Cancer Evolution and Heterogeneity

Overview

Journal Ann Gastroenterol Surg

Date 2018 Sep 22

PMID 30238073

Citations 14

Authors

Koshi Mimori

Tomoko Saito

Atsushi Niida

Satoru Miyano

Affiliations

Soon will be listed here.

Abstract

Undoubtedly, intratumor heterogeneity (ITH) is one of the causes of the intractability of cancers. Recently, technological innovation in genomics has promoted studies on ITH in solid tumors and on the pattern and level of diversity, which varies among malignancies. We profiled the genome in multiple regions of nine colorectal cancer (CRC) cases. The most impressive finding was that in the late phase, a parental clone branched into numerous subclones. We found that minor mutations were dominant in advanced CRC named neutral evolution; that is, driver gene aberrations were observed with high proportion in the early-acquired phase, but low in the late-acquired phase. Then, we validated that neutral evolution could cause ITH in advanced CRC by super-computational analysis. According to the clinical findings, we explored a branching evolutionary process model in cancer evolution, which assumes that each tumor cell has cellular automaton. According to the model, we verified factors to foster ITH with neutral evolution in advanced CRC. In this review, we introduce recent advances in the field of ITH including the general component of ITH, clonal selective factors that consolidate the evolutionary process, and a representative clinical application of ITH.

Citing Articles

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References

Marusyk A, Tabassum D, Altrock P, Almendro V, Michor F, Polyak K . Non-cell-autonomous driving of tumour growth supports sub-clonal heterogeneity. Nature. 2014; 514(7520):54-8. PMC: 4184961. DOI: 10.1038/nature13556. View

Gao R, Davis A, McDonald T, Sei E, Shi X, Wang Y . Punctuated copy number evolution and clonal stasis in triple-negative breast cancer. Nat Genet. 2016; 48(10):1119-30. PMC: 5042845. DOI: 10.1038/ng.3641. View

Murugaesu N, Wilson G, Birkbak N, Watkins T, McGranahan N, Kumar S . Tracking the genomic evolution of esophageal adenocarcinoma through neoadjuvant chemotherapy. Cancer Discov. 2015; 5(8):821-831. PMC: 4529488. DOI: 10.1158/2159-8290.CD-15-0412. View

Gerlinger M, Rowan A, Horswell S, Math M, Larkin J, Endesfelder D . Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012; 366(10):883-892. PMC: 4878653. DOI: 10.1056/NEJMoa1113205. View

Morrissy A, Garzia L, Shih D, Zuyderduyn S, Huang X, Skowron P . Divergent clonal selection dominates medulloblastoma at recurrence. Nature. 2016; 529(7586):351-7. PMC: 4936195. DOI: 10.1038/nature16478. View

Willyard C . Cancer therapy: an evolved approach. Nature. 2016; 532(7598):166-8. DOI: 10.1038/532166a. View

Savas P, Teo Z, Lefevre C, Flensburg C, Caramia F, Alsop K . The Subclonal Architecture of Metastatic Breast Cancer: Results from a Prospective Community-Based Rapid Autopsy Program "CASCADE". PLoS Med. 2016; 13(12):e1002204. PMC: 5189956. DOI: 10.1371/journal.pmed.1002204. View

Harbst K, Lauss M, Cirenajwis H, Isaksson K, Rosengren F, Torngren T . Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma. Cancer Res. 2016; 76(16):4765-74. DOI: 10.1158/0008-5472.CAN-15-3476. View

de Bruin E, McGranahan N, Mitter R, Salm M, Wedge D, Yates L . Spatial and temporal diversity in genomic instability processes defines lung cancer evolution. Science. 2014; 346(6206):251-6. PMC: 4636050. DOI: 10.1126/science.1253462. View

10.

Ling S, Hu Z, Yang Z, Yang F, Li Y, Lin P . Extremely high genetic diversity in a single tumor points to prevalence of non-Darwinian cell evolution. Proc Natl Acad Sci U S A. 2015; 112(47):E6496-505. PMC: 4664355. DOI: 10.1073/pnas.1519556112. View

11.

Parker N, Hudson A, Khong P, Parkinson J, Dwight T, Ikin R . Intratumoral heterogeneity identified at the epigenetic, genetic and transcriptional level in glioblastoma. Sci Rep. 2016; 6:22477. PMC: 4778014. DOI: 10.1038/srep22477. View

12.

Sottoriva A, Kang H, Ma Z, Graham T, Salomon M, Zhao J . A Big Bang model of human colorectal tumor growth. Nat Genet. 2015; 47(3):209-16. PMC: 4575589. DOI: 10.1038/ng.3214. View

13.

McGranahan N, Rosenthal R, Hiley C, Rowan A, Watkins T, Wilson G . Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution. Cell. 2017; 171(6):1259-1271.e11. PMC: 5720478. DOI: 10.1016/j.cell.2017.10.001. View

14.

Jamal-Hanjani M, Wilson G, McGranahan N, Birkbak N, Watkins T, Veeriah S . Tracking the Evolution of Non-Small-Cell Lung Cancer. N Engl J Med. 2017; 376(22):2109-2121. DOI: 10.1056/NEJMoa1616288. View

15.

Zhang J, Fujimoto J, Zhang J, Wedge D, Song X, Zhang J . Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing. Science. 2014; 346(6206):256-9. PMC: 4354858. DOI: 10.1126/science.1256930. View

16.

Nik-Zainal S, Alexandrov L, Wedge D, Van Loo P, Greenman C, Raine K . Mutational processes molding the genomes of 21 breast cancers. Cell. 2012; 149(5):979-93. PMC: 3414841. DOI: 10.1016/j.cell.2012.04.024. View

17.

Miyata T, Yasunaga T . Molecular evolution of mRNA: a method for estimating evolutionary rates of synonymous and amino acid substitutions from homologous nucleotide sequences and its application. J Mol Evol. 1980; 16(1):23-36. DOI: 10.1007/BF01732067. View

18.

Wang J, Cazzato E, Ladewig E, Frattini V, Rosenbloom D, Zairis S . Clonal evolution of glioblastoma under therapy. Nat Genet. 2016; 48(7):768-76. PMC: 5627776. DOI: 10.1038/ng.3590. View

19.

Schwarz R, Ng C, Cooke S, Newman S, Temple J, Piskorz A . Spatial and temporal heterogeneity in high-grade serous ovarian cancer: a phylogenetic analysis. PLoS Med. 2015; 12(2):e1001789. PMC: 4339382. DOI: 10.1371/journal.pmed.1001789. View

20.

Alexandrov L, Nik-Zainal S, Wedge D, Campbell P, Stratton M . Deciphering signatures of mutational processes operative in human cancer. Cell Rep. 2013; 3(1):246-59. PMC: 3588146. DOI: 10.1016/j.celrep.2012.12.008. View