representative information on DNA content. Prior to conduct predictive studies, the correlation between DNA content, stage and grade should be studied to preclude addition of non-independent information.

Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25).

This report describes a chromosomal abnormality in an 8-year-old boy with renal adenocarcinoma. All tumor cells had the karyotype 46,XY, t(X;17)(p11.2;q25). This karyotype is compared with the cytogenetic descriptions of renal cell adenocarcinoma in two other pediatric patients and in adults.

[Non-Hodgkin's lymphoma in childhood: 19-year experience in a pediatric oncology unit]. / Linfomas no Hodgkin en la infancia: 19 años de experiencia en una unidad de oncología pediátrica.

Ninety-one patients with Non-Hodgkin's Lymphoma (NHL) were treated in our Pediatric Oncology Unit during a 19 year period. The median age at diagnosis was 5.8 years and there was a higher incidence in males. All patients were classified according to Murphy's stages and Rappaport's modified classification. Advanced disease and non-lymphoblastic histology were prevailing. Chemotherapy was the preferred treatment. Forty-seven patients (54%) are alive with a median follow-up period of 6.2 years. Actuarial survival rate at 5 years is 0.6. Advances in chemotherapy led to an increase in NHL patient's survival. Twenty patients died because of the disease and 21 because of fatal complications.