2026-04-17T05:54:30Zhttps://recercat.cat/oai/request

oai:recercat.cat:10230/567902025-12-24T08:53:22Zcom_2072_6col_2072_452952

00925njm 22002777a 4500 dc Ciriaco, Nikaoly author Zamora, Esther author Escrivá-de-Romaní, Santiago author Miranda Gómez, Ignacio author Jiménez Flores, José author Saura, Cristina author Sloane, Hillary author Starus, Anna author Fredebohm, Johannes author Georgieva, Lucy author Speight, Graham author Jones, Frederick author Ramón y Cajal, Santiago author Espinosa-Bravo, Martín author Peg, Vicente author 2023-05-12T06:21:45Z 2023-05-12T06:21:45Z 2022 Background: Although the standard of care is to perform surgery of primary breast cancer (BC) after neoadjuvant chemotherapy (NAC), for certain patients achieving clinical complete response (cCR) and pathologic complete response (pCR), omission of surgical treatment may be an option. Levels of circulating tumor DNA (ctDNA) during and after therapy could identify patients achieving minimal residual disease. In this study, we evaluated whether ctDNA clearance during NAC could be a correlate to effective response in human epidermal growth factor receptor 2 positive (HER2+) and triple-negative (TN) BC patients. Methods: A prospective study was conducted to identify patient-specific PIK3CA and TP53 mutations in tissue using next-generation sequencing, which could then be used to track the presence/absence of mutations prior to, during, and following NAC using Sysmex SafeSEQ technology. All patients underwent a surgical excision after NAC, and pCR was assessed. Results: A total of 29 TN and HER2+ BC patients were examined and 20 that carried mutations in the PIK3CA and/or TP53 genes were recruited. Overall, 19 of these 20 patients harbored at least one tumor-specific mutation in their plasma at baseline. After NAC, 15 patients (75.0%) achieved pCR according to the histopathologic evaluation of the surgical specimen, and 15 patients (75.0%) had a cCR; 18 of 20 patients (90.0%) had concordant pCR and cCR. The status of 'no mutation detected' (NMD) following NAC in cCR patients correctly identified the pCR in 14 of 15 patients (93.33%), as well as correctly ruled out pCR in three patients, with an accuracy of 89.47%. During the 12-month follow-up after surgery, 40 plasma samples collected from 15 patients all showed no detectable ctDNA (NMD), and no patient recurred. Conclusion: These findings prompt further research of the value of ctDNA for non-invasive prediction of clinical/pathological response, raising the possibility of sparing surgery following NAC in selected BC patients. Breast cancer Circulating tumor DNA Liquid biopsy Neoadjuvant therapy Pathologic complete response Clearance of ctDNA in triple-negative and HER2-positive breast cancer patients during neoadjuvant treatment is correlated with pathologic complete response