Araştırma Makalesi
BibTex RIS Kaynak Göster
Yıl 2023, Cilt: 24 Sayı: 4, 309 - 314, 30.12.2023

Öz

Kaynakça

  • 1. Fusco N, Malapelle U, Fassan M, Marchiò C, Buglioni S, ZupoS, et al. PIK3CA Mutations as a Molecular Target for Hormone ReceptorPositive, HER2-Negative Metastatic Breast Cancer. Front Oncol 2021; 11: 644737.
  • 2. Pala EE, Bayol Ü, Cumurcu S, Keskın E. Triple-Negatif/Bazal Benzeri Meme Kanserinin İmmünohistokimyasal Özellikleri [Immunohistochemical characteristics of triple negative/basal-likebreast cancer]. Turk Patoloji Derg 2012; 28: 238-44.
  • 3. Anderson EJ, Mollon LE, Dean JL, Warholak TL, Aizer A, Platt EA, et al. A Systematic Review of the Prevalence and Diagnostic Workupof PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. Int JBreast Cancer 2020; 2020: 3759179.
  • 4. Mosele F, Stefanovska B, Lusque A, Tran Dien A, Garberis I, DroinN, et al. Outcome and molecular landscape of patients with PIK3CA-mutated metastatic breast cancer. Ann Oncol 2020; 31: 377-86.
  • 5. Vasan N, Toska E, Scaltriti M. Overview of the relevanceof PI3K pathway in HR-positive breast cancer. Ann Oncol 2019; 30(Suppl_10): x3-11.
  • 6. Freelander A, Brown LJ, Parker A, Segara D, Portman N, LauB, et al. Molecular Biomarkers for Contemporary Therapies in HormoneReceptor-Positive Breast Cancer. Genes (Basel) 2021; 12: 285.
  • 7. Thorpe LM, Yuzugullu H, Zhao JJ. PI3K in cancer: divergent rolesof isoforms, modes of activation and therapeutic targeting. Nat RevCancer 2015; 15: 7-24
  • 8. Arsenic R, Treue D, Lehmann A, Hummel M, Dietel M, Denkert C, et al. Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer. BMC Clin Pathol 2015; 15: 20.
  • 9. Kalinsky K, Jacks LM, Heguy A, Patil S, Drobnjak M, Bhanot UK, et al. PIK3CA mutation associates with improved outcome in breast cancer. Clin Cancer Res 2009; 15: 5049-59.
  • 10. Zardavas D, Te Marvelde L, Milne RL, Fumagalli D, Fountzilas G, Kotoula V, et al. Tumor PIK3CA Genotype and Prognosis in EarlyStage Breast Cancer: A Pooled Analysis of Individual Patient Data. J Clin Oncol 2018; 36: 981-90.
  • 11. Mosele F, Stefanovska B, Lusque A, Tran Dien A, Garberis I, Droin N, et al. Outcome and molecular landscape of patients with PIK3CA- mutated metastatic breast cancer. Ann Oncol 2020; 31: 377-86.
  • 12. Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature 2011; 475: 348-52.
  • 13. Venetis K, Sajjadi E, Haricharan S, Fusco N. Mismatch repairtestingin breast cancer: the path to tumor-specific immuno-oncologybiomarkers. Transl Cancer Res 2020; 9: 4060-4.
  • 14. Thorpe LM, Yuzugullu H, Zhao JJ. PI3K in cancer: divergent rolesof isoforms, modes of activation and therapeutic targeting. Nat RevCancer 2015; 15: 7-24.
  • 15. Papaxoinis G, Kotoula V, Alexopoulou Z, Kalogeras KT, Zagouri F, Timotheadou E, et al. Significance of PIK3CA Mutations in Patientswith Early Breast Cancer Treated with Adjuvant Chemotherapy: AHellenic Cooperative Oncology Group (HeCOG) Study. PLoSOne2015; 10: e0140293.
  • 16. Shimoi T, Hamada A, Yamagishi M, Hirai M, Yoshida M, NishikawaT, et al. PIK3CA mutation profiling in patients with breast cancer, using a highly sensitive detection system. Cancer Sci 2018; 109: 2558-66.

Evaluation of Somatic PIK3CA Mutations Detected by Next-generationSequencing in Breast Cancer Cases

Yıl 2023, Cilt: 24 Sayı: 4, 309 - 314, 30.12.2023

Öz

Objective: There have been new developments in determining the development, treatment, and prognosis of breast cancer. Inparticular, determining the characteristics of breast cancer at the molecular level has become crucial in the initiation of newtherapies. In recent years, the detection of PIK3CA mutations in breast cancer, as in many types of cancers, and especially in casesthat have become resistant to treatment, is guiding the use of new targeted drugs. Therefore, the aim of this study was to evaluatePIK3CA mutations in patients with breast cancer.
Materials and Methods: In this study, PIK3CA mutations were detected using next-generation sequencing technology appliedtoparaffin-fixed, paraffin-embedded samples of primary tumortissue from 110 breast cancer patients who did not receive neoadjuvant treatment previously. The relationship between PIK3CA mutation and tumor molecular subtypes, immunohistochemical estrogenreceptor (ER), progesterone receptor (PR), c-erbB2, Ki-67 staining, and human epidermal growth factor 2 (HER2)Neu statusdetected by fluorescence in situ hybridization were investigated.
Results: The PIK3CA mutation was found in 21 (19.1%) cases. A significant positive correlation was detected between ER, PR, and luminal A type and PIK3CA mutations (p<0.05). PIK3CA mutation was not observed in any case with triple negative type. Nostatistically significant correlation was found with other clinicopathological parameters. The most common PIK3CAmutationsubtypes were H1047R and E542K.
Conclusion: The results of our study showed that PIK3CA mutations were observed at significantly higher rates in hormonereceptor-positive patients, but PIK3CA mutations may be less frequently observed in HER2+ patients.

Kaynakça

  • 1. Fusco N, Malapelle U, Fassan M, Marchiò C, Buglioni S, ZupoS, et al. PIK3CA Mutations as a Molecular Target for Hormone ReceptorPositive, HER2-Negative Metastatic Breast Cancer. Front Oncol 2021; 11: 644737.
  • 2. Pala EE, Bayol Ü, Cumurcu S, Keskın E. Triple-Negatif/Bazal Benzeri Meme Kanserinin İmmünohistokimyasal Özellikleri [Immunohistochemical characteristics of triple negative/basal-likebreast cancer]. Turk Patoloji Derg 2012; 28: 238-44.
  • 3. Anderson EJ, Mollon LE, Dean JL, Warholak TL, Aizer A, Platt EA, et al. A Systematic Review of the Prevalence and Diagnostic Workupof PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. Int JBreast Cancer 2020; 2020: 3759179.
  • 4. Mosele F, Stefanovska B, Lusque A, Tran Dien A, Garberis I, DroinN, et al. Outcome and molecular landscape of patients with PIK3CA-mutated metastatic breast cancer. Ann Oncol 2020; 31: 377-86.
  • 5. Vasan N, Toska E, Scaltriti M. Overview of the relevanceof PI3K pathway in HR-positive breast cancer. Ann Oncol 2019; 30(Suppl_10): x3-11.
  • 6. Freelander A, Brown LJ, Parker A, Segara D, Portman N, LauB, et al. Molecular Biomarkers for Contemporary Therapies in HormoneReceptor-Positive Breast Cancer. Genes (Basel) 2021; 12: 285.
  • 7. Thorpe LM, Yuzugullu H, Zhao JJ. PI3K in cancer: divergent rolesof isoforms, modes of activation and therapeutic targeting. Nat RevCancer 2015; 15: 7-24
  • 8. Arsenic R, Treue D, Lehmann A, Hummel M, Dietel M, Denkert C, et al. Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer. BMC Clin Pathol 2015; 15: 20.
  • 9. Kalinsky K, Jacks LM, Heguy A, Patil S, Drobnjak M, Bhanot UK, et al. PIK3CA mutation associates with improved outcome in breast cancer. Clin Cancer Res 2009; 15: 5049-59.
  • 10. Zardavas D, Te Marvelde L, Milne RL, Fumagalli D, Fountzilas G, Kotoula V, et al. Tumor PIK3CA Genotype and Prognosis in EarlyStage Breast Cancer: A Pooled Analysis of Individual Patient Data. J Clin Oncol 2018; 36: 981-90.
  • 11. Mosele F, Stefanovska B, Lusque A, Tran Dien A, Garberis I, Droin N, et al. Outcome and molecular landscape of patients with PIK3CA- mutated metastatic breast cancer. Ann Oncol 2020; 31: 377-86.
  • 12. Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature 2011; 475: 348-52.
  • 13. Venetis K, Sajjadi E, Haricharan S, Fusco N. Mismatch repairtestingin breast cancer: the path to tumor-specific immuno-oncologybiomarkers. Transl Cancer Res 2020; 9: 4060-4.
  • 14. Thorpe LM, Yuzugullu H, Zhao JJ. PI3K in cancer: divergent rolesof isoforms, modes of activation and therapeutic targeting. Nat RevCancer 2015; 15: 7-24.
  • 15. Papaxoinis G, Kotoula V, Alexopoulou Z, Kalogeras KT, Zagouri F, Timotheadou E, et al. Significance of PIK3CA Mutations in Patientswith Early Breast Cancer Treated with Adjuvant Chemotherapy: AHellenic Cooperative Oncology Group (HeCOG) Study. PLoSOne2015; 10: e0140293.
  • 16. Shimoi T, Hamada A, Yamagishi M, Hirai M, Yoshida M, NishikawaT, et al. PIK3CA mutation profiling in patients with breast cancer, using a highly sensitive detection system. Cancer Sci 2018; 109: 2558-66.
Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Patoloji
Bölüm Araştırma Makalesi
Yazarlar

İbrahim Halil Erdoğdu

Duygu Gürel

Yayımlanma Tarihi 30 Aralık 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 24 Sayı: 4

Kaynak Göster

EndNote Erdoğdu İH, Gürel D (01 Aralık 2023) Evaluation of Somatic PIK3CA Mutations Detected by Next-generationSequencing in Breast Cancer Cases. Meandros Medical And Dental Journal 24 4 309–314.