RESUMEN
To investigate the possible role of GATA3 rs3824662 polymorphism as risk factor for the development of acute lymphoblastic leukemia (ALL) in a cohort of Egyptian children and to evaluate its prognostic role. Typing of GATA3 rs3824662 polymorphism was done using real-time PCR for 116 patients with ALL and 273 healthy controls. The A allele and AA genotype were significantly higher in ALL patients (p = .015 and .016, respectively) especially B-ALL (p = .014 and .01, respectively). The AA genotype was associated with shorter disease free survival (DFS) in univariate (p = .017) and multivariate cox regression analysis (p = .028), increased incidence of relapse (p = .008) and poor prognosis (p = .028) in pediatric ALL. The GATA3 rs3824662 A allele and AA genotype may be risk factors for the development of pediatric ALL especially B-ALL in the studied cohort of Egyptian patients. The AA genotype is associated with shorter DSF, increased incidence of relapse and poor prognosis in pediatric ALL.
Asunto(s)
Factor de Transcripción GATA3/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Alelos , Biomarcadores , Estudios de Casos y Controles , Niño , Preescolar , Egipto , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Inmunofenotipificación , Masculino , Oportunidad Relativa , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pronóstico , Modelos de Riesgos Proporcionales , Factores de RiesgoRESUMEN
Neuroblastoma, an embryonal malignancy of the sympathetic nervous system, is the most frequent extracranial solid tumor The clinico-epidemiological features of neuroblastoma in infants and children were investigated between January 2005 and January 2010 at the Pediatric Oncology units of Mansoura, Zagazig, and Tanta University Children's Hospitals (Egypt). Of 142 cases of neuroblastoma, 10 were omitted from the study due to defective data. The median age of the patients was 30 months, with 75.8% aged ≥1 year and 24.2% aged <1 year at time of diagnosis. The male-to-female ratio was 1.06. Suprarenal glands were the most common primary tumor site (72.7%). The majority of the patients (76.7%) had stage IV disease. Favorable pathology was observed in 43.8% of patients, while 56.2% exhibited unfavorable pathology. The estimated survival rate of patients was 30.7±10.0%, and mean survival time was 24.2±5.2 months. The rate of mortality was 28.6% for patients aged <1 year, and 81.8% for those aged ≥1 year (P=0.005). For patients with favorable pathology, the rate of mortality was significantly lower (28.6%) compared with that of patients with unfavorable pathology (77.8%; P=0.049). Although the association between outcome and each of the primary tumor sites, children's oncology group risk and gender was statistically insignificant, a large effect size was identified between outcome and primary tumor site, as well as children's oncology group risk and a medium effect size was identified between outcome and gender. Additionally, an age of ≥1 year was associated with unfavorable pathology (P=0.024), stage IV disease (P=0.026) and a suprarenal primary tumor site (P=0.001).
RESUMEN
This case-control study was planned to investigate the possible role of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms as a risk factor for the development of acute lymphoblastic leukemia (ALL) in a cohort of Egyptian children. Typing of MTHFR C677T and A1298C polymorphisms was done using restriction fragment length polymorphism (RFLP) for 100 children with ALL and 100 age- and sex-matched healthy controls. No significant differences were found between patients with ALL and controls for the frequency of MTHFR C677T and A1298C alleles, genotypes, combined genotypes or haplotypes. The C677T and A1298C genotype frequency was different from that in Korean and Chinese populations (p < 0.5) and was similar to that in British, French-Canadian and German-Caucasian populations (p > 0.5). Our findings suggest that MTHFR C677T and A1298C polymorphisms are unlikely to affect the development of childhood ALL in an Egyptian population from Delta.
Asunto(s)
Predisposición Genética a la Enfermedad , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Factores de Edad , Alelos , Sustitución de Aminoácidos , Estudios de Casos y Controles , Niño , Preescolar , Codón , Egipto , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Humanos , Lactante , Desequilibrio de Ligamiento , Masculino , Oportunidad Relativa , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnósticoRESUMEN
OBJECTIVE: Compare apparent diffusion coefficient (ADC) values between benign and malignant mass lesions in a cohort of children referred for imaging of a mediastinal mass. MATERIAL AND METHODS: Prospective study including 24 consecutive children (11 boys, 13 girls aged 5 months to 16 years). All underwent echo planar diffusion weighted MR imaging of the mediastinum with b-factors of 0 and 600 s/mm(2). Apparent diffusion coefficient (ADC) values were calculated and correlated with the surgical finding or biopsy. RESULTS: The mean ADC value of malignant mediastinal tumors was 0.91 (S.D., 0.17) × 10(-3) mm(2)/s and of benign lesions 1.8 (S.D., 0.33) × 10(-3) mm(2)/s. There was significant different in the ADC value between malignant tumors and benign mediastinal tumors (P<0.001). Selection of 1.2 × 10(-3) mm(2)/s as a threshold value for differentiating malignant from benign mediastinal masses has an accuracy of 93%, sensitivity of 92%, specificity of 94%, positive predictive value of 94%, negative predictive value of 92% and area under the curve of 0.962. CONCLUSION: Apparent diffusion coefficient value is a promising non-invasive parameter for assessment of mediastinal mass in children.