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OBJECTIVE: Determine the histopathological and clinical characteristics of patients diagnosed with meningiomas and to establish the frequency of these tumors in the pediatric population Mexican. Determine the NF1/2 frequency in meningioma pediatric. METHODS: Samples from the histopathology file were reviewed, and from the complete clinical file the following patient data was reviewed: age, gender, diagnosis, diagnosis year, surgical resection, location, tumor size, symptoms, and family background. The frequency of NF1/2 in pediatric meningioma was reviewed in literature. RESULTS: Forty-four de novo cases were collected from pediatric patients; 19 were female patients and 25 males. The most frequent histological subtype was transitional meningioma. Of all the cases, 75% had a supratentorial localization and 20% had an extramedullary intrarachidian localization. Some clinical manifestations included seizures, paresis, headache, and visual disturbances. CONCLUSION: There is a low incidence of meningiomas in the pediatric population, more than 70% are Grade I, and they have supratentorial localization.
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Meningioma , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/epidemiologia , Neoplasias Meníngeas/patologia , Meningioma/diagnóstico , Meningioma/epidemiologia , Meningioma/patologia , México/epidemiologia , Gradação de Tumores , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: The aim of this work was to evaluate a pediatric ependymoma protein expression that may be useful as a molecular biomarker candidate for prognosis, correlated with clinical features such as age, gender, histopathological grade, ependymal tumor recurrence and patient survival. PATIENTS AND METHODS: Immunohistochemistry assays were performed for GNAO1, ASAH1, IMMT, IPO7, Cyclin D1, P53 and Ki-67 proteins. Kaplan-Meier and Cox analysis were performed for age, gender, histopathological grade, relapse and survival correlation. RESULTS: We found that three proteins correlate with histopathological grade and relapse; two proteins correlate with survival; one protein does not correlate with any clinical feature. CONCLUSION: Our results suggest that, out of the proteins analyzed, five may be considered suitable prognostic biomarkers and one may be considered a predictive biomarker for response to treatment of pediatric ependymoma.
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Ceramidase Ácida/biossíntese , Neoplasias Encefálicas/metabolismo , Ependimoma/metabolismo , Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/biossíntese , Carioferinas/biossíntese , Proteínas Mitocondriais/biossíntese , Proteínas Musculares/biossíntese , Receptores Citoplasmáticos e Nucleares/biossíntese , Ceramidase Ácida/genética , Adolescente , Biomarcadores Tumorais/biossíntese , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Criança , Pré-Escolar , Estudos de Coortes , Ependimoma/diagnóstico , Ependimoma/genética , Feminino , Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética , Regulação Neoplásica da Expressão Gênica , Humanos , Lactente , Recém-Nascido , Carioferinas/genética , Masculino , Proteínas Mitocondriais/genética , Proteínas Musculares/genética , Prognóstico , Receptores Citoplasmáticos e Nucleares/genética , Fatores de TempoRESUMO
RESUMEN Se denominan lipomas aquellas lesiones benignas, perte necientes al grupo de neoplasias mesenquimatosas compuestas por tejido adiposo con o sin cápsula fibrosa u otros elementos histológicos que determinarán sus características físicas. Dentro de las neoplasias benignas se presentan del 13-20% en cabeza y cuello, reportándose 0.5-5% en cavidad bucal, por lo que se considera poco común en la región maxilofacial, siendo más frecuente después de la quinta década de vida, es raro que se presente en pacientes jóvenes o niños. Es por ello que presentamos el reporte de un caso de lipoma en paciente pediátrico, el cual tratamos en el Servicio de Cirugía Maxilofacial Pediátrica del Hospital de Pediatría «Dr. Silvestre Frenk Freud¼, Centro Médico Siglo XXI.
ABSTRACT Lipomas are benign lesions that belong to the group of mesenchymal neoplasms. Lipomas are composed of fat tissue with or without fibrous capsule or other histological elements that determine the physical characteristics of the lipoma. Within the group of benign neoplasms 13 to 20% occur in the head and neck, and 0.5 to 5% in the oral cavity. The appearance of these neoplasms in the maxillofacial region is uncommon, and seldom occurs in children or young patients, being more frequent over 50 years of age. In this report we present a case of lipoma in a pediatric patient that was treated in the Service of Pediatric Maxillofacial Surgery at the «Dr. Silvestre Frenk Freund¼ Hospital, in the IMSS XXI Century National Medical Center.
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OBJECTIVE: We identify and correlate chromosomal alterations, methylation patterns and gene expression in pediatric pineal germinomas. METHODS: CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with MatLab software, MapViewer, DAVID, GeneCards and Hippie. RESULTS: Amplifications were found in 1q24.2, 1q31.3, 2p11.2, 3p22.2, 7p13, 7p15.2, 8p22, 12p13.2, 14q24.3 y 22q12; and deletions were found in 1q21.2, 9p24.1, 10q11.22, 11q11, 15q11.2 and 17q21.31. In the methylation analysis, we observed 10,428 CpG Islands with a modified methylation status that may affect 11,726 genes. We identified 1260 overexpressed genes and 470 underexpressed genes. The genes RUNDC3A, CDC247, CDCA7L, ASAH1, TRA2A, LPL and NPC2 were altered among the three levels. CONCLUSIONS: We identified the 1q24.2 and 1q31.3 amplified regions and the 1q21.3 and 11q11 deleted regions as the most important aims. The genes NPC2 and ASAH1 may play an important role in the development, progression and tumor maintenance. The ASAH1 gene is an ideal candidate to identify drug responses. These genomic and epigenetic studies may help to characterize the formation of pineal germ cell tumors to determine prognostic markers and also to identify shared characteristics in gonadal and extragonadal tumors.
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Neoplasias Encefálicas/genética , Epigênese Genética/genética , Genômica/métodos , Germinoma/genética , Glândula Pineal/patologia , Adolescente , Criança , Pré-Escolar , Metilação de DNA , Expressão Gênica , Humanos , LactenteRESUMO
OBJECTIVE: We identify chromosomal alterations, the methylation pattern and gene expression changes in pediatric ependymomas. METHODS: CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with the software MatLab, MapViewer, DAVID, GeneCards and Hippie. RESULTS: Amplification was found in 14q32.33, 2p22.3 and 8p22, and deletion was found in 8p11.23-p11.22 and 1q21.3. We observed 42.387 CpG islands with changes in their methylation pattern, in which we found 272 genes involved in signaling pathways related to carcinogenesis. We found 481 genes with altered expression. The genes IMMT, JHDMD1D, ASAH1, ZWINT, IPO7, GNAO1 and CISD3 were found to be altered among the three levels. CONCLUSION: The 2p22.3, 8p11.23-p11.22 and 14q32.33 regions were identified as the most important; the changes in the methylation pattern related to cell cycle and cancer genes occurred in MIB2, FGF18 and ITIH5. The IPO7, GNAO1 and ASAH1 genes may play a major role in ependymoma development.
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Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Ependimoma/diagnóstico , Ependimoma/genética , Epigênese Genética/genética , Genômica/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , MasculinoRESUMO
BACKGROUND: Neuroblastoma (NB) is the principal tumor of the sympathetic nervous system in children. OBJECTIVE: to describe the epidemiological and clinical characteristics of Mexican children with NB. METHODS: A population-based, prolective study, with data obtained from the Childhood Cancer Registry of the Instituto Mexicano del Seguro Social. The frequencies and incidence of the variables of the study were obtained by age and sex. The trend was calculated with the annual percentage of change. RESULTS: Of a total of 2758 children with cancer, 72 (2.6%) were identified in the Group IV, according to the International Classification of Childhood Cancer. The average incidence for NB was 3.8, the highest incidence was found in Guerrero. NB was highest in the group under one year of age (18.5). The male/female ratio was 1.1 and there was no trend toward an increase. Stages III and IV were presented in 88% of the cases. There was no association between the stages, the age at the TD, or the histological pattern. CONCLUSIONS: It is possible that the low incidence of NB in Mexican children is due to the difficulty in early diagnosis due the majority of the cases was diagnosed in the advanced stages.
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Neuroblastoma/epidemiologia , Adolescente , Criança , Feminino , Instalações de Saúde , Humanos , Incidência , Masculino , México/epidemiologia , Estudos Prospectivos , Previdência SocialRESUMO
BACKGROUND: Neuroblastoma (NB) is the principal tumor of the sympathetic nervous system in children under one year of age. The incidence in developed countries is greater than that in developing countries. The aim of this article is to present the epidemiological and some clinical characteristics of Mexican children with NB. METHODS: A population-based, prolective study, with data obtained from the Childhood Cancer Registry of the Instituto Mexicano de Seguro Social. STATISTICAL ANALYSIS: The simple frequencies of the variables of the study and the annual average incidence (per 1,000,000 children/years) by age and sex were obtained. The trend was evaluated by calculating the annual percentage of change. The curves of Kaplan-Meyer were employed for the survival rate and the log-rank test was used to compare the curves. RESULTS: Of a total of 2,758 children with cancer registered during the period from 1996-2005, 72 (2.6%) were identified as having Group IV, defined according to the International Classification of Childhood Cancer. The incidence for NB was 3.8 per 1,000,000 children/year; NB was highest in the group of children under one year of age, followed by the group of children between the ages 1-4 years (18.5 and 5.4 per 1,000,000 children/years, respectively). The male/female ratio was 1.1 and there was no trend toward an increase. The time of diagnosis was 26 days (median), but varied according to the stage at diagnosis. Stages III and IV were presented in 88% of the cases. There was no association between the stage, the age at time of diagnosis, or the histological pattern. The overall five-year survival rate was 64%; the patients with stage I, II, III, or IVs did not die; and the five-year survival rate of cases in Stage IV was 40%. CONCLUSION: It is possible that the low incidence of neuroblastoma in Mexican children is due to the difficulty in diagnosing the cases with the best prognosis, some of which could have had spontaneous regression. There was no trend to an increase; the majority of the cases were diagnosed in the advanced stages; and the overall five-years survival rate was similar to that for developed countries.
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Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiologia , Neuroblastoma/diagnóstico , Neuroblastoma/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , México , Indução de Remissão , Fatores de Tempo , Resultado do TratamentoRESUMO
Presentamos los hallazgos clínicos y de imagen encontrados en una niña de 9 años de edad, con diagnóstico comprobado de Sarcoma Embrionario Indiferenciado de Hígado (SEI); el objetivo de este trabajo es mostrar principalmente las imágenes del Ultrasonido (US) y Tomografía Computada (TC), su correlación anatomopatológica y una revisión de la literatura. Concluimos que desde el punto de vista de Imagen exísten datos característicos del SEI como la discrepancia entre la apariencia interna predominantemente sólida observada en US y predominantemente quística encontrada en TC. Esta discrepancia puede ser de utilidad en el diagnóstico diferencial de tumores hepáticos primarios en niños.
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Humanos , Feminino , Sarcoma , Carcinoma Embrionário , Neoplasias Hepáticas , Tomografia Computadorizada por Raios X , Diagnóstico por Imagem/métodosRESUMO
La enfermedad de Wilson (EW) es una alteración autosómica recesiva del metabolismo del cobre, fue descrita en 1912 por Kinnear Wilson como un trastorno degenerativo del sistema nervioso central asociado a cirrosis. El análisis genético ha localizado el defecto en el cromosoma 13. Caso clínico: mujer de 15 años con antecedente de ocho meses de amenorrea . Inició su padecimiento final un mes antes de su fallecimiento con acolia y hepatoesplenomegalia que evolucionó a insufuciencia hepática grave. El panel viral para hepatitis A, B, C y CMV fue negativo. La cuantificación de cobre en tejido hepático postmortem mediante el método de espectroscopia de absorción atómica de horno de grafito, fue de 250.57 µg/g. La microscopia electrónica mostró depósitos densos en las mitocondrias. Los pacientes adolescentes frecuentemente desarrollan insuficiencia hepática como primera manifestación de la enfermedad, histológicamente hay algunos cambios que ayudan al patólogo a sospechar la enfermedad como son la presencia de núcleos desnudos glucogenizados, esteatosis microvesicular, cuerpos de Mallory, regeneración de hepaticitos, sin embargo, es la disminución intensa de ceruloplasmina en suero, la cuantificación tisular de tejido hepático, la microscopia electrónica y más recientemente las alteraciones genéticas o biología molecular lo que da el diagnóstico definitivo.
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Humanos , Adolescente , Feminino , Hepatite Crônica , Degeneração Hepatolenticular , Cirrose Hepática , Cobre , Insuficiência HepáticaRESUMO
Se presenta el caso de un niño de 12 años de edad, con displasia quística del testículo, una rara malformación congénita. La lesión consiste en múltiples espacios quísticos que afectan al mediastino (retetestis) y parénquima testicular con crecimiento y atrofia del parénquima. En una revisión de la literatura sólo encontramos siete casos reportados
