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Table 4 Summary of single-cell sequencing studies of CTCs and DTCs

From: Single-cell sequencing and tumorigenesis: improved understanding of tumor evolution and metastasis

Cell type Tumor type (number of cells, patients) Data type Results Reference
  Colorectal (37, 6) Targeted sequencing Most mutations in CTCs are present in sub-clonal populations of the primary tumor or metastases, but some mutations are exclusive to CTCs [67]
Lung (68, 11) WES/WGS CNVs in CTCs are dissimilar between cancer subtypes; patterns of SNVs and INDELs in CTCs change during treatment, but CNVs remain constant [68]
Prostate (99, 1) WGS SNVs and structural variations in CTCs are also present in primary tumors or metastases [69]
Prostate (25, 2) WES The majority of mutations in CTCs are also present in the primary tumor and metastases [70]
Breast (14, 4) Targeted sequencing High levels of heterogeneity in CTCs within and between patients as well as before and after treatment [71]
Breast (115, 18) Targeted sequencing In some patients heterogeneity of PIK3CA mutations is observed among CTCs and between CTCs and the primary tumor [72]
Breast (11, 2) Targeted sequencing Some CTCs carry the same TP53 mutation(s) as the primary carcinoma, other CTCs carry different mutations [73]
Breast (185, 12) Targeted sequencing CTCs show genetic heterogeneity of PIK3CA mutations over time and discordance between DTCs and metastases [74]
Breast (22, 2) RNA-seq HER2 + CTCs may arise in HER2- breast cancer patients and may contribute to progression and drug resistance [75]
Prostate (77, 13) RNA-seq Heterogeneity in expression of androgen receptor mutations between CTCs within patients may influence treatment response [77]
  Breast (24, 1) Targeted sequencing DTCs show genetic discordance of PIK3CA mutations versus CTCs and metastases; mutations are stable during cell culture [74]
Breast (2, 2) WGS In one patient, DTC was highly concordant with the non-complex primary tumor; DTC from complex primary tumor showed greater genetic divergence [82]
Neuroblastoma (144, 10) Targeted sequencing Mutational status for the ALK gene is concordant between the primary tumor and DTCs for all patients [84]
Breast (63, 6) WGS Some DTCs originate from clones in the primary carcinoma, other DTCs arise from LN metastases [85]
  1. CTC circulating tumor cell, WES whole-exome sequencing, WGS whole-genome sequencing, CNV copy number variant, SNV single nucleotide variant, INDEL insertion/deletion polymorphism, PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha, TP53 tumor protein p53, DTC disseminated tumor cell, RNA-seq RNA sequencing, HER2 human epidermal growth factor receptor 2, ALK anaplastic lymphoma kinase, LN lymph node