Liquid biopsy: Novel perspectives on the importance and spectrum of <em>PIK3CA, PTEN</em> and <em>RET</em> mutations in solid tumors

Sahin,Ibrahim; Saat,Hanife; Aksoy,Sercan; Dizdar,Omer; Erdem,Haktan Bagis; Bahsi,Taha

doi:10.3892/mco.2021.2434

Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumors

Authors:
- Ibrahim Sahin
- Hanife Saat
- Sercan Aksoy
- Omer Dizdar
- Haktan Bagis Erdem
- Taha Bahsi
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Affiliations: Department of Medical Genetics, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, 06110 Ankara, Turkey, Department of Medical Genetics, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospita, 06110 Ankara, Turkey, Department of Medical Oncology, Hacettepe University Cancer Institute, 06590 Ankara, Turkey, Department of Medical Genetics, University of Health Sciences, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, 06105 Ankara, Turkey
Published online on: November 3, 2021 https://doi.org/10.3892/mco.2021.2434
Article Number: 1
Copyright: © Sahin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Many people die from lung and breast cancer. Consequently, both physicians and researchers strive to provide reliable monitoring for disease, diagnosis and prognosis as well as resistance prediction. In the present study, a comprehensive liquid biopsy panel was performed on 474 patients to examine the importance and spectrum of recurrent somatic cancer mutations. Most patients visited the clinic with a diagnosis of advanced resistant cancer. The patients underwent a comprehensive liquid biopsy panel. Patients were divided into four groups based on cancer type as follows: Lung (n=379, 79.9%), breast (n=72, 15.2%), gastrointestinal (n=11, 2.3%) and other (n=12, 2.5%). Tier I‑II‑III classified variants were included in the study. The mean age was 60 years, with a range of 20‑86 years. There were notably more male (n=272, 57.4%) than female patients (n=202, 42.6%). The most commonly mutated genes were TP53, EGFR, PIK3CA, RET, PTEN, MET, ATM and KRAS. The most common mutations were ‘PIK3CA, c.3140A>G, p.His1047Arg’, ‘RET, c.2324delinsGAC, p.Glu775Glyfs*6’, ‘TP53, c.217G>C, p.Val73Leu’, ‘EGFR, c.2155G>A, p.Gly719Ser’, ‘PIK3CA, c.1624G>A, p.Glu542Lys’, ‘PTEN, c.397G>A, p.Val133Ile’ and ‘EGFR, c.2235_2249del, p.Glu746_Ala750del’. The PIK3CA, PTEN and RET variants showed a higher incidence in the breast and lung groups compared with other groups. To the best of our knowledge, the present study is the first to concentrate on PIK3CA, PTEN and RET mutations in the context of breast and lung adenocarcinoma and to evaluate both genetic variability and the effect of treatment. The present results showed that patients with solid tumors, particularly lung and breast cancer, may benefit from PIK3CA, PTEN and RET sequencing to assess clinical characteristics and prognosis. Discoveries regarding the gene structure and mechanisms of PIK3CA, PTEN and RET may inform more clinically meaningful therapeutic approaches for patients with cancer and serve an essential role in improving individual risk prediction, therapy and prognosis.

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