The Mutational and Transcriptional Landscapes of Speckle-Type POZ Protein (SPOP) and Androgen Receptor (AR) in a Single-Center pT3 Prostatectomy Cohort

Author:

Eryilmaz Isil Ezgi,Vuruskan Berna Aytac,Kaygisiz Onur,Cecener Gulsah,Egeli Unal,Vuruskan Hakan

Abstract

Prostate cancer (PCa) is a heterogeneous disease both clinically and genetically. According to The Cancer Genome Atlas (TCGA), the speckle‑type POZ protein (<i>SPOP</i>) mutant form is one of the significant core subtypes of PCa. However, the prognostic value of <i>SPOP</i> variations remains unknown. As a critical PCa driver and an SPOP-targeted protein, androgen receptor (AR) also plays a role in PCa initiation and progression. Thus, we aimed to analyze the mutational status of <i>SPOP</i> and <i>AR</i> with their transcriptional levels in a pathological stage 3 (pT3) prostatectomy cohort consisting of 89 Turkish PCa patients. Targeted sequence analysis and RT-qPCR were performed for <i>SPOP</i> and <i>AR</i> in the benign and malign prostate tissue samples. Our results introduced the two novel pathogenic <i>SPOP</i> variations, C203Y and S236R, in the BTB/POZ domain and a novel pathogenic variant in the ligand-binding domain of <i>AR</i>, R789W. Their predicted pathogenicities and effects on protein features were evaluated by web-based <i>in silico</i> analysis. The overall frequency of <i>SPOP</i> and <i>AR</i> variations for pT3 patients in our population was 3.4&#37; (3/89) and 4.5&#37; (4/89), respectively. The mutational results represented a possible subgroup characterized by carrying the novel variants in <i>SPOP</i> and <i>AR</i> in pT3 PCa patients. In addition to the significant clinicopathological parameters, the mutational results provide a better understanding of the molecular structure of pathologically advanced PCa in the <i>SPOP</i> and <i>AR</i> aspects.

Publisher

Begell House

Subject

Health, Toxicology and Mutagenesis,Toxicology,General Medicine,Pathology and Forensic Medicine

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