RESUMO
The current study investigated the presence, frequency, and status of somatic hypermutations as well as their role in children with B lineage ALL. The obtained sequences were analyzed using IMGT/V-QUEST. Totally, 150 IGH sequences were evaluated; 139 from the 111 patients at the time of diagnosis and 11 from 8/111 patients at the time of relapse. The findings of the current report revealed the presence of somatically mutated V genes in childhood B lineage ALL. A higher frequency of somatic hypermutations was noted in unproductive rearrangements and was generally attributed to nucleotide mutation type, region, and IGHV gene subgroup biases.
Assuntos
Rearranjo Gênico do Linfócito B , Genes de Imunoglobulinas , Região Variável de Imunoglobulina/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Hipermutação Somática de Imunoglobulina , Biópsia , Exame de Medula Óssea , Análise Mutacional de DNA , Grécia , Humanos , RecidivaRESUMO
FLT3 mutations are occasionally observed in acute lymphoblastic leukemia (ALL). These most frequently manifest as internal tandem duplications (ITD) and activation loop (AL) mutations. This study investigated the incidence of FLT3 mutations in 86 pediatric patients diagnosed with ALL and the co-presence of common RAS mutations. A 2.3% (2/86) FLT3/AL mutation rate in terms of total ALL cases and a 22% (2/9) incidence in hyperdiploid cases was observed. This is in accordance to previous studies indicating a higher incidence in the patient subgroup associated with hyperdiploidy.
Assuntos
Mutação/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Tirosina Quinase 3 Semelhante a fms/genética , Criança , Humanos , Incidência , Poliploidia , PrognósticoRESUMO
In order to investigate the possible role of fiber in the etiology of acute appendicitis, 203 consecutive appendectomized children with histologically proved appendicitis and 1922 controls were studied by the diet history method. Statistics were performed by multivariate analysis of variance, discriminant analysis and chi 2. Appendectomized children had statistically significant lower mean daily intake of fiber (17.4 g versus 20.4 g, P < 0.001) including all fiber fractions: cellulose, uronic acid, pentose, exose and lignin. No statistical difference was found for energy, protein, carbohydrate and fat intake. Discriminant analysis proved that only cellulose and exose are independently correlated to appendicitis and lower fiber intake is thought to be the cause in 70% of the cases. Recurrent abdominal pain, chronic constipation and positive family history of appendectomy were more frequent in appendectomized children (P < 0.001). This study gives evidence that low fiber intake could play an important role in the pathogenesis of appendicitis.