PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories

References

• 1. Jagannathan G, White MJ, Xian RR et al. A new landscape of testing and therapeutics in metastatic breast cancer. Clin. Lab. Med. 43(2), 299–321 (2023).
  MedlineGoogle Scholar
• 2. Toppmeyer DL, Press MF. Testing considerations for phosphatidylinositol-3-kinase catalytic subunit alpha as an emerging biomarker in advanced breast cancer. Cancer Med. 9(18),6463–6472 (2020).
  Medline CASGoogle Scholar
• 3. Hou Y, Peng Y, Li Z. Update on prognostic and predictive biomarkers of breast cancer. Semin. Diagn. Pathol. 39(5), 322–332 (2022).
  MedlineGoogle Scholar
• 4. Fusco N, Malapelle U, Fassan M et al. PIK3CA mutations as a molecular target for hormone receptor-positive, HER2-negative metastatic breast cancer. Front. Oncol. 11, 644737 (2021).
  Medline CASGoogle Scholar
• 5. Alves CL, Ditzel HJ. Drugging the PI3K/AKT/mTOR Pathway in ER+ Breast Cancer. Int. J. Mol. Sci. 24, 4522 (2023).
  Medline CASGoogle Scholar
• 6. Schwartzberg LS, Vidal GA. Targeting PIK3CA alterations in hormone receptor-positive, human epidermal growth factor receptor-2-negative advanced breast cancer: new therapeutic approaches and practical considerations. Clin Breast Cancer. 20(4), e439–e449 (2020).
  Medline CASGoogle Scholar
• 7. André F, Ciruelos EM, Juric D et al. Alpelisib plus fulvestrant for PIK3CA-mutated, hormone receptor-positive, human epidermal growth factor receptor-2-negative advanced breast cancer: final overall survival results from SOLAR-1. Ann Oncol. 32(2), 208–217 (2021).
  Medline CASGoogle Scholar
• 8. Gennari A, André F, Barrios CH et al. , ESMO Guidelines Committee. ESMO Clinical Practice Guideline for the diagnosis, staging and treatment of patients with metastatic breast cancer. Ann Oncol. 32, 1475–1495 (2021).
  Medline CASGoogle Scholar
• 9. Hanan EJ, Braun MG, Heald RA et al. Discovery of GDC-0077 (inavolisib), a highly selective inhibitor and degrader of mutant PI3Kα. J. Med Chem. 65(24), 16589–16621 (2022).
  Medline CASGoogle Scholar
• 10. Juric D, Kalinsky K, Im S-A et al. INAVO121: phase III study of inavolisib (INAVO)+fulvestrant (FUL) vs. alpelisib (ALP)+FUL in patients (pts) with hormone receptor-positive, HER2-negative (HR⁺, HER2⁻) PIK3CA-mutated (mut) locally advanced or metastatic breast cancer (LA/mBC). J. Clin. Oncol. 41(Suppl. 16), TPS1123 (2023).
  Google Scholar
• 11. Suppan C, Graf R, Jahn S et al. Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients. Br. J. Cancer 126(3), 456–463 (2022).
  Medline CASGoogle Scholar
• 12. Deans ZC, Costa JL, Cree I et al. Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL. Virchows Arch. 470(1), 5–20 (2017).
  Medline CASGoogle Scholar
• 13. Venetis K, Pepe F, Munzone E et al. Analytical performance of next-generation sequencing and RT-PCR on formalin-fixed paraffin-embedded tumor tissues for PIK3CA testing in HR⁺/HER2⁻ breast cancer. Cells 11(22), 3545 (2022).
  Medline CASGoogle Scholar
• 14. Raez LE, Brice K, Dumais K et al. Liquid biopsy versus tissue biopsy to determine front line therapy in metastatic non-small cell lung cancer (NSCLC). Clin. Lung Cancer 24(2), 120–129 (2023).
  Medline CASGoogle Scholar
• 15. Henry NL, Somerfield MR, Dayao Z et al. Biomarkers for systemic therapy in metastatic breast cancer: ASCO Guideline update. J. Clin. Oncol. 40(27), 3205–3221 (2022).
  Medline CASGoogle Scholar
• 16. Angerilli V, Galuppini F, Pagni F et al. The role of the pathologist in the next-generation era of tumor molecular characterization. Diagnostics 11(2), 339 (2021).
  Medline CASGoogle Scholar
• 17. Cappello F, Angerilli V, Munari G et al. FFPE-based NGS approaches into clinical practice: the limits of glory from a pathologist viewpoint. J. Pers. Med. 12(5), 750 (2022).
  MedlineGoogle Scholar
• 18. Pescia C, Guerini-Rocco E, Viale G et al. Advances in early breast cancer risk profiling: from histopathology to molecular technologies. Cancers 15(22), 5430 (2023).
  Medline CASGoogle Scholar
• 19. Bayle A, Peyraud F, Belcaid L et al. Liquid versus tissue biopsy for detecting actionable alterations according to the ESMO Scale for Clinical Actionability of Molecular Targets in patients with advanced cancer: a study from the French National Center for Precision Medicine (PRISM). Ann. Oncol. 33(12), 1328–1331 (2022).
  Medline CASGoogle Scholar
• 20. Ivanova M, Porta FM, D’Ercole M et al. Standardized pathology report for HER2 testing in compliance with 2023 ASCO/CAP updates and 2023 ESMO consensus statements on HER2-low breast cancer. Virchows Arch. 484(1), 3–14 (2024).
  Medline CASGoogle Scholar
• 21. Rolfo C, Mack P, Scagliotti GV et al. Liquid biopsy for advanced NSCLC: a consensus statement from the International Association for the Study of Lung Cancer. J. Thorac. Oncol. 16(10), 1647–1662 (2021).
  Medline CASGoogle Scholar
• 22. Malapelle U, Mayo de-Las-Casas C, Rocco D et al. Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients. Br. J. Cancer 116(6), 802–810 (2017).
  Medline CASGoogle Scholar
• 23. Fusco N, Ivanova M, Frascarelli C et al. Advancing the PD-L1 CPS test in metastatic TNBC: insights from pathologists and findings from a nationwide survey. Crit. Rev. Oncol. Hematol. 190, 104103 (2023).
  MedlineGoogle Scholar
• 24. André F, Ciruelos E, Rubovszky G et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N. Engl. J. Med. 380(20), 1929–1940 (2019).
  Medline CASGoogle Scholar
• 25. Rugo HS, Lerebours F, Ciruelos E et al. Alpelisib plus fulvestrant in PIK3CA-mutated, hormone receptor-positive advanced breast cancer after a CDK4/6 inhibitor (BYLieve): one cohort of a phase 2, multicentre, open-label, non-comparative study. Lancet Oncol. 22(4), 489–498 (2021).
  Medline CASGoogle Scholar
• 26. Bonizzi G, Capra M, Cassi C et al. Biobank for translational medicine: standard operating procedures for optimal sample management. J. Vis. Exp. (189):doi: 10.3791/63950 (2022).
  MedlineGoogle Scholar
• 27. Wen HY, Collins LC. Breast cancer pathology in the era of genomics. Hematol. Oncol. Clin. North Am. 37(1), 33–50 (2023).
  MedlineGoogle Scholar
• 28. Uehara Y, Koyama T, Katsuya Y et al. Travel time and distance and participation in precision oncology trials at the National Cancer Center Hospital. JAMA Netw. Open. 6(9), e2333188 (2023).
  MedlineGoogle Scholar
• 29. Bowen A, Gómez-Trillos S, Curran G et al. Advancing health equity: a qualitative study assessing barriers and facilitators of implementing hereditary breast and ovarian cancer risk screening tools in community-based organizations. J. Genet. Couns. 32(5), 965–981 (2023).
  MedlineGoogle Scholar
• 30. Ranghiero A, Frascarelli C, Cursano G et al. Circulating tumour DNA testing in metastatic breast cancer: integration with tissue testing. Cytopathology 34(6), 519–529 (2023).
  MedlineGoogle Scholar
• 31. Alvarez-Garcia V, Bartos C, Keraite I et al. A simple and robust real-time qPCR method for the detection of PIK3CA mutations. Sci. Rep. 8(1), 4290 (2018).
  MedlineGoogle Scholar
• 32. Craene BD, Velde JVd, Rondelez E et al. Detection of microsatellite instability (MSI) in colorectal cancer samples with a novel set of highly sensitive markers by means of the Idylla MSI Test prototype. J. Clin. Oncol. 36(Suppl. 15), e15639 (2018).
  Google Scholar
• 33. Cazzato G, Caporusso C, Arezzo F et al. Formalin-fixed and paraffin-embedded samples for next generation sequencing: problems and solutions. Genes 12(10), 1472 (2021).
  Medline CASGoogle Scholar
• 34. Bewicke-Copley F, Arjun Kumar E, Palladino G et al. Applications and analysis of targeted genomic sequencing in cancer studies. Comput. Struct. Biotechnol. J. 17, 1348–1359 (2019).
  Medline CASGoogle Scholar
• 35. Acs B, Fredriksson I, Rönnlund C et al. Variability in breast cancer biomarker assessment and the effect on oncological treatment decisions: a nationwide 5-year population-based study. Cancers (Basel) 13(5), 1166 (2021).
  Medline CASGoogle Scholar
• 36. Vollbrecht C, Hoffmann I, Lehmann A et al. Proficiency testing of PIK3CA mutations in HR⁺/HER2⁻ breast cancer on liquid biopsy and tissue. Virchows Arch. 482(4), 697–706 (2023).
  Medline CASGoogle Scholar
• 37. Lockwood CM, Borsu L, Cankovic M et al. Recommendations for cell-free DNA assay validations: a joint consensus recommendation of the Association for Molecular Pathology and the College of American Pathologists. J. Mol. Diagn. 25, 876–897 (2023).
  Medline CASGoogle Scholar
• 38. Dufraing K, Fenizia F, Torlakovic E et al. Biomarker testing in oncology – requirements for organizing external quality assessment programs to improve the performance of laboratory testing: revision of an expert opinion paper on behalf of IQNPath ABSL. Virchows Arch. 478(3), 553–565 (2021).
  Medline CASGoogle Scholar