RESUMO
BACKGROUND: Acute lymphoblastic leukemia is the most common malignant cancer in childhood. The signs and symptoms of childhood cancer are difficult to recognize, as it is not the first diagnosis to be considered for nonspecific complaints, leading to potential uncertainty in diagnosis. The aim of this study was to perform proteomic analysis of serum from pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL) to identify candidate biomarker proteins, for use in early diagnosis and evaluation of treatment. METHODS: Serum samples were obtained from ten patients at the time of diagnosis (B-ALL group) and after induction therapy (AIT group). Sera from healthy children were used as controls (Control group). The samples were subjected to immunodepletion, affinity chromatography with α-d-galactose-binding lectin (from Artocarpus incisa seeds) immobilized on a Sepharose(TM) 4B gel, concentration, and digestion for subsequent analysis with nano-UPLC tandem nano-ESI-MS(E). The program Expression (E) was used to quantify differences in protein expression between groups. RESULTS: A total of 96 proteins were identified. Leucine-rich alpha-2-glycoprotein 1 (LRG1), Clusterin (CLU), thrombin (F2), heparin cofactor II (SERPIND1), alpha-2-macroglobulin (A2M), alpha-2-antiplasmin (SERPINF2), Alpha-1 antitrypsin (SERPINA1), Complement factor B (CFB) and Complement C3 (C3) were identified as candidate biomarkers for early diagnosis of B-ALL, as they were upregulated in the B-ALL group relative to the control and AIT groups. Expression levels of the candidate biomarkers did not differ significantly between the AIT and control groups, providing further evidence that the candidate biomarkers are present only in the disease state, as all patients achieved complete remission after treatment. CONCLUSION: A panel of protein biomarker candidates has been developed for pre-diagnosis of B-ALL and also provided information that would indicate a favorable response to treatment after induction therapy.
Assuntos
Hibridização in Situ Fluorescente/métodos , Interfase , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/genética , Bandeamento Cromossômico , Quebra Cromossômica , Análise Citogenética , Genes p53 , Histona-Lisina N-Metiltransferase , Humanos , Interfase/genética , Interfase/fisiologia , Síndromes Mielodisplásicas/patologia , Proteína de Leucina Linfoide-Mieloide/genética , Prognóstico , Proteína do Retinoblastoma/genéticaRESUMO
Introdução: A síndrome de Edwards é polimalformativa decorrente da presença de um cromossomo extra no par 18 como trissomia. Tem mutação baseada em mais de 90% em trissomia livre e a minoria dos casos em mosaicismo e translocação. Métodos: Relato de série de 13 casos confirmados de trissomia 18 em hospital pediátrico terciário em cinco anos. Amostra com maior prevalência do sexo feminino, prematuros limítrofes, baixo peso, nascidos de parto cesáreo e sem diagnóstico pré-natal. Os estigmas genéticos mais registrados foram micrognatia, dedos de mãos superpostos, pés em taco de golfe, orelhas pontiagudas e sopro cardíaco. Todos os pacientes tinham cardiopatia congênita, com predomínio de comunicação interventricular e canal arterial patente. O cariótipo por banda G confirmou trissomia livre em todos os casos. A maioria foi internada em terapia intensiva neonatal e evoluiu para óbito até o terceiro mês de vida. As principais causas de óbitos foram insuficiência cardíaca, hipertensão pulmonar e pneumonia. Conclusão: Os pediatras ainda demonstram baixo grau de suspeição específica da doença e desconhecem o prognóstico reservado.