Genetic variation frequencies in Wilms' tumor: A meta‐analysis and systematic review

Abstract

Over the last few decades, numerous biomarkers in Wilms' tumor have been confirmed and shown variations in prevalence. Most of these studies were based on small sample sizes. We carried out a meta‐analysis of the research published from 1992 to 2015 to obtain more precise and comprehensive outcomes for genetic tests. In the present study, 70 out of 5175 published reports were eligible for the meta‐analysis, which was carried out using Stata 12.0 software. Pooled prevalence for gene mutations WT1, WTX, CTNNB1, TP53, MYCN, DROSHA, and DGCR8 was 0.141 (0.104, 0.178), 0.147 (0.110, 0.184), 0.140 (0.100, 0.190), 0.410 (0.214, 0.605), 0.071 (0.041, 0.100), 0.082 (0.048, 0.116), and 0.036 (0.026, 0.046), respectively. Pooled prevalence of loss of heterozygosity at 1p, 11p, 11q, 16q, and 22q was 0.109 (0.084, 0.133), 0.334 (0.295, 0.373), 0.199 (0.146, 0.252), 0.151 (0.129, 0.172), and 0.148 (0.108, 0.189), respectively. Pooled prevalence of 1q and chromosome 12 gain was 0.218 (0.161, 0.275) and 0.273 (0.195, 0.350), respectively. The limited prevalence of currently known genetic alterations in Wilms' tumors indicates that significant drivers of initiation and progression remain to be discovered. Subgroup analyses indicated that ethnicity may be one of the sources of heterogeneity. However, in meta‐regression analyses, no study‐level characteristics of indicators were found to be significant. In addition, the findings of our sensitivity analysis and possible publication bias remind us to interpret results with caution.

The Diagnostic and Therapeutic Approach to a Child Having Simultaneous Renal and Testicular Mass

“…WT is associated with congenital syndromes in 10% of cases, including sporadic aniridia, isolated hemihypertrophy, Denys-Drash syndrome (nephropathy, renal failure, male pseudohermaphroditism, and Wilms' tumor), genital anomalies, Beckwith-Wiedemann syndrome [visceromegaly, macroglossia, omphalocele, and hyperinsulinemic hypoglycemia in infancy and WAGR complex (WT with aniridia, genitourinary malformations, and mental retardation) [15][16]. This suggested a genetic predisposition to this tumor but literature analysis didn't (Table 1) suggested any genetic/ familial predisposition for testicular metastasis.…”

“…It is utmost important to evaluate the genitalia in pediatric patients presenting with renal lump, as there may be syndromic association, (cryptorchidism, pseudohermaphroditism), vericocele (tumor compressing testicular veins) hydrocele (subclinical metastasis having reactive hydrocele ), patent processes vaginalis etc [15][16]. To the best of our search (all languages, both indexed non indexed journal) with the key words testicular metastasis, paratesticular metastasis, metastatic Wilms' tumor in the literature from 1928 to 2016, we found 12 cases of testicular/ paratesticular metastasis of WT [1][2][3][4][5][6][7][8][9][10][11][12].…”

Recent advances in the management of Wilms' tumor

“…Consequently, CTNNB1 and WTX have been identified in tumors. WT1 , CTNNB1 , and WTX genetic alterations are estimated to co-occur in approximately one-third of WTs 34 . Many other genes appear to be implicated, including TP53 and MYNC 34, 35 .…”

“…Based on a recent meta-analysis, the pooled prevalence of WT1, WTX , and CTNNB1 somatic mutation in patients with WT was 0.141 (0.104, 0.178), 0.147 (0.110, 0.184), and 0.140 (0.100, 0.190), respectively 34 . The incidence of WT1 and CTNNB1 combined was 28.1%, and WT1 and WTX combined was 28.8%.…”

Associations between LMO1 gene polymorphisms and Wilms' tumor susceptibility

“…While a substantial proportion of Wilms’ tumor cases are sporadic and unilateral, 1–2% are hereditary [ 14 – 16 ]. Thus, genetic factors may also be involved in the predisposition to and aggressiveness of Wilms’ tumor [ 17 , 18 ].…”