RESUMO
A novel, easy to perform PCR-based method employing specific DNA methylation biomarkers to detect B-cell neoplasms in a variety of B-cell lines and B lymphoblastic leukemia (B-ALL) patient specimens has been developed. This method detects as few as 5 B-ALL cells, or 1 B-ALL cell in 1,000,000 normal background blood cells using a single marker, DLC-1 gene CpG island (CGI) methylation. By adding two additional markers PCDHGA12 and RPIB9, over 80% of B-ALL cases were detected in patients' bone marrow and/or peripheral blood specimens. We have traced clinical B-ALL cases up to 10 years retrospectively and the DLC-1 methylation is correlated with patient clinical status. Thus, this epigenetic-based molecular method demonstrates its potential use in the diagnosis of B-cell neoplasia, in addition to traditional approach such as clinical features, morphology, immunophenotype, and genetic analysis.
Assuntos
Biomarcadores Tumorais/metabolismo , Metilação de DNA , DNA de Neoplasias/genética , Leucemia de Células B/metabolismo , Linfoma de Células B/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Proteínas de Transporte/genética , Proteínas de Transporte/metabolismo , Linhagem Celular Tumoral , Criança , Pré-Escolar , Feminino , Proteínas Ativadoras de GTPase , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Leucemia de Células B/diagnóstico , Leucemia de Células B/genética , Linfoma de Células B/diagnóstico , Linfoma de Células B/genética , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Estudos Retrospectivos , Sensibilidade e Especificidade , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Adulto JovemRESUMO
Anemia and hepatosplenomegaly are common reasons for referring a child to a pediatric hematologist or oncologist. Among the many causes for these findings is severe rickets, which has been shown to be associated with secondary myelofibrosis and myeloid metaplasia. The authors present the case of an infant with severe rickets and secondary myelofibrosis and review the differential diagnosis of hepatosplenomegaly from the viewpoint of the pediatric hematologist/oncologist.