[1] Novelli MR, Williamson JA, Tomlinson IP, Elia G, Hodg-son SV, Talbot IC, Bodmer WF, Wright NA. Polyclonal origin of colonic adenomas in an XO/XY patient with FAP. Science, 1996, 272(5265): 1187-1190.[2] Leroi AM, Koufopanou V, Burt A. Cancer selection. Nat Rev Cancer, 2003, 3(3): 226- 231.[3] Gatenby RA, Vincent TL. Application of quantitative models from population biology and evolutionary game theory to tumor therapeutic strategies. Mol Cancer Ther, 2003, 2(9): 919- 927.[4] Marusyk A, Almendro V, Polyak K. Intra-tumour hetero-geneity: a looking glass for cancer? Nat Rev Cancer, 2012, 12(5): 323-334.[5] Longo DL. Tumor heterogeneity and personalized medi-cine. N Engl J Med, 2012, 366(10): 956-957.[6] Shibata D. Cancer. Heterogeneity and tumor history. Science, 2012, 336(6079): 304- 305.[7] Anderson K, Lutz C, van Delft FW, Bateman CM, Guo YP, Colman SM, Kempski H, Moorman AV, Titley I, Swans-bury J, Kearney L, Enver T, Greaves M. Genetic variegation of clonal architecture and propagating cells in leu-kaemia. Nature, 2011, 469(7330): 356-361.[8] Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endes-felder D, Gronroos E, Martinez P, Matthews N, Stewart A, Tarpey P, Varela I, Phillimore B, Begum S, McDonald NQ, Butler A, Jones D, Raine K, Latimer C, Santos CR, No-hadani M, Eklund AC, Spencer-Dene B, Clark G, Pickering L, Stamp G, Gore M, Szallasi Z, Downward J, Futreal PA, Swanton C. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med, 2012, 366(10): 883-892.[9] Ashworth A, Lord CJ, Reis-Filho JS. Genetic interactions in cancer progression and treatment. Cell, 2011, 145(1): 30-38.[10] Menard S, Fortis S, Castiglioni F, Agresti R, Balsari A. HER2 as a prognostic factor in breast cancer. On-cology, 2001, 61(Suppl. 2): 67-72.[11] Jones S, Chen WD, Parmigiani G, Diehl F, Beerenwinkel N, Antal T, Traulsen A, Nowak MA, Siegel C, Velculescu VE, Kinzler KW, Vogelstein B, Willis J, Markowitz SD. Comparative lesion sequencing provides insights into tu-mor evolution. Proc Natl Acad Sci USA, 2008, 105(11): 4283-4288.[12] Ding L, Ellis MJ, Li SQ, Larson DE, Chen K, Wallis JW, Harris CC, McLellan MD, Fulton RS, Fulton LL, Abbott RM, Hoog J, Dooling DJ, Koboldt DC, Schmidt H, Kalicki J, Zhang QY, Chen L, Lin L, Wendl MC, McMichael JF, Magrini VJ, Cook L, McGrath SD, Vickery TL, Appelbaum E, Deschryver K, Davies S, Guintoli T, Crowder R, Tao Y, Snider JE, Smith SM, Dukes AF, Sanderson GE, Pohl CS, Delehaunty KD, Fronick CC, Pape KA, Reed JS, Robinson JS, Hodges JS, Schierding W, Dees ND, Shen D, Locke DP, Wiechert ME, Eldred JM, Peck JB, Oberkfell BJ, Lolofie JT, Du FY, Hawkins AE, O'Laughlin MD, Bernard KE, Cunningham M, Elliott G, Mason MD, Thompson DM Jr, Ivanovich JL, Goodfellow PJ, Perou CM, Weinstock GM, Aft R, Watson M, Ley TJ, Wilson RK, Mardis ER. Genome remodeling in a basal-like breast cancer metastasis and xenograft. Nature, 2010, 464(7291): 999-1005.[13] Yachida S, Jones S, Bozic I, Antal T, Leary R, Fu BJ, Kamiyama M, Hruban RH, Eshleman JR, Nowak MA, Velculescu VE, Kinzler KW, Vogelstein B, Iacob-uzio-Donahue CA. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature, 2010, 467(7319): 1114- 1117.[14] Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, Ritchey JK, Young MA, Lamprecht T, McLellan MD, McMichael JF, Wallis JW, Lu C, Shen D, Harris CC, Dooling DJ, Fulton RS, Fulton LL, Chen K, Schmidt H, Kalicki-Veizer J, Magrini VJ, Cook L, McGrath SD, Vickery TL, Wendl MC, Heath S, Watson MA, Link DC, Tomasson MH, Shannon WD, Payton JE, Kulkarni S, Westervelt P, Walter MJ, Graubert TA, Mardis ER, Wilson RK, DiPersio JF. Clonal evolution in relapsed acute mye-loid leukaemia revealed by whole-genome sequencing. Nature, 2012, 481(7382): 506-510.[15] Pietras A. Cancer stem cells in tumor heterogeneity. Adv Cancer Res, 2011, 112: 255- 281.[16] Campbell LL, Polyak K. Breast tumor heterogeneity: cancer stem cells or clonal evolution? Cell Cycle, 2007, 6(19): 2332-2338.[17] Marusyk A, Polyak K. Tumor heterogeneity: causes and consequences. Biochim Biophys Acta, 2010, 1805(1): 105-117.[18] Durrett R, Foo J, Leder K, Mayberry J, Michor F. Intratumor heterogeneity in evolutionary models of tumor progression. Genetics, 2011, 188(2): 461-477.[19] Lleonart ME, Martin-Duque P, Sanchez-Prieto R, Moreno A, Ramon y Cajal S. Tumor heterogeneity: morphological, molecular and clinical implications. Histol Histopathol, 2000, 15(3): 881-898.[20] Visvader JE, Lindeman GJ. Cancer stem cells: current status and evolving complexities. Cell Stem Cell, 2012, 10(6): 717-728.[21] Hanahan D, Weinberg RA. The hallmarks of cancer. Cell, 2000, 100(1): 57-70.[22] Torres L, Ribeiro FR, Pandis N, Andersen JA, Heim S, Teixeira MR. Intratumor genomic heterogeneity in breast cancer with clonal divergence between primary carcinomas and lymph node metastases. Breast Cancer Res Treat, 2007, 102(2): 143-155.[23] Bissig H, Richter J, Desper R, Meier V, Schraml P, Schaffer AA, Sauter G, Mihatsch MJ, Moch H. Evaluation of the clonal relationship between primary and metastatic renal cell carcinoma by comparative genomic hybridiza-tion. Am J Pathol, 1999, 155(1): 267-274.[24] Cheng L, Bostwick DG, Li G, Wang Q, Hu N, Vortmeyer AO, Zhuang Z. Allelic imbalance in the clonal evolution of prostate carcinoma. Cancer, 1999, 85(9): 2017-2022.[25] Kuukasjarvi T, Karhu R, Tanner M, Kähkonen M, Schäffer A, Nupponen N, Pennanen S, Kallioniemi A, Kallioniemi OP, Isola J. Genetic heterogeneity and clonal evolution underlying development of asynchronous metastasis in human breast cancer. Cancer Res, 1997, 57(8): 1597-1604.[26] Ramaswamy S, Ross KN, Lander ES, Golub TR. A molecular signature of metastasis in primary solid tumors. Nat Genet, 2003, 33(1): 49-54.[27] Weigelt B, Glas AM, Wessels LF, Witteveen AT, Peterse JL, van't Veer LJ. Gene expression profiles of primary breast tumors maintained in distant metastases. Proc Natl Acad Sci USA, 2003, 100(26): 15901-15905.[28] Weigelt B, Hu ZY, He XP, Livasy C, Carey LA, Ewend MG, Glas AM, Perou CM, Van't Veer LJ. Molecular portraits and 70-gene prognosis signature are preserved throughout the metastatic process of breast cancer. Cancer Res, 2005, 65(20): 9155-9158.[29] Liu WN, Laitinen S, Khan S, Vihinen M, Kowalski J, Yu GQ, Chen L, Ewing CM, Eisenberger MA, Carducci MA, Nelson WG, Yegnasubramanian S, Luo J, Wang Y, Xu JF, Isaacs WB, Visakorpi T, Bova GS. Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer. Nat Med, 2009, 15(5): 559-565.[30] Macintosh CA, Stower M, Reid N, Maitland NJ. Precise microdissection of human prostate cancers reveals geno-typic heterogeneity. Cancer Res, 1998, 58(1): 23-28.[31] Alvarado C, Beitel LK, Sircar K, Aprikian A, Trifiro M, Gottlieb B. Somatic mosaicism and cancer: a micro-genetic examination into the role of the androgen receptor gene in prostate cancer. Cancer Res, 2005, 65(18): 8514-8518.[32] Robbins CM, Tembe WA, Baker A, Sinari S, Moses TY, Beckstrom-Sternberg S, Beckstrom-Sternberg J, Barrett M, Long J, Chinnaiyan A, Lowey J, Suh E, Pearson JV, Craig DW, Agus DB, Pienta KJ, Carpten JD. Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors. Genome Res, 2011, 21(1): 47-55.[33] Shah SP, Morin RD, Khattra J, Prentice L, Pugh T, Burleigh A, Delaney A, Gelmon K, Guliany R, Senz J, Steidl C, Holt RA, Jones S, Sun M, Leung G, Moore R, Severson T, Taylor GA, Teschendorff AE, Tse K, Turashvili G, Varhol R, Warren RL, Watson P, Zhao YJ, Caldas C, Huntsman D, Hirst M, Marra MA, Aparicio S. Mutational evo-lution in a lobular breast tumour profiled at single nucleo-tide resolution. Nature, 2009, 461(7265): 809-813.[34] Klein CA, Schmidt-Kittler O, Schardt JA, Pantel K, Speicher MR, Riethmuller G. Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells. Proc Natl Acad Sci USA, 1999, 96(8): 4494-4499.[35] Husemann Y, Geigl JB, Schubert F, Musiani P, Meyer M, Burghart E, Forni G, Eils R, Fehm T, Riethmuller G, Klein CA. Systemic spread is an early step in breast cancer. Cancer Cell, 2008, 13(1): 58-68.[36] Klein CA, Blankenstein TJ, Schmidt-Kittler O, Petronio M, Polzer B, Stoecklein NH, Riethmuller G. Genetic hetero-geneity of single disseminated tumour cells in minimal re-sidual cancer. Lancet, 2002, 360(9334): 683-689.[37] Bedenne L, Michel P, Bouche O, Milan C, Mariette C, Conroy T, Pezet D, Roullet B, Seitz JF, Herr JP, Paillot B, Arveux P, Bonnetain F, Binquet C. Chemoradiation followed by surgery compared with chemoradiation alone in squamous cancer of the esophagus: FFCD 9102. J Clin Oncol, 2007, 25(10): 1160-1168.[38] Wu JM, Halushka MK, Argani P. Intratumoral heterogeneity of HER-2 gene amplification and protein overexpression in breast cancer. Hum Pathol, 41(6): 914-917.[39] Arteaga CL, Baselga J. Tyrosine kinase inhibitors: why does the current process of clinical development not apply to them? Cancer Cell, 2004, 5(6): 525-531.[40] Tomlinson IP, Lambros MB, Roylance RR. Loss of heterozygosity analysis: practically and conceptually flawed? Genes Chromosomes Cancer, 2002, 34(4): 349-353.[41] Shipitsin M, Campbell LL, Argani P, Weremowicz S, Bloushtain-Qimron N, Yao J, Nikolskaya T, Serebryiskaya T, Beroukhim R, Hu M, Halushka MK, Sukumar S, Parker LM, Anderson KS, Harris LN, Garber JE, Richardson AL, Schnitt SJ, Nikolsky Y, Gelman RS, Polyak K. Molecular definition of breast tumor heterogeneity. Cancer Cell, 2007, 11(3): 259-273.[42] Mora J, Cheung NK, Gerald WL. Genetic heterogeneity and clonal evolution in neuroblastoma. Br J Cancer, 2001, 85(2): 182-189.[43] Maley CC, Galipeau PC, Finley JC, Wongsurawat VJ, Li XH, Sanchez CA, Paulson TG, Blount PL, Risques RA, Rabinovitch PS, Reid BJ. Genetic clonal diversity predicts progression to esophageal adenocarcinoma. Nat Genet, 2006, 38(4): 468-473.[44] Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, Pollack JR, Ross DT, Johnsen H, Akslen LA, Fluge O, Pergamenschikov A, Williams C, Zhu SX, Lon-ning PE, Borresen-Dale AL, Brown PO, Botstein D. Molecular portraits of human breast tumours. Nature, 2000, 406(6797): 747-752.[45] Yang YL, Fan Y, Lang RG, Gu F, Ren MJ, Zhang XM, Yin D, Fu L. Genetic heterogeneity of HER2 in breast cancer: impact on HER2 testing and its clinicopathologic significance. Breast Cancer Res Treat, 2012, 134(3): 1095-1102.[46] Seol H, Lee HJ, Choi Y, Lee HE, Kim YJ, Kim JH, Kang E, Kim SW, Park SY. Intratumoral heterogeneity of HER2 gene amplification in breast cancer: its clinicopathological significance. Mod Pathol, 2012, 25(7): 938-948.[47] Vance GH, Barry TS, Bloom KJ, Fitzgibbons PL, Hicks DG, Jenkins RB, Persons DL, Tubbs RR, Hammond ME. Genetic heterogeneity in HER2 testing in breast cancer: panel summary and guidelines. Arch Pathol Lab Med, 2009, 133(4): 611-612.[48] Campbell PJ, Pleasance ED, Stephens PJ, Dicks E, Rance R, Goodhead I, Follows GA, Green AR, Futreal PA, Stratton MR. Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing. Proc Natl Acad Sci USA, 2008, 105(35): 13081-13086.[49] Mullighan CG, Phillips LA, Su XP, Ma J, Miller CB, Shurtleff SA, Downing JR. Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science, 2008, 322(5906): 1377-1380.[50] Houldsworth J, Chaganti RS. Comparative genomic hybridization: an overview. Am J Pathol, 1994, 145(6): 1253-1260.[51] Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet, 2004, 36(3): 299-303.[52] Navin N, Kendall J, Troge J, Andrews P, Rodgers L, McIndoo J, Cook K, Stepansky A, Levy D, Esposito D, Muthuswamy L, Krasnitz A, McCombie WR, Hicks J, Wigler M. Tumour evolution inferred by single-cell sequencing. Nature, 2011, 472(7341): 90-94.[53] Hou Y, Song LT, Zhu P, Zhang B, Tao Y, Xu X, Li FQ, Wu K, Liang J, Shao D, Wu HJ, Ye XF, Ye C, Wu RH, Jian M, Chen Y, Xie W, Zhang RR, Chen L, Liu X, Yao XT, Zheng HC, Yu C, Li QB, Gong ZL, Mao M, Yang X, Yang L, Li JX, Wang W, Lu ZH, Gu N, Laurie G, Bolund L, Kristiansen K, Wang J, Yang HM, Li YR, Zhang XQ, Wang J. Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell, 2012, 148(5): 873-885.[54] Xu X, Hou Y, Yin XY, Bao L, Tang A, Song LT, Li FQ, Tsang S, Wu K, Wu HJ, He WM, Zeng L, Xing MJ, Wu RH, Jiang H, Liu X, Cao DD, Guo GW, Hu XD, Gui YT, Li ZS, Xie WY, Sun XJ, Shi M, Cai ZM, Wang B, Zhong MM, Li JX, Lu ZH, Gu N, Zhang XQ, Goodman L, Bolund L, Wang J, Yang HM, Kristiansen K, Dean M, Li YR, Wang J. Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell, 2012, 148(5): 886-895. |