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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
- Source :
- Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid, Consejería de Sanidad de la Comunidad de Madrid, BMC Cancer
- Publication Year :
- 2017
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid, Consejería de Sanidad de la Comunidad de Madrid, BMC Cancer
- Accession number :
- edsair.doi.dedup.....2d8395ca5f9c886d789de768f46a4dd2