Background
Cell-free DNA (cfDNA) has the potential to serve as a non-invasive prognostic biomarker in some types of neoplasia. The investigation of plasma concentration of cfDNA may reveal its use as a valuable biomarker for risk stratification of diffuse large B-cell lymphoma (DLBCL). The present prognostic value of plasma cfDNA has not been widely confirmed in DLBCL subjects. Here, we evaluated cfDNA plasma concentration and assessed its potential prognostic value as an early DLBCL diagnostic tool.
Methods
cfDNA concentrations in plasma samples from 40 patients with DLBCL during diagnosis and of 38 normal controls were determined with quantitative polymerase chain reaction (qPCR) for the multi-locus
L1PA2
gene.
Results
Statistically significant elevation in plasma cfDNA concentrations was observed in patients with DLBCL as compared to that in normal controls (
P
<0.05). A cutoff point of 2.071 ng/mL provided 82.5% sensitivity and 62.8% specificity and allowed successful discrimination of patients with DLBCL from normal controls (area under the curve=0.777;
P
=0.00003). Furthermore, patients with DLBCL showing higher concentrations of cfDNA had shorter overall survival (median, 9 mo;
P
=0.022) than those with lower cfDNA levels. In addition, elevated cfDNA concentration was significantly associated with age, B-symptoms, International Prognostic Index (IPI) score, and different stages of disease (all
P
<0.05).
Conclusion
Quantification of cfDNA with qPCR at the time of diagnosis may allow identification of patients with high cfDNA concentration, which correlates with aggressive clinical outcomes and adverse prognosis.
SYCP3 (Sinaptonemal complex protein 3) plays a critical role in pairing and recombination of homologous chromosomes in meiosis 1. It has been shown that lack of this gene leads to infertility in male and weakened fertility in female mice. In a case-control study, we investigated the SYCP3T657C polymorphism in the genome of 100 Iranian women with recurrent pregnancy losses of unknown causes as well as 100 control samples of normal fertile women having at least one healthy child. The general aim of our study was to determine whether there is a relationship between genetic changes in the SYCP3 gene and recurrent pregnancy loss in human or not. Frequency of the heterozygous genotype and mutated allele C were significantly higher in women with recurrent pregnancy losses (P-value<0.005). Our findings suggest that the T657C polymorphism of the SYCP3 gene is possibly associated with recurrent pregnancy loss of unknown cause in human.
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