PIK3CA基因突变与HR阳性且HER2阴性乳腺癌的关系
The Relationship between PIK3CA Mutation and Hormone Receptor Positive and HER2 Negative Breast Cancer
DOI: 10.12677/ACM.2023.132384, PDF,   
作者: 依合里曼·买买提, 梁丽萍, 江志民, 马晓梅*:新疆医科大学第三临床医学院(附属肿瘤医院)病理科,新疆 乌鲁木齐
关键词: 乳腺癌ERHRHR+/HER2?PIK3CABreast Cancer ER HR HR+/HER2? PIK3CA
摘要: PIK3CA靶向药物也在临床上得到开发和试验验证。PI3K抑制剂已批准用于PIK3CA突变、激素受体阳性且HER2阴性(HR+/HER2−)晚期乳腺癌患者。然而并非所有患者都能从靶向治疗获益且大多数患者不可避免地会出现内分泌抵抗。PIK3CA突变状态作为HR+/HER2−乳腺癌生物标志物的预后和预测价值,作为分子靶点用于乳腺癌的常规治疗等方面仍存在争议。
Abstract: PIK3CA targeted drugs have also been developed and tested clinically. PI3K inhibitor has been ap-proved for use in patients with PIK3CA mutation, hormone receptor positive and HER2 negative (HR+/HER2−) advanced breast cancer. However, not all patients can benefit from targeted therapy and most patients will inevitably develop endocrine resistance. The PIK3CA mutation status as a biomarker of HR+/HER2 breast cancer and its predictive value, as a molecular target for routine treatment of breast cancer, is still controversial.
文章引用:依合里曼·买买提, 梁丽萍, 江志民, 马晓梅. PIK3CA基因突变与HR阳性且HER2阴性乳腺癌的关系[J]. 临床医学进展, 2023, 13(2): 2724-2728. https://doi.org/10.12677/ACM.2023.132384

参考文献

[1] Leong, S.P., Shen, Z.Z., Liu, T.J., Agarwal, G., Tajima, T., Paik, N.S., Sandelin, K., Derossis, A., Cody, H. and Foulkes, W.D. (2010) Is Breast Cancer the Same Disease in Asian and Western Countries? World Journal of Surgery, 34, 2308-2324. [Google Scholar] [CrossRef] [PubMed]
[2] Wilkinson, L. and Gathani, T. (2022) Understanding Breast Cancer as a Global Health Concern. The British Journal of Radiology, 95, Article ID: 20211033. [Google Scholar] [CrossRef] [PubMed]
[3] Mollon, L.E. anderson, E.J., Dean, J.L., et al. (2020) A Systematic Lit-erature Review of the Prognostic and Predictive Value of PIK3CA Mutations 17 in HR+/HER2− Metastatic Breast Can-cer. Clinical Breast Cancer, 20, e232-e243. [Google Scholar] [CrossRef] [PubMed]
[4] Mosele, F., Stefanovska, B., Lusque, A., et al. (2020) Outcome and Molecular Landscape of Patients with PIK3CA- Mutated Metastatic Breast Cancer. Annals of Oncology, 31, 377-386. [Google Scholar] [CrossRef] [PubMed]
[5] Hennessy, B.T., Smith, D.L., Ram, P.T., Lu, Y. and Mills, G.B. (2005) Exploiting the PI3K/AKT Pathway for Cancer Drug Discovery. Nature Reviews Drug Discovery, 4, 988-1004. [Google Scholar] [CrossRef] [PubMed]
[6] Vivanco, I. and Sawyers, C.L. (2002) The Phosphatidylinositol 3-Kinase AKT Pathway in Human Cancer. Nature Reviews Cancer, 2, 489-501. [Google Scholar] [CrossRef] [PubMed]
[7] Cantley, L.C. (2002) The Phosphoinositide 3-Kinase Pathway. Science, 296, 1655-1657. [Google Scholar] [CrossRef] [PubMed]
[8] Arafeh, R. and Samuels, Y. (2019) PIK3CA in Cancer: The Past 30 Years. Seminars in Cancer Biology, 59, 36-49. [Google Scholar] [CrossRef] [PubMed]
[9] Vitale, S.R., Martorana, F., Stella, S., et al. (2021) PI3K In-hibition in Breast Cancer: Identifying and Overcoming Different Flavors of Resistance. Critical Reviews in Oncolo-gy/Hematology, 162, Article ID: 103334. [Google Scholar] [CrossRef] [PubMed]
[10] Katso, R., Okkenhaug, K., Ahmadi, K., et al. (2001) Cellular Function of Phosphoinositide 3-Kinases: Implications for Development, Homeostasis, and Cancer. Annual Review of Cell and Developmental Biology, 17, 615-675. [Google Scholar] [CrossRef] [PubMed]
[11] Vanhaesebroeck, B., Guillermet-Guibert, J., Graupera, M. and Bilanges, B. (2010) The Emerging Mechanisms of Isoform-Specific PI3K Signalling. Nature Reviews Molecular Cell Biology, 11, 329-341. [Google Scholar] [CrossRef] [PubMed]
[12] Samuels, Y. and Velculescu, V.E. (2004) Oncogenic Mutations of PIK3CA in Human Cancers. Cell Cycle, 3, 1221- 1224. [Google Scholar] [CrossRef] [PubMed]
[13] Koboldt, D.C., Fulton, R., McLellan, M., et al. (2012) Comprehensive Molecular Portraits of Human Breast Tumours. Nature, 490, 61-70. [Google Scholar] [CrossRef] [PubMed]
[14] Martínez-Sáez, O., Chic, N., Pascual, T., et al. (2020) Frequency and Spectrum of PIK3CA Somatic Mutations in Breast Cancer. Breast Cancer Research, 22, 45. [Google Scholar] [CrossRef] [PubMed]
[15] Samuels, Y., Diaz, L.A., Schmidt-Kitler, O., et al. (2005) Mutant PIK3CA Promotes Cell Growth and Invasion of Human Cancer Cells. Cancer Cell, 7, 561-573. [Google Scholar] [CrossRef] [PubMed]
[16] Guo, X.N., RajPut, A., Rose, R., et al. (2007) Mutant PIK3CA-Bearing Colon Cancer Cells Display Increased Metastasis in Orthotopic Model. Cancer Research, 67, 5851-5858. [Google Scholar] [CrossRef
[17] Dunlap, J., Le, C., Shukla, A., et al. (2010) Phosphatidylinositol-3-Kinase and AKT1 Mutations Occur Early in Breast Carcinoma. Breast Cancer Research and Treatment, 120, 409-418. [Google Scholar] [CrossRef] [PubMed]
[18] Dumont, A.G., Dumont, S.N. and Trent, J.C. (2012) The Favorable Impact of PIK3CA Mutations on Survival: An Analysis of 2587 Patients with Breast Cancer. Chinese Journal of Cancer, 31, 327-334. [Google Scholar] [CrossRef] [PubMed]
[19] Pang, B., Cheng, S., Sun, S.-P., et al. (2015) Prognostic Role of PIK3CA Mutations and Their Association with Hormone Receptor Expression in Breast Cancer: A Meta-Analysis. Sci-entific Reports, 4, Article No. 6255. [Google Scholar] [CrossRef] [PubMed]
[20] Sobhani, N., Roviello, G., Corona, S.P., et al. (2018) The Prognostic Value of PI3K Mutational Status in Breast Cancer: A Meta-Analysis. Journal of Cellular Biochemistry, 119, 4287-4292. [Google Scholar] [CrossRef] [PubMed]
[21] Fan, H., Li, C., Xiang, Q., et al. (2018) PIK3CA Mutations and Their Re-sponse to Neoadjuvant Treatment in Early Breast Cancer: A Systematic Review and Meta-Analysis. Thoracic Cancer, 9, 571-579. [Google Scholar] [CrossRef] [PubMed]
[22] Burstein, H.J. (2020) Systemic Therapy for Estrogen Recep-tor-Positive, HER2-Negative Breast Cancer. The New England Journal of Medicine, 383, 2557-2570. [Google Scholar] [CrossRef
[23] Clark, G.M., Osborne, C.K. and McGuire, W.L. (1984) Correlations between Estrogen Receptor, Progesterone Receptor, and Patient Characteristics in Human Breast Cancer. Journal of Clinical Oncology, 2, 1102-1109. [Google Scholar] [CrossRef
[24] Colleoni, M., Rotmensz, N., Maisonneuve, P., et al. (2012) Outcome of Special Types of Luminal Breast Cancer. Annals of Oncology, 23, 1428-1436. [Google Scholar] [CrossRef] [PubMed]
[25] Sabine, V., Crozier, C., Drake, C., Piper, T., et al. (2012) PIK3CA Mutations Are Linked to PgR Expression: A Tamoxifen Exemestane Adjuvant Multinational (TEAM) Pathology Study. Cancer Research, 72, S1-S5. [Google Scholar] [CrossRef
[26] Anderson, E.J., Mollon, L., Dean, J.L., et al. (2018) A Systematic Literature Review of the Clinical Prognosis of HR+/ HER2-Advanced or Metastatic Breast Cancer with and without PIK3CA Mutation. Journal of Clinical Oncology, 36, e13037. [Google Scholar] [CrossRef
[27] Ellis, M.J., Lin, L., Crowder, R., et al. (2010) Phos-phatidyl-inositol-3-kinase Alpha Catalytic Subunit Mutation and Response to Neoadjuvant Endocrine Therapy for Estro-gen Receptor Positive Breast Cancer. Breast Cancer Research and Treatment, 119, 379-390. [Google Scholar] [CrossRef] [PubMed]
[28] Cardoso, F., Senkus, E., Costa, A., et al. (2018) 4th ESO-ESMO International Consensus Guidelines for Advanced Breast Cancer (ABC 4). Annals of Oncology, 29, 1634-1657. [Google Scholar] [CrossRef] [PubMed]
[29] Vasan, N., Toska, E. and Scaltriti, M. (2019) Overview of the Rele-vance of PI3K 19 Pathway in HR-Positive Breast Cancer. Annals of Oncology, 30, x3-x11. [Google Scholar] [CrossRef] [PubMed]
[30] Dresman, D., Yan, H., Traverso, G., et al. (2003) Transforming Sin-gle DNA Molecules into Fluorescent Magnetic Particles for Detection and Enumeration of Genetic Variations. Proceed-ings of the National Academy of Sciences of the United States of America, 100, 8817-8822. [Google Scholar] [CrossRef] [PubMed]
[31] Diehl, F., Li, M., Dressman, D., et al. (2005) Detection and Quanti-fication of Mutations in the Plasma of Patients with Colorectal Tumors. Proceedings of the National Academy of Sciences of the United States of America, 102, 16368- 16373. [Google Scholar] [CrossRef] [PubMed]
[32] Mosele, F., Stefanovska, B., Lusque, A., Tran Dien, A., Garberis, I., Droin, N., Le Tourneau, C., Sablin, M.P., Lacroix, L., Enrico, D., et al. (2020) Outcome and Molecular Landscape of Patients with PIK3CA-Mutated Metastatic Breast Cancer. Annals of Oncology, 31, 377-386. [Google Scholar] [CrossRef] [PubMed]
[33] Mollon, L.E. anderson, E.J., Dean, J.L., Warholak, T.L., Aizer, A., Platt, E.A., Tang, D.H. and Davis, L.E. (2020) A Systematic Literature Review of the Prognostic and Predictive Value of PIK3CA Mutations in HR(+)/HER2(−) Metastatic Breast Cancer. Clinical Breast Cancer, 20, e232-e243. [Google Scholar] [CrossRef] [PubMed]
[34] Juric, D., Ciruelos, E., Rubovszky, G., et al. (2019) Abstract GS3-08: Alpelisib + fulvestrant for Advanced Breast Cancer: Subgroup Analyses from the Phase III SOLAR-1 Trial. Gen Sess. Abstr., American Association for Cancer Research, Philadelphia, GS3-08-3. [Google Scholar] [CrossRef
[35] Andre, F., Ciruelos, E., Rubovszky, G., et al. (2019) Alpelisib for PIK3CA-Mutated, Hormone Receptor-Positive Advanced Breast Cancer. The New England Journal of Medicine, 380, 1929-1940. [Google Scholar] [CrossRef
[36] Ramirez-Ardila, D.E., Helmijr, J.C., Look, M.P., et al. (2013) Hotspot Mutations in PIK3CA Associate with First-Line Treatment Outcome for Aromatase Inhibitors But Not for Ta-moxifen. Breast Cancer Research and Treatment, 139, 39-49. [Google Scholar] [CrossRef] [PubMed]
[37] Stemke-Hale, K., Gonzalez-Angulo, A.M., Lluch, A., et al. (2008) An Integrative Genomic and Proteomic Analysis of PIK3CA, PTEN, and AKT Mutations in Breast Cancer. Cancer Re-search, 68, 6084-6091. [Google Scholar] [CrossRef
[38] Maruyama, N., Miyoshi, Y., Taguchi, T., et al. (2007) Clinicopathologic Analysis of Breast Cancers with PIK3CA Mutations in Japanese Women. Clinical Cancer Research, 13, 408-414. [Google Scholar] [CrossRef
[39] Beelen, K., Opdam, M., Severson, T.M., et al. (2014) Phosphorylated p-70S6K Predicts Tamoxifen Resistance in Postmenopausal Breast Cancer Patients Randomized between Adjuvant Tamoxifen versus No Systemic Treatment. Breast Cancer Research, 16, R6. [Google Scholar] [CrossRef] [PubMed]
[40] Kalinsky, K., Jacks, L.M., Heguy, A., et al. (2009) PIK3CA Mutation Asso-ciates with Improved Outcome in Breast Cancer. Clinical Cancer Research, 15, 5049-5059. [Google Scholar] [CrossRef