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

Magdalena Kołomańska; Łukasz Nawacki; Łukasz Madej; Jarosław Matykiewicz; Aldona Kubala-Kukuś; Stanisław Głuszek

doi:10.5114/ms.2022.122392

eISSN: 2300-6722
ISSN: 1899-1874

Medical Studies/Studia Medyczne

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abstract:

Review paper

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

Magdalena M. Kołomańska

¹

,

Łukasz Nawacki

¹

,

Łukasz Madej

¹

,

Jarosław Matykiewicz

^{1, 2}

,

Aldona Kubala-Kukuś

^{3, 2}

,

Stanisław Głuszek

^{1, 2}

Collegium Medicum, Jan Kochanowski University, Kielce, Poland Head of the Collegium: Prof. Marianna Janion MD PhD
Kielce Province Cancer Centre, Kielce, Poland Head of the Centre: Prof. Stanisław Góźdż MD, PhD
Institute of Physics, Jan Kochanowski University, Kielce, Poland Head of the Institute: Prof. Marek Pajek

Medical Studies/Studia Medyczne 2022; 38 (4): 336–350

DOI: https://doi.org/10.5114/ms.2022.122392

Online publish date: 2022/12/16

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Introduction
The PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene is one of the most commonly 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 endometrial 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 – targeted treatment with temsirolimus and everolimus is available for patients.

keywords:

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

Magdalena M. Kołomańska 1 , Łukasz Nawacki 1 , Łukasz Madej 1 , Jarosław Matykiewicz 1, 2 , Aldona Kubala-Kukuś 3, 2 , Stanisław Głuszek 1, 2

carcinogenesis, PTEN mutation, MMAC-1 mutation, TEP-1 mutation, cancer genetics

Magdalena M. Kołomańska

¹

,

Łukasz Nawacki

¹

,

Łukasz Madej

¹

,

Jarosław Matykiewicz

^{1, 2}

,

Aldona Kubala-Kukuś

^{3, 2}

,

Stanisław Głuszek

^{1, 2}