Table 1.
Recent clonal evolution studies using next generation sequencing approaches.
| Study | Technology | Cohort | Disease | Findings |
|---|---|---|---|---|
| Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. NEJM (2012) | WXS, SNP Array, mRNA array | 4 | metastatic renal-cell carcinoma, pre/post treatment | Intratumoral heterogeneity, metastasis, and treatment resistance emerge from distinct subclonal mutations within a single tumor |
| Mosaic amplification of multiple receptor tyrosine kinase genes in glioblastoma. Cancer Cell (2011) | SNP Array, FISH | 350+206 (TC GA) | Glioblastoma (GBM) | Divergent subclones evolve from a common ancestor and accumulate independent drivers via mosaic tyrosine kinase amplifications |
| Inferring tumor progression from genomic heterogeneity. GR (2010) | CGH, macro dissection, flow sorting, FISH | 20 | Breast (primary ductal breast carcinomas) | Distinct heterogeneous clones expand from a common ancestor with accumulation of unique copy number and structural aberrations patterns |
| Tumour evolution inferred by single-cell sequencing. Nature (2011). | Single Cell WGS, CNV | 2 | Breast Cancer | Tumor growth is typified by punctuated clonal expansions accompanied by copy number changes that may lead to clonal divergence |
| Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell (2012) | WXS + Single Cell WXS | 1 | Kidney (Clear cell renal cell carcinoma - ccRCC) | Single cell sequencing identifies intratumoral heterogeneity with distinct mutation patterns but no single dominant clone. |
| Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferati ve neoplasm. Cell (2012) | Single Cell WXS | 1 | Myeloproliferative Neoplasm (MPN) | Single cell sequencing establishes monoclonal origin of an essential thrombocythemia (ET). |
| The life history of 21 breast cancers. Cell (2012) | WGS | 21 | Breast Cancers, Various Subtypes | Typical breast tumors consist of one dominant clone with additional minor subclones sharing a common origin. |
| The origin and evolution of mutations in acute myeloid leukemia. Cell (2012) | WGS | 24 | AML M1/M3 primary tumors | Clonal origins of AML reflect a small number of driver mutations accompanied by of a larger number of random background mutations that accumulate in stem cells over time. |
| Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) | WGS | 1 | Breast Cancer (Basal-like – Primary, Metastasis, Xeno graft) | Patterns of clonal enrichment and divergence emerge in metastasis and xenograft from a primary tumor. |
| Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 481 (2012) | WGS | 8 | Acute myeloid leukemia relapse (AML) | Mutational patterns establish clonal expansion and tumor evolution in AML relapse (post chemotherapy) |