Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis

Frontiers in Oncology

Oncology

Pei-Ju Lien¹  Yen-Shu Lin¹  Chin-Jung Feng¹  Chi-Cheng Huang²  Jiun-I. Lai³  Ta-Chung Chao⁴  Yen-Jen Chen⁵  Yi-Fang Tsai⁵  Ling-Ming Tseng⁵  Chun-Yu Liu⁶  Jiun Jen Lynn⁷  Chih-Yi Hsu⁸ 

[1] Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan;Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Division of Medical Oncology, Department of Oncology, Taipei Veterans General Hospital, Taipei, Taiwan;Institute of Clinical Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;School of Medicine, College of Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan;Division of Cancer Prevention, Department of Oncology, Taipei Veterans General Hospital, Taipei, Taiwan;Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;School of Medicine, College of Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan;Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Comprehensive Breast Health Center, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;School of Medicine, College of Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan;Division of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan;Medical Affairs, Novartis (Taiwan) Co. Ltd, Taipei, Taiwan;School of Medicine, College of Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan;Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan;

关键词: advanced breast cancer;    PIK3CA;    hotspot mutations;    next-generation sequencing;    Taiwanese population;   

DOI  :  10.3389/fonc.2023.1192946

 received in 2023-03-24, accepted in 2023-07-25,  发布年份 2023

来源: Frontiers

【 摘 要 】

BackgroundBreast cancer is the most common cancer type that affects women. In hormone receptor–positive (HR+), human epidermal growth factor receptor 2−negative (HER2–) advanced breast cancer (ABC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the most frequently mutated gene associated with poor prognosis. This study evaluated the frequency of PIK3CA mutations in the Taiwanese breast cancer population.MethodologyThis is a retrospective study; patient data were collected for 2 years from a next-generation sequencing database linked to electronic health records (EHRs). The primary endpoint was the regional prevalence of PIK3CA mutation. The secondary endpoints were to decipher the mutation types across breast cancer subtype, menopausal status, and time to treatment failure after everolimus (an mTOR inhibitor) or cyclin-dependent kinase 4/6 (CDK4/6) inhibitor treatment.ResultsPIK3CA mutations were identified in 278 of 728 patients (38%). PIK3CA mutations were reported in 43% of patients with HR−/HER2+ subtype and 42% of patients with HR+/HER2– postmenopausal status. A lower prevalence of PIK3CA mutations was observed in triple-negative (27%) and HR+/HER2– premenopausal patients (29%). The most common mutation was at exon 20 (H1047R mutation, 41.6%), followed by exon 9 (E545K mutation, 18.9% and E542K mutation, 10.3%). Among patients treated with CDK4/6 inhibitors, the median time to treatment failure was 12 months (95% CI: 7-21 months) in the PIK3CA mutation cohort and 16 months (95% CI: 11-23 months) in the PIK3CA wild-type cohort, whereas patients receiving an mTOR inhibitor reported a median time to treatment failure of 20.5 months (95% CI: 8-33 months) in the PIK3CA mutation cohort and 6 months (95% CI: 2-9 months) in the PIK3CA wild-type cohort.ConclusionA high frequency of PIK3CA mutations was detected in Taiwanese patients with breast cancer, which was consistent with previous studies. Early detection of PIK3CA mutations might influence therapeutic decisions, leading to better treatment outcomes.

【 授权许可】

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Copyright © 2023 Chao, Tsai, Liu, Lien, Lin, Feng, Chen, Lai, Hsu, Lynn, Huang and Tseng