Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging
| Autor: | Atocha Romero, Julián Sanz, Miguel Barquín, Fernando Salvador Moreno, Marta García García-Esquinas, Trinidad Caldés, José A. García-Sáenz, Myriam Montes, Marion Laig, Eduardo Díaz-Rubio, Vanesa García-Barberán, Daniel Acosta-Eyzaguirre, Patricia Ayllón |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Cancer Research Pathology medicine.medical_specialty Class I Phosphatidylinositol 3-Kinases Mutant DNA Mutational Analysis Mutation Missense Breast Neoplasms Lesion 03 medical and health sciences Phosphatidylinositol 3-Kinases 0302 clinical medicine Breast cancer Surgical oncology Biopsy Genetics medicine Biomarkers Tumor Mammography Humans Digital polymerase chain reaction cfDNA Aged Neoplasm Staging Aged 80 and over medicine.diagnostic_test business.industry dPCR Cancer PIK3CA DNA Neoplasm Middle Aged medicine.disease Tumor Burden 030104 developmental biology Oncology 030220 oncology & carcinogenesis Female medicine.symptom business Research Article |
| Zdroj: | Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid BMC Cancer |
| Popis: | Background Accurate measurement of tumor burden in breast cancer disease is essential to improve the clinical management of patients. In this study, we evaluate whether the fluctuations in the fraction of PIK3CA mutant allele correlates with tumor response according to RECIST criteria and tumor markers quantification. Methods Eighty six plasma samples were analyzed by digital PCR using Rare Mutation Assays for E542K, E545K and H1047R. Mutant cfDNA and tumor markers CA15-3 and CEA were compared with radiographic imaging. Results The agreement between PIK3CA mutation status in FFPE samples and circulating tumor DNA (ctDNA) was moderate (K = 0.591; 95% IC = 0.371–0.811). Restricting the analysis to the metastatic patients, we found a good agreement between PIK3CA mutation status assessed in liquid and solid biopsy (K = 0.798 95%; IC = 0.586–1). ctDNA showed serial changes with fluctuations correlating with tumor markers 15.3 and CEA in 7 out of 8 cases with Pearson correlation coefficients ranging from 0.99 to 0.46 and from 0.99 to 0.38 respectively. Similarly, fluctuations in the fraction of PIK3CA mutant allele always correlated with changes in lesion size seen on images, although in two cases it did not correlate with treatment responses as defined by RECIST criteria. Conclusion oncogenic mutation quantification in plasma samples can be useful to monitor treatment outcome. However, it might be limited by tumor heterogeneity in advanced disease and it should be evaluated together with radiographic imaging. Electronic supplementary material The online version of this article (doi:10.1186/s12885-017-3185-9) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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