RESUMO
OBJECTIVE: Acute Lymphoblastic Leukemia (ALL) is the most common malignancy occurring in children. Copy number alterations (CNA) like PAX5, CDKN2A/2B, PAR1 Region, ETV6, IKZF1, BTG1, and RB1 gene deletion are important genetic events that define and prognosticate B-cell ALL. Thus, this study aimed to evaluate associations of CNA with induction phase remission status in childhood B-cell ALL. METHODS: This study was observational with a cross-sectional design at the Dharmais Cancer Hospital, Harapan Kita Mother and Children Hospital, and Tangerang Regional Public Hospital. We evaluated 74 pediatric B-cell ALL cases with 1-18-year-olds. Genomic DNA was analyzed by Multiplex Ligation Dependent Probe Amplification Assay (MLPA). This study used the P335 ALL-IKZF1 panel kit, which contains several ALL-related genes. The patient's clinical and laboratory characteristics were collected from medical records from January to December 2019. RESULT: We observed gene copy number alteration in children with B-Cell ALL. PAX5 was the most commonly observed gene deletion, followed by CDKN21/2B, ETV6, IKZF1, BTG1, RB1, and PAR1 Region. Based on gene mutations, only the PAX5 had a significant association with the remission status of pediatric B-cell ALL (p-value <0.05; OR = 3.91). It showed that patients with PAX5 gene mutations have 3.9 times the risk of no remission and/or relapse compared to those without PAX5 gene mutations. CONCLUSION: Patients with mutations in the PAX5 gene have a higher chance of not achieving remission and/or experiencing relapse than those without such mutations. The MLPA method can be utilized for examining copy number alterations, which is valuable for achieving more precise stratification in diagnosis.. Further research is needed to expand upon this finding.
Assuntos
Variações do Número de Cópias de DNA , Reação em Cadeia da Polimerase Multiplex , Leucemia-Linfoma Linfoblástico de Células Precursoras B , Indução de Remissão , Humanos , Criança , Feminino , Masculino , Pré-Escolar , Adolescente , Prognóstico , Lactente , Estudos Transversais , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Fator de Transcrição PAX5/genética , Fator de Transcrição Ikaros/genética , Seguimentos , Biomarcadores Tumorais/genética , Ubiquitina-Proteína Ligases/genética , Inibidor de Quinase Dependente de Ciclina p15/genética , Proteínas de Ligação a Retinoblastoma/genética , Proteínas de NeoplasiasRESUMO
BACKGROUND: Measurement of viral load in human immunodeficiency virus type 1 (HIV-1) infected patients is essential for the establishment of a therapeutic strategy. Several assays based on qPCR are available for the measurement of viral load; they differ in sample volume, technology applied, target gene, sensitivity and dynamic range. The Bioneer AccuPower® HIV-1 Quantitative RT-PCR is a novel commercial kit that has not been evaluated for its performance. OBJECTIVE: This study aimed to evaluate the performance of the Bioneer AccuPower® HIV-1 Quantitative RT-PCR kit. METHODS: In total, 288 EDTA plasma samples from the Dharmais Cancer Hospital were analyzed with the Bioneer AccuPower® HIV-1 Quantitative RT-PCR kit and the Roche COBAS® AmpliPrep/COBAS® TaqMan® HIV-1 version 2.0 (CAP/CTM v2.0). The performance of the Bioneer assay was then evaluated against the Roche CAP/CTM v2.0. RESULTS: Overall, there was good agreement between the two assays. The Bioneer assay showed significant linear correlation with CAP/CTM v2.0 (R2=0.963, p<0.001) for all samples (N=118) which were quantified by both assays, with high agreement (94.9%, 112/118) according to the Bland-Altman model. The mean difference between the quantitative values measured by Bioneer assay and CAP/CTM v2.0 was 0.11 Log10 IU/mL (SD=0.26). CONCLUSION: Based on these results, the Bioneer assay can be used to quantify HIV-1 RNA in clinical laboratories.