Abstract

TMPRSS2:ERG gene fusions in prostate cancer have a dominant prevalence of approximately 50.0%, but infomration is limited on differences among ethnic and geographical groups. Some studies focusing on Japanese and Korean patients reported a lower incidence. Investigations concerning Chinese revealed controversial results. We evaluated TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions in more than 100 Eastern Chinese prostate cancer patients. Paraffin blocks of needle biopsy and radical prostatectomy were collected from 91 and 18 patients respectively. All patients' clinicopathologic factors were gathered. TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions were tested by multi-probe fluorescence in situ hybridization (FISH) assay. TMPRSS2:ERG fusions was present in 14.3% biopsy specimens and 11.1% radical prostatectomy patients. Neither TMPRSS2:ETV1 nor TMPRSS2:ETV4 fusion was found in any case. Altogether, 13 (86.7%) TMPRSS2:ERG fusion positive cases possessed deletion pattern and 7 (46.6%) and insertion pattern. Some 5 cases had both deletion and insertion patterns. While 38.5% (5/13) patients with deletion pattern had distant metastasis, except for one metastatic case harboring both deletion and insertion, there were no patients with insertion pattern accompanied with metastasis. There were no differences between fusion positive and negative cases in the distribution of age, PSA, Gleason score and TNM stage. Eastern Chinese prostate cancer patients have a significantly low incidence of TMPRSS2:ERG fusion. They also lack TMPRSS2:ETV1 and TMPRSS2:ETV4 fusion. There are more deletion pattern than insertion pattern in TMPRSS2:ERG positive cases. Fusion positive and negative patients have no clinicopathologic factor differences.

Highlights

  • Since first observed gene fusions in prostate cancer of androgen-regulated trans-membrane-serine protease gene (TMPRSS2) and erythroblast transformation-specific (ETS) family members (Tomlins et al, 2005), much progress has been made in the understanding of fusion mechanism, and in the transferring to clinical practice

  • TMPRSS2:ERG gene fusions in prostate cancer have a dominant prevalence of approximately 50.0%, but infomration is limited on differences among ethnic and geographical groups

  • An observation was published that 83% of castration-independent prostate cancer patients with TMPRSS2:ERG fusion had a decrease in PSA following treatment of Abiraterone (Attard et al, 2008)

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Summary

Introduction

Since first observed gene fusions in prostate cancer of androgen-regulated trans-membrane-serine protease gene (TMPRSS2) and erythroblast transformation-specific (ETS) family members (Tomlins et al, 2005), much progress has been made in the understanding of fusion mechanism, and in the transferring to clinical practice. An observation was published that 83% of castration-independent prostate cancer patients with TMPRSS2:ERG fusion had a decrease in PSA following treatment of Abiraterone (Attard et al, 2008). TMPRSS2: ERG fusion has a dominant prevalence of approximately 50%, compared with other fusion type less than 15% incidence. Some studies focusing only on Asian people revealed a prevalence of TMPRSS2:ERG differed from these reports mainly concerned patients of western countries (Lee et al, 2010; Miyagi et al, 2010; Rawal et al, 2013). Considering the prostate cancer prevalence and aggressiveness, as well as genomic alterations, vary in different ethnic origin and geographic locations (Grönberg et al, 2003; Sim et al, 2005), it is necessary to figure out the prevalence of fusion between TMPRSS2 and ETS family members in prostate cancers patients from eastern China and to explore differences in fusion rates in Different areas of China, other parts of Asia, Europe, and USA

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