Table 4 Tumor Heterogeneity: significance of ctDNA
From: Liquid biopsy and tumor heterogeneity in metastatic solid tumors: the potentiality of blood samples
Tumor type | Findings | References |
|---|---|---|
Breast Cancer | Identification of ER mutations in ctDNA not present in DNA from tumor biopsy | [69] |
ER mutations in ctDNA is associated with resistance to endocrine therapy | ||
Identification of PIK3CA alterations in plasma-derived ctDNA | [72] | |
PIK3CA ctDNA levels are associated with response to palbociclib and fulvestrant therapy | [73] | |
HER2 mutation frequency predicts response to neratinib | [74] | |
Association of ctDNA fraction and somatic copy number alterations with worse outcomes | ||
Non Small Cell Lung Cancer | Association of EGFR mutations with survival | |
Detection of EGFR mutations in ctDNA allows to identify patients eligible for anti-EGFR treatments (FDA-approved) | [78] | |
Identification of EGFR mutations responsible of response to gefitinib | [79] | |
Identification of EGFR mutation responsible of anti-EGFR therapy resistance (e.g. T790M) | [80] | |
Longitudinal quantitative changes in ctDNA correlate with therapeutic response | [82] | |
Colorectal Cancer | ctDNA analysis allows to identify KRAS, BRAF, APC, PIK3CA, EGFR and NRAS mutations helping clinicians’ treatment strategy choice | |
Detection of EGFR and APC mutations in ctDNA to track clonal evolution and therapy response | ||
KRAS mutations in ctDNA can be detected before radiological relapse | [87] | |
Castration Sensitive Prostate Cancer | ctDNA provides complementary information to a prostate needle biopsy and could be used to guide management strategies | [89] |
Detection of AR gene alteration to monitor treatment response or resistance |