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Scientific paper - Original scientific paper
Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer
Libri Oncologici : Croatian Journal of Oncology, 51 (2023), 1; 1-8. https://doi.org/10.20471/LO.2023.51.01.01
Ramić, Snježana; Perić-Balja, Melita; Hadžisejdić, Ita; Marušić, Zlatko; Blažičević, Valerija; Tomić, Snježana

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Ramić, S., Perić Balja, M., Hadžisejdić, I., Marušić, Z., Blažičević, V. & Tomić, S. (2023). Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer. Libri Oncologici : Croatian Journal of Oncology, 51. (1), 1-8. doi: 10.20471/LO.2023.51.01.01

Ramić, Snježana, et al. "Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer." Libri Oncologici : Croatian Journal of Oncology, vol. 51, no. 1, 2023, pp. 1-8. https://doi.org/10.20471/LO.2023.51.01.01

Ramić, Snježana, Melita Perić Balja, Ita Hadžisejdić, Zlatko Marušić, Valerija Blažičević and Snježana Tomić. "Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer." Libri Oncologici : Croatian Journal of Oncology 51, no. 1 (2023): 1-8. https://doi.org/10.20471/LO.2023.51.01.01

Ramić, S., et al. (2023) 'Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer', Libri Oncologici : Croatian Journal of Oncology, 51(1), pp. 1-8. doi: 10.20471/LO.2023.51.01.01

Ramić S, Perić Balja M, Hadžisejdić I, Marušić Z, Blažičević V, Tomić S. Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer. Libri Oncologici : Croatian Journal of Oncology [Internet]. 2023 [cited 2024 August 19];51(1):1-8. doi: 10.20471/LO.2023.51.01.01

S. Ramić, M. Perić Balja, I. Hadžisejdić, Z. Marušić, V. Blažičević and S. Tomić, "Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer", Libri Oncologici : Croatian Journal of Oncology, vol. 51, no. 1, pp. 1-8, 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:081660. [Accessed: 19 August 2024]

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Title (english)Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer
Title (croatian)Rezultati multicentričnog testiranja somatskih mutacija gena PIK3CA kod uznapredovalog luminalnog raka dojke s negativnim HER2 receptorom
AuthorSnježana Ramić
AuthorMelita Perić-Balja
AuthorIta Hadžisejdić
AuthorZlatko Marušić
AuthorValerija Blažičević
AuthorSnježana Tomić
Author's institution(Clinical Hospital Center Rijeka)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of General Pathology and Pathological Anatomy)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathology
Abstract (english)
Aim: Activating somatic mutations in p110α catalytic subunit of PIK3-kinase (PIK3CA) are present in about 40% of breast cancers (BC), and are involved in oncogenesis and cancer growth. PIK3CA inhibitor therapy is approved for patients with advanced HR+/HER2- endocrine-resistant BC with somatic PIK3CA mutations. Such targeted therapy improved patient disease-free survival. Method: Analyses of PIK3CA gene mutations were performed in five University Hospital Centers in Croatia. Qualitative detection of PIK3CA gene mutations was performed on DNA extracted from 507 breast cancer samples, by the real-time PCR method using Cobas® PIK3CA mutation test. Results: PIK3CA gene mutations were detected in 209 (42.2%) out of 495 successfully analyzed cases. In 12 cases (2.4%), the tumor tissue was not of sufficient quality for analysis. Most mutations were detected in the helical (41.2%) and kinase domains (46.9%) of the PIK3CA protein. The most frequently detected mutations were H1047L/R/Y (46.4%), E545A/D/G/K (26.3%) and E542K (13.9%), followed by N345K (8.1%). PIK3CA mutations were detected in 44.8% of primary BC cases and in 39.6% of metastatic lesions (χ2=0.647; P=0.421). The age of the tissue did not significantly affect the percentage of detected mutations (χ2=0.543; P =0.461). Institutions differed in the number of analyzed cases, but not in the percentage of detected PIK3CA mutations (χ2=6.23; df=4; P=0.183) nor in the frequency of the most common mutations (χ2=2.65; df=4; P=0.618). Conclusion: The frequencies of PIK3CA mutations correspond to those reported in the literature. We have shown that the tissue of primary BC as well as metastatic lesions are suitable for analysis, and that the age of the tissue is not a significant obstacle in the analysis.
Abstract (croatian)
Cilj: Aktivirajuće somatske mutacije u katalitičkoj podjedinici p110α PIK3-kinaze (PIK3CA) prisutne su u oko 40% karcinoma dojke, a uključene su u onkogenezu i rast raka. Terapija inhibitorima PIK3CA odobrena je za bolesnice s HR+/ HER2- metastatskim endokrino-rezistentnim rakom dojke sa prisutnim somatskim mutacijama gena PIK3CA. Takva ciljana terapija poboljšala je preživljenje bolesnica bez progresije bolesti. Metoda: Analize mutacija gena PIK3CA provedene su u pet kliničkih bolničkih centara (KBC) u Republici Hrvatskoj. Kvalitativna detekcija mutacija gena PIK3CA provedena je na DNA ekstrahiranoj iz 507 uzoraka raka dojke, metodom PCR u stvarnom vremenu koristeći Roche Cobas® PIK3CA mutacijski test. Rezultati: Od 495 uspješno analiziranih uzoraka mutacije gena PIK3CA otkrivene su u 209 bolesnica (42,2%). U dvanaest slučajeva (2,4%) tumorsko tkivo nije bilo zadovoljavajuće kvalitete za analizu. Većina mutacija smještena je u helikalnoj (41,2%) i kinaznoj domeni (46,9%). Najčešće su detektirane mutacije H1047L/R/Y (46,4%), E545A/D/G/K (26,3%), E542K (13,9%) te N345K (8,1%). Mutacije u genu PIK3CA detektirane su u 44,8% slučajeva primarnih karcinoma dojke te u 39.6% metastatskih lezija (χ2=0.647; P=0.421). Starost tkiva nije utjecala na postotak detektiranih mutacija (χ2=0.543; P =0.461). Broj analiziranih uzoraka se razlikuje među institucijama uključenim u istraživanje, ali to nije značajno utjecalo na postotak detektiranih mutacija (χ2=6.23; df=4; P=0.183) kao niti na učestalost pojedinih mutacija koje su obuhvaćene komercijalnim kitom korištenim (χ2=2.65; df=4; P=0.618). Zaključak: Učestalosti detektiranih PIK3CA mutacija odgovaraju onima navedenima u literaturi. Uočili smo da je tkivo primarnog karcinoma dojke i metastatskih lezija jednakovrijedno za analizu, a starost tkiva ne utječe značajno na rezultat analize.
Keywords (english)
Keywords (croatian)
Languageenglish
Languagecroatian
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleLibri Oncologici : Croatian Journal of Oncology
Numberingvol. 51, no. 1, pp. 1-8
p-ISSN0300-8142
e-ISSN2584-3826
DOIhttps://doi.org/10.20471/LO.2023.51.01.01
URN:NBNurn:nbn:hr:184:081660
Publication2023
Document URLhttps://hrcak.srce.hr/305504
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2023-08-16 09:07:54