Abstract
Wilms tumor is one of the most common pediatric solid tumors. The pair-like homeobox 2b (PHOX2B) gene is an important transcription factor that regulates cellular proliferation and differentiation in early life. The association between PHOX2B single nucleotide polymorphisms (SNPs) and Wilms tumor risk has not been investigated. Therefore, we conducted a case-control study involving 145 Wilms tumor patients and 531 controls to explore the association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility. The association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility was assessed by odds ratios (ORs) and 95% confidence intervals (CIs). Our results indicated that PHOX2B rs28647582 T>C polymorphism did not significantly alter Wilms tumor susceptibility. However, in the stratified analysis, we found that TC/CC genotypes significantly increased Wilms tumor risk among children older than 18 months (adjusted OR = 1.77, 95% CI = 1.07–2.95, P=0.027) and those with clinical stages III+IV (adjusted OR = 1.75, 95% CI = 1.09–2.82, P=0.022), when compared with those with TT genotype. Our study suggested that PHOX2B rs28647582 T>C was weakly associated with Wilms tumor susceptibility. Our conclusions need further validation with a larger sample size.
Highlights
Wilms tumor, known as nephroblastoma, is one of the most common pediatric malignant tumors, accounting for 7–8% of tumors in childhood [1,2]
pair-like homeobox 2b (PHOX2B) mutations were observed in congenital central hypoventilation syndrome, neuroblastoma and Hirschsprung disease [36,37]
Subsequent studies confirmed that polyalanine repeat expansion mutation (PARMs) in exon 3 increased the risk of congenital central hypoventilation syndrome [38,39]
Summary
Known as nephroblastoma, is one of the most common pediatric malignant tumors, accounting for 7–8% of tumors in childhood [1,2]. Survival rate of Wilms tumor once was less than 30%. Benefitting by the combined utilization of surgery, chemotherapy, radiotherapy and other treatment methods, 90% of Wilms tumors patients can be cured nowadays [4]. Approximately 25% of Wilms tumor patients still have a poor survival rate of less than 70%, which results from unfavorable histopathological types [2]. Even though these patients survive, they have a high recurrence rate and suffer from chronic health problems. The more frequently accepted theory is that posterior renal blastocyst fail to differentiate into glomeruli and renal tubules [5]. It is necessary to explore genetic etiology of Wilms tumor to provide theoretical basis for its prediction and treatment
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