PTEN gene mutations in malignant tumours – a systematic review and clinical implications for tumour treatment

Abstract

Introduction: The PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene is one of the most common- ly mutated suppressor genes in malignant tumours. PTEN protein counteracts the process of carcinogenesis by inhibition of many kinases promoting cell proliferation. Aim of the research: A review and analysis of detected PTEN gene mutations in malignant tumours and identification of the most commonly mutated sites in the PTEN gene. Material and methods: The systematic review included 70 publications. Results: Mutations in the PTEN gene were found in 18% of cases. The largest number of mutations were observed in endo- metrial cancer – 49% of examined patients. Mutations most frequently occurred in exon 5 (49% of examined cases), followed by exon 8 (15% of cases) and exon 7 (13% of cases). Conclusions: The identification of mutations in the PTEN gene in malignant tumours is of great clinical importance – tar- geted treatment with temsirolimus and everolimus is available for patients. Streszczenie