[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.

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.

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.

Formation and growth of the cerebral convolutions. II. Cell death in the gyrus suprasylvius and adjoining sulci in the cat.

Cell death, calculated by counting pyknotic nuclei to assess the number of dying cells, in the gyrus suprasylvius (GS-Syl) and adjoining sulci sulcus lateralis (SL) and sulcus suprasylvius (SS-Syl) was studied in cats aged 5, 15, 25 days and 6 months. Three patterns of cell death were characterized: (1) an ascending gradient from the inner to the upper cortical layers; (2) a lateromedial gradient from the SS-Syl towards the SL; and (3) a predominance of cell death in the sulcal zones. These patterns are in accordance with the sequence of cortical neurogenesis, the lateromedial pattern of the whole formation and growth of the GS-Syl and adjoining sulci, and the differences in the cortical thickness between the sulci and the gyral crown.

[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.

[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.

[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).

[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.

[Subungual keratoacanthoma]. / Queratoacantoma subungueal.

We present a case of subungueal keratoacanthoma. The tumor recurred three months after extirpation and didn't resolve spontaneously. The patient need a new surgery a year later. We revised the literature and comment the clinical and histological features that define this distinct entity and differentiate it from common keratoacanthoma and subungueal squamous cell carcinoma.

Formation and growth of the cerebral convolutions. I. Postnatal development of the median-suprasylvian gyrus and adjoining sulci in the cat.

The postnatal development of these median-suprasylvian gyrus and adjoining sulci was studied in cats 1, 5, 15, 25 days and six months old. The median-suprasylvian gyrus (G.S.-Syl.) grows according to a lateral to medial intracortical gradient in which the adjoining sulci, sulcus lateralis (S.L.) and median-suprasylvian sulcus (S.S-Syl.), are considered to be fixed zones because of their relatively constant distance from the ventricular wall throughout the development. Thus the formation of the S.L. is a consequence of the increase in volume of the gyral region adjacent to this developing sulcus, whereas there is a smaller increase in volume of the gyral region adjacent to the almost fully formed, at birth, S.S-Syl. This increase in volume is associated with a regional increase in the number of nerve cells and with an increase in the density of neurons in the region adjacent to the S.L. as it fades in the region adjacent to the S.S-Syl. This process takes place from Day 1 until about Day 25 of postnatal life. An intralaminar displacement of nerve cells also occurs during the process of cortical folding:nerve cell columns converge towards the hilum in the gyral region, but the columns progressively curve following the concavity of the infolding in the sulcal zones; as a result, although the length of nerve cell columns tends to be preserved to some extent along the gyrus, the cerebral cortex is progressively thinner in the sulci than in the gyri and the molecular layer is progressively thicker in the former than in the latter. This process also occurs following a lateral to medial gradient in the G.S.-Syl. The present observations may suggest that cortical folding is largely dependent on intracortical mechanical forces but the regular distribution of the sulci, together with the orderly spatio-temporal pattern of gyral growth, points to the conclusion that this process may be controlled by extracortical signals.

Evidence of spinal cord injury in an infant delivered by cesarean section. A case report.

A 3-month-old female infant is reported with upper spinal cord injury at birth. Breech presentation and hyperextension of head were observed 1 week prior to delivery. She was delivered by elective cesarean section. The absence of fetal movements 1 day prior to delivery and the uneventful cesarean section strongly suggest a spinal cord injury in utero secondary to hyperextension of the neck.

[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.

Computed tomography in the evaluation of the gluteal region.

The role of computed tomography (CT) in the evaluation of the gluteal region was assessed. Six cases of gluteal masses were studied preoperatively by CT; several were also studied with conventional radiographic methods, including barium enema, cystogram, and intravenous urogram. Our case material included an epithelioid sarcoma, Ewing's sarcoma, endodermal sinus tumor, cystic hygroma, neurofibromatosis, and a normal variant. The conventional radiologic studies were normal or demonstrated nonspecific soft tissue density mass effect. By comparison, CT, with its cross-sectional imaging capability, provided unique diagnostic information. CT depicted the presence and origin of a mass, provided tissue characterization, and showed the extent of the lesion, often demonstrating the gluteal mass as an extension of an intrapelvic lesion. CT was valuable in monitoring tumor response to therapy, detecting recurrences, and excluding normal variants as the cause for a gluteal mass. The information provided by CT was important in treatment planning.

[Retinoblastoma: multidisciplinary treatment in a group of 32 patients]. / Retinoblastoma: tratamiento multidisciplinario en una serie de 32 pacientes.

Thirty-two children with retinoblastoma (RTB) were treated in our oncology unit between September 1981 and October 1989. There were 18 unilateral RTB and 14 bilateral. The median age at diagnosis was 24 months. Leukocoria was the most common sign of presentation (66%). All patients were treated with a protocol based on Reese-Ellsworth classification and the anatomo-clinic extension. Thirty patients were enucleated (7 bilaterally), 14 of which needed coadjuvant chemotherapy and 6 orbital radiotherapy. Two patients died, one from each group. The disease-free survival rate is 90.6% with a medium follow-up of 43.5 months. Seven children went blind because of bilateral enucleation and seven present facial deformity caused by radiotherapy. We underline the importance of improving the effectiveness of conservative treatment in order to reduce the number of enucleation.

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.

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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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)