Association between TMPRSS2:ERG fusion gene and the prostate cancer: systematic review and meta-analysis

To identify the association between the TMPRSS2:ERG fusion gene, their variants and the onset of localized prostate cancer.

A systematic search strategy was carried out through MEDLINE, EMBASE, LILACS, CENTRAL and unpublished literature. We included randomized control trials, cohort, case-control and cross-sectional studies that involved patients >18 years-old assessing the association between TMPRSS2 fusion gene, its single nucleotide polymorphisms and prostate cancer. The primary outcome was prostate cancer defined by histology of the tumor coming from transrectal ultrasound guided biopsy, transurethral resection of the prostate or radical prostatectomy. We assessed the risk of bias with QUADAS2 and performed a meta-analysis with Stata 14.

We found 241 records with the search strategies. After duplicates were removed, 18 studies were included in qualitative analysis and 15 studies in meta-analysis. All included studies that had no applicability concerns and low risk of bias for flow and timing. Nine studies had an unclear risk of bias for index and reference tests, since they did not describe the blinding assessment appropriately. Regarding the association between TMPRSS2:ERG and prostate cancer, we found an odds ratio (OR) 2.24 and a 95% confidence interval (CI) (1.29 to 3.91). Regarding the kind of sample, urine showed an OR 2.79 and a 95% CI (1.12 to 6.98) and when using a DNA molecular template, the OR was 3.55 with a 95% CI (1.08 to 11.65).

There was an association between TMPRSS2:ERG fusion gene with the diagnosis of prostate cancer, mainly in urine samples and DNA-based molecular templates. TMPRSS2:ERG might be used as the gold standard biomarker for diagnosis and stratification of PCa.