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The Origin and Evolution of Mutations in Acute Myeloid Leukemia
Open accessAbstract
Most mutations in cancer genomes are thought to be acquired after the initiating event, which may cause genomic instability and drive clonal evolution. However, for acute myeloid leukemia (AML), normal karyotypes are common, and genomic instability is unusual. To better understand clonal evolution in AML, we sequenced the genomes of M3-AML samples with a known initiating event (PML-RARA) versus the genomes of normal karyotype M1-AML samples and the exomes of hematopoietic stem/progenitor cells (HSPCs) from healthy people. Collectively, the data suggest that most of the mutations found in AML genomes are actually random events that occurred in HSPCs before they acquired the initiating mutation; the mutational history of that cell is "captured" as the clone expands. In many cases, only one or two additional, cooperating mutations are needed to generate the malignant founding clone. Cells from the founding clone can acquire additional cooperating mutations, yielding subclones that can contribute to disease progression and/or relapse.
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“Mice lacking Msh2, the key component of both the MutSα and MutSβ complexes that mediate DNA MMR, display a genetic phenotype that closely mimics the spectrum of mutations found in aging human HSCs and in patients with myeloid leukemia (transition mutations and small insertions and deletions) 26, 27.”
From Minimal PU.1 reduction induces a preleukemic state and promotes development of acute myeloid leukemia (2015) · cites this paper as [27]
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“Recent studies in patients with AML have confirmed the functional importance and clinical significance of preleukemic stem cell populations as the cellular origin of leukemia-initiating cells in human disease27, 48.”
From Minimal PU.1 reduction induces a preleukemic state and promotes development of acute myeloid leukemia (2015) · cites this paper as [27]
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“The study of somatic mutations with standard whole-genome sequencing requires isolating clonal groups of cells recently derived from a single cell8,13,14.”
From Somatic mutation rates scale with lifespan across mammals (2022) · cites this paper as [13]
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“Hematopoietic stem cells (HSCs) randomly acquire somatic mutations with age (1).”
From Txnip Enhances Fitness of Dnmt3a -Mutant Hematopoietic Stem Cells via p21 (2022) · cites this paper as [1]
In the citing paper
“Interestingly, during human aging, mutations accumulate in the genome of blood cells and C-to-T mutations are the most prevalent (Welch et al., 2012).”
From The Aging Epigenome (2016) · cites this paper as Welch et al., 2012
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“As each HSC acquires ~1 exonic mutation per decade of life 3,”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
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“Like most cancers, AML generally results from several driver mutations that occur sequentially in the same clone over time 3.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
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“Aging is associated with a steady increase in the number of somatic mutations in virtually all tissues 1–5.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
In the citing paper
“We recently reported that individual HSPCs accumulate somatic mutations as a function of age, such that by age 50, there are on average 5 coding gene mutations per HSPC11.”
From Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia (2015) · cites this paper as [11]
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Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Trapnell, C., Williams, B. A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M. J., Salzberg, S. L., Wold, B. J., & Pachter, L. (2010) · Nature Biotechnology · doi:10.1038/nbt.1621 · Cited by 15,556
Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
TopHat: discovering splice junctions with RNA-Seq
Trapnell, C., Pachter, L. S., & Salzberg, S. L. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp120 · Cited by 11,682
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Nowell, P. C. (1976) · Science · doi:10.1126/science.959840 · Cited by 6,471
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencingPreprint
Koboldt, D. C., Zhang, Q., Larson, D. E., Shen, D., McLellan, M. D., Lin, L., Miller, C. A., Mardis, E. R., Ding, L., & Wilson, R. K. (2012) · Genome Research · doi:10.1101/gr.129684.111 · Cited by 4,954
Self-citationRecurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219
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- Ding, L., Ley, T.J., Larson, D.E., Miller, C.A., Koboldt, D.C., Welch, J.S., Ritchey, J.K., Young, M.A., Lamprecht, T., McLellan, M.D., et al. (2012). Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 481, 506–510. · DOI · Paper page
- Larson, D.E., Harris, C.C., Chen, K., Koboldt, D.C., Abbott, T.E., Dooling, D.J., Ley, T.J., Mardis, E.R., Wilson, R.K., and Ding, L. (2012). SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics 28, 311–317. · DOI
- Ley, T.J., Mardis, E.R., Ding, L., Fulton, B., McLellan, M.D., Chen, K., Dooling, D., Dunford-Shore, B.H., McGrath, S., Hickenbotham, M., et al. (2008). DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66–72. · DOI
- Mardis, E.R., Ding, L., Dooling, D.J., Larson, D.E., McLellan, M.D., Chen, K., Koboldt, D.C., Fulton, R.S., Delehaunty, K.D., McGrath, S.D., et al. (2009). Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361, 1058–1066. · DOI · Paper page
Cited by
Sorted by citations
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., & Kinzler, K. W. (2013) · Science · doi:10.1126/science.1235122 · Cited by 7,863
Döhner, H., Estey, E. H., Grimwade, D. J., Amadori, S., Appelbaum, F. R., Büchner, T., Dombret, H., Ebert, B. L., Fenaux, P., Larson, R. A., et al. (2016) · Blood · doi:10.1182/blood-2016-08-733196 · Cited by 5,938
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
Mutational landscape and significance across 12 major cancer types
Kandoth, C., McLellan, M. D., Vandin, F., Ye, K., Niu, B., Lu, C., Xie, M., Zhang, Q., McMichael, J. F., Wyczalkowski, M. A., et al. (2013) · Nature · doi:10.1038/nature12634 · Cited by 4,419
Self-citationGenomic classification and prognosis in acute myeloid leukemia
Papaemmanuil, E., Gerstung, M., Bullinger, L., Gaidzik, V. I., Paschka, P., Roberts, N. D., Potter, N. E., Heuser, M., Thol, F., Bolli, N., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1516192 · Cited by 4,350
Pan-cancer analysis of whole genomes
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature · doi:10.1038/s41586-020-1969-6 · Cited by 3,064
The causes and consequences of genetic heterogeneity in cancer evolution
Burrell, R. A., McGranahan, N., Bartek, J., & Swanton, C. (2013) · Nature · doi:10.1038/nature12625 · Cited by 2,262
Evolution of the Cancer Stem Cell Model
Kreso, A., & Dick, J. E. (2014) · Cell stem cell · doi:10.1016/j.stem.2014.02.006 · Cited by 2,304
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes
Steensma, D. P., Bejar, R., Jaiswal, S., Lindsley, R. C., Sekeres, M. A., Hasserjian, R. P., & Ebert, B. L. (2015) · Blood · doi:10.1182/blood-2015-03-631747 · Cited by 1,971
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., McMichael, J. F., Schmidt, H. K., Yellapantula, V., Miller, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3733 · Cited by 1,874
Self-citationClinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832
High burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
Haferlach, T., Nagata, Y., Grossmann, V, Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., et al. (2014) · Leukemia · doi:10.1038/leu.2013.336 · Cited by 1,532
Universal Patterns of Selection in Cancer and Somatic Tissues
Martincorena, I., Raine, K. M., Gerstung, M., Dawson, K. J., Haase, K., Van Loo, P., Davies, H., Stratton, M. R., & Campbell, P. J. (2017) · Cell · doi:10.1016/j.cell.2017.09.042 · Cited by 1,523
Kadoch, C., Hargreaves, D. C., Hodges, H. C., Elias, L., Ho, L., Ranish, J. A., & Crabtree, G. R. (2013) · Nature Genetics · doi:10.1038/ng.2628 · Cited by 1,493
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
Landau, D. A., Carter, S. L., Stojanov, P., McKenna, A., Stevenson, K., Lawrence, M. S., Sougnez, C., Stewart, C., Sivachenko, A., Wang, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.019 · Cited by 1,379
Clonal hematopoiesis in human aging and disease
Jaiswal, S., & Ebert, B. L. (2019) · Science · doi:10.1126/science.aan4673 · Cited by 1,156
“approximately one protein-coding mutation per decade of life (3).”
The evolutionary history of 2,658 cancers
Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature · doi:10.1038/s41586-019-1907-7 · Cited by 1,057
Clock-like mutational processes in human somatic cells
Alexandrov, L. B., Jones, P. H., Wedge, D. C., Sale, J. E., Campbell, P. J., Nik‐Zainal, S., & Stratton, M. R. (2015) · Nature Genetics · doi:10.1038/ng.3441 · Cited by 1,065
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia
Wong, T. N., Ramsingh, G., Young, A. L., Miller, C. A., Touma, W., Welch, J. S., Lamprecht, T. L., Shen, D., Hundal, J., Fulton, R. S., et al. (2015) · Nature · doi:10.1038/nature13968 · Cited by 892
Self-citationHeterogeneity of genomic evolution and mutational profiles in multiple myeloma
Bolli, N., Avet-Loiseau, H., Wedge, D. C., Van Loo, P., Alexandrov, L. B., Martincorena, I., Dawson, K. J., Iorio, F., Nik-Zainal, S., Bignell, G. R., et al. (2014) · Nature Communications · doi:10.1038/ncomms3997 · Cited by 875
p53: 800 million years of evolution and 40 years of discovery
Levine, A. J. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0262-1 · Cited by 876
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
Jones, D., Hutter, B., Jäger, N., Korshunov, A., Kool, M., Warnatz, H.-J., Zichner, T., Lambert, S. R., Ryzhova, M. V., Khuong-Quang, D.-A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2682 · Cited by 837
Short, N. J., Rytting, M., & Cortes, J. E. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31041-9 · Cited by 862
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Zink, F., Stacey, S. N., Norddahl, G. L., Frigge, M. L., Magnusson, O. T., Jonsdottir, I., Thorgeirsson, T. E., Sigurdsson, A., Gudjonsson, S. A., Gudmundsson, J., et al. (2017) · Blood · doi:10.1182/blood-2017-02-769869 · Cited by 777
Tzelepis, K., Koike-Yusa, H., De Braekeleer, E., Li, Y., Metzakopian, E., Dovey, O. M., Mupo, A., Grinkevich, V., Li, M., Mazan, M., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.09.079 · Cited by 761
Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition
Kool, M., Jones, D., Jäger, N., Northcott, P. A., Pugh, T. J., Hovestadt, V., Piro, R. M., Esparza, L. A., Markant, S. L., Remke, M., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.02.004 · Cited by 756
Cancer therapy shapes the fitness landscape of clonal hematopoiesis
Bolton, K. L., Ptashkin, R. N., Gao, T., Braunstein, L., Devlin, S. M., Kelly, D., Patel, M., Berthon, A., Syed, A., Yabe, M., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-00710-0 · Cited by 751
The landscape of somatic mutation in normal colorectal epithelial cells
Lee-Six, H., Olafsson, S., Ellis, P., Osborne, R. J., Sanders, M. A., Moore, L., Georgakopoulos, N., Torrente, F., Noorani, A., Goddard, M., et al. (2019) · Nature · doi:10.1038/s41586-019-1672-7 · Cited by 747
Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia
Jan, M., Snyder, T. M., Corces-Zimmerman, M. R., Vyas, P., Weissman, I. L., Quake, S. R., & Majeti, R. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004315 · Cited by 721
Corces-Zimmerman, M. R., Hong, W.-J., Weissman, I. L., Medeiros, B. C., & Majeti, R. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1324297111 · Cited by 705
Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
Young, A. L., Challen, G. A., Birmann, B. M., & Druley, T. E. (2016) · Nature Communications · doi:10.1038/ncomms12484 · Cited by 692
The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia
Sperling, A. S., Gibson, C. J., & Ebert, B. L. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.112 · Cited by 706
Replication stress is a potent driver of functional decline in ageing haematopoietic stem cells
Flach, J., Bakker, S. T., Mohrin, M., Conroy, P. C., Pietras, E. M., Reynaud, D., Alvarez, S., Diolaiti, M. E., Ugarte, F., Forsberg, E. C., et al. (2014) · Nature · doi:10.1038/nature13619 · Cited by 650
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
Yoshizato, T., Dumitriu, B., Hosokawa, K., Makishima, H., Yoshida, K., Townsley, D., Sato-Otsubo, A., Sato, Y., Liu, D., Suzuki, H., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414799 · Cited by 646
Evolution of the cancer genome
Yates, L. R., & Campbell, P. J. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3317 · Cited by 682
Li, S., Shen, D., Shao, J., Crowder, R. J., Liu, W., Prat, A., He, X., Liu, S., Hoog, J., Lu, C., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.08.022 · Cited by 637
Self-citationPopulation dynamics of normal human blood inferred from somatic mutations
Lee-Six, H., Øbro, N. F., Shepherd, M. S., Grossmann, S., Dawson, K., Belmonte, M., Osborne, R. J., Huntly, B. J. P., Martincorena, I., Anderson, E., et al. (2018) · Nature · doi:10.1038/s41586-018-0497-0 · Cited by 604
Genetics of Follicular Lymphoma Transformation
Pasqualucci, L., Khiabanian, H., Fangazio, M., Vasishtha, M., Messina, M., Holmes, A. B., Ouillette, P. D., Trifonov, V. A., Rossi, D., Tabbò, F., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2013.12.027 · Cited by 587
Genomics of Acute Myeloid Leukemia Diagnosis and Pathways
Bullinger, L., Döhner, K., & Döhner, H. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2016.71.2208 · Cited by 570
Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
Salk, J. J., Schmitt, M. W., & Loeb, L. A. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.117 · Cited by 551
IDH mutations in cancer and progress toward development of targeted therapeutics
Dang, L., Yen, K., & Attar, E. C. (2016) · Annals of Oncology · doi:10.1093/annonc/mdw013 · Cited by 509
DNMT3A in haematological malignancies
Yang, L., Rau, R. E., & Goodell, M. A. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3895 · Cited by 525
Somatic mutation landscapes at single-molecule resolution
Abascal, F., Harvey, L. M. R., Mitchell, E., Lawson, A. R. J., Lensing, S. V., Ellis, P., Russell, A. J. C., Alcantara, R. E., Baez-Ortega, A., Wang, Y., et al. (2021) · Nature · doi:10.1038/s41586-021-03477-4 · Cited by 546
Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal
Mitchell, T. J., Turajlic, S., Rowan, A., Nicol, D. L., Farmery, J. H. R., O’Brien, T., Martincorena, I., Tarpey, P. S., Angelopoulos, N., Yates, L. R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.020 · Cited by 522
Clonal dynamics of haematopoiesis across the human lifespan
Mitchell, E., Chapman, M. S., Williams, N., Dawson, K. J., Mende, N., Calderbank, E. F., Jung, H., Mitchell, T. J., Coorens, T. H. H., Spencer, D. H., et al. (2022) · Nature · doi:10.1038/s41586-022-04786-y · Cited by 538
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500
Booth, L. N., & Brunet, A. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.05.013 · Cited by 499
Epigenetic Therapies for Cancer
Bates, S. E. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1805035 · Cited by 503
Gill, S. I., Tasian, S. K., Ruella, M., Shestova, O. E., Li, Y., Porter, D. L., Carroll, M. P., Danet-Desnoyers, G. A., Scholler, J., Grupp, S. A., et al. (2014) · Blood · doi:10.1182/blood-2013-09-529537 · Cited by 498
Emerging patterns of somatic mutations in cancer
Watson, I. R., Takahashi, K., Futreal, P. A., & Chin, L. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3539 · Cited by 497
Somatic mutation rates scale with lifespan across mammals
Cagan, A., Baez-Ortega, A., Brzozowska, N., Abascal, F., Coorens, T. H. H., Sanders, M. A., Lawson, A. R. J., Harvey, L. M. R., Bhosle, S., Jones, D., et al. (2022) · Nature · doi:10.1038/s41586-022-04618-z · Cited by 481
Guo, G., Sun, X., Chen, C., Wu, S., Huang, P., Li, Z., Dean, M. C., Huang, Y. F., Jia, W., Zhou, Q., et al. (2013) · Nature Genetics · doi:10.1038/ng.2798 · Cited by 479
Differentiation therapy revisited
de Thé, H. (2018) · Nature reviews. Cancer · doi:10.1038/nrc.2017.103 · Cited by 462
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
Kamps, R., Brandão, R. D., van den Bosch, B. J. C., Paulussen, A. D. C., Xanthoulea, S., Blok, M. J., & Romano, A. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18020308 · Cited by 472
Russler-Germain, D. A., Spencer, D. H., Young, M. A., Lamprecht, T. L., Miller, C. A., Fulton, R., Meyer, M. R., Erdmann-Gilmore, P., Townsend, R. R., Wilson, R. K., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.02.010 · Cited by 452
Self-citationMolecular landscape of acute myeloid leukemia in younger adults and its clinical relevance
Grimwade, D. J., Ivey, A., & Huntly, B. J. P. (2015) · Blood · doi:10.1182/blood-2015-07-604496 · Cited by 475
Early stage NSCLC — challenges to implementing ctDNA-based screening and MRD detection
Abbosh, C., Birkbak, N. J., & Swanton, C. (2018) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-018-0058-3 · Cited by 451
Clonal Hematopoiesis and Evolution to Hematopoietic Malignancies
Bowman, R. L., Busque, L., & Levine, R. L. (2018) · Cell stem cell · doi:10.1016/j.stem.2018.01.011 · Cited by 448
McMahon, C. M., Ferng, T., Canaani, J., Wang, E. S., Morrissette, J. J. D., Eastburn, D. J., Pellegrino, M., Durruthy-Durruthy, R., Watt, C. D., Asthana, S., et al. (2019) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-1453 · Cited by 446
Miller, C. A., White, B. S., Dees, N. D., Griffith, M., Welch, J. S., Griffith, O. L., Vij, R., Tomasson, M. H., Graubert, T. A., Walter, M. J., et al. (2014) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003665 · Cited by 461
Self-citationThe genetics and mechanisms of T cell acute lymphoblastic leukaemia
Belver, L., & Ferrando, A. A. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.63 · Cited by 460
Landscape Of Genetic Lesions In 944 Patients With Myelodysplastic Syndromes
Nagata, Y., Grossmann, V., Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Shiozawa, Y., Kon, A., Alpermann, T., Yoshida, K., et al. (2013) · Blood · doi:10.1182/blood.v122.21.521.521 · Cited by 430
Targeting epigenetic modifications in cancer therapy: erasing the roadmap to cancer
Mohammad, H. P., Barbash, O., & Creasy, C. L. (2019) · Nature Medicine · doi:10.1038/s41591-019-0376-8 · Cited by 427
Normal and Leukemic Stem Cell Niches: Insights and Therapeutic Opportunities
Schepers, K., Campbell, T., & Passegue, E. A. (2015) · Cell stem cell · doi:10.1016/j.stem.2015.02.014 · Cited by 431
Tomasetti, C., Vogelstein, B., & Parmigiani, G. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221068110 · Cited by 425
Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes
Tubio, J. M. C., Li, Y., Ju, Y. S., Martincorena, I., Cooke, S. L., Tojo, M., Gundem, G., Pipinikas, C. P., Zamora, J., Raine, K., et al. (2014) · Science · doi:10.1126/science.1251343 · Cited by 412
Hypermutation in human cancer genomes: footprints and mechanisms
Roberts, S. A., & Gordenin, D. A. (2014) · Nature reviews. Cancer · doi:10.1038/nrc3816 · Cited by 403
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics
Morita, K., Wang, F., Jahn, K., Hu, T., Tanaka, T. N., Sasaki, Y., Kuipers, J., Loghavi, S., Wang, S. A., Yan, Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19119-8 · Cited by 411
Functional Heterogeneity of Genetically Defined Subclones in Acute Myeloid Leukemia
Klco, J. M., Spencer, D. H., Miller, C. A., Griffith, M., Westover, T., O’Laughlin, M. D., Fronick, C. C., Magrini, V. J., Demeter, R., Fulton, R. S., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.01.031 · Cited by 410
Self-citationDNA methyltransferases and their roles in tumorigenesis
Zhang, W., & Xu, J. (2017) · Biomarker Research · doi:10.1186/s40364-017-0081-z · Cited by 396
Clonal haematopoiesis: connecting ageing and inflammation in cardiovascular disease
Jaiswal, S., & Libby, P. (2020) · Nature Reviews Cardiology · doi:10.1038/s41569-019-0247-5 · Cited by 386
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
Kon, A., Shih, L., Minamino, M., Sanada, M., Shiraishi, Y., Nagata, Y., Yoshida, K., Okuno, Y., Bando, M., Nakato, R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2731 · Cited by 396
Buscarlet, M., Provost, S., Zada, Y. F., Barhdadi, A., Bourgoin, V., Lépine, G., Mollica, L., Szuber, N., Dubé, M.-P., & Busque, L. (2017) · Blood · doi:10.1182/blood-2017-04-777029 · Cited by 383
Obeng, E. A., Chappell, R. J., Seiler, M., Chen, M. C., Campagna, D. R., Schmidt, P. J., Schneider, R. K., Lord, A. M., Wang, L., Gambe, R. G., et al. (2016) · Cancer Cell · doi:10.1016/j.ccell.2016.08.006 · Cited by 380
Heterogeneity of epidermal growth factor receptor signalling networks in glioblastoma
Furnari, F. B., Cloughesy, T. F., Cavenee, W. K., & Mischel, P. S. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3918 · Cited by 389
The landscape of somatic mutations in Down syndrome–related myeloid disorders
Yoshida, K., Toki, T., Okuno, Y., Kanezaki, R., Shiraishi, Y., Sato‐Otsubo, A., Sanada, M., Park, M.-J., Terui, K., Suzuki, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2759 · Cited by 393
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Zhang, M. Y., Churpek, J. E., Keel, S., Walsh, T., Lee, M. K., Loeb, K. R., Gülsüner, S., Pritchard, C. C., Sánchez-Bonilla, M., Delrow, J. J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3177 · Cited by 376
Distribution and levels of cell surface expression of CD33 and CD123 in acute myeloid leukemia
Ehninger, A., Krämer, M., Röllig, C., Thiede, C., Bornhäuser, M., Bonin, M. V., Wermke, M., Feldmann, A., Bachmann, M. P., Ehninger, G., et al. (2014) · Blood Cancer Journal · doi:10.1038/bcj.2014.39 · Cited by 352
Yadav, B., Pemovska, T., Szwajda, A., Kulesskiy, E., Kontro, M., Karjalainen, R., Majumder, M. M., Malani, D., Murumägi, A., Knowles, J., et al. (2014) · Scientific Reports · doi:10.1038/srep05193 · Cited by 358
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz‐Gay, M., Wu, Y., Barnes, M. D., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 364
Goodell, M. A., & Rando, T. A. (2015) · Science · doi:10.1126/science.aab3388 · Cited by 347
The genetic basis of myelodysplasia and its clinical relevance
Cazzola, M., Porta, M. G. D., & Malcovati, L. (2013) · Blood · doi:10.1182/blood-2013-09-381665 · Cited by 355
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
Westcott, P. M. K., Halliwill, K. D., To, M. D., Rashid, M., Rust, A. G., Keane, T., Delrosario, R., Jen, K., Gurley, K. E., Kemp, C. J., et al. (2014) · Nature · doi:10.1038/nature13898 · Cited by 338
Causes and Consequences of Hematopoietic Stem Cell Heterogeneity
Haas, S. F., Trumpp, A., & Milsom, M. D. (2018) · Cell stem cell · doi:10.1016/j.stem.2018.04.003 · Cited by 362
Extensive heterogeneity in somatic mutation and selection in the human bladder
Lawson, A. R. J., Abascal, F., Coorens, T. H. H., Hooks, Y., O’Neill, L., Latimer, C., Raine, K., Sanders, M. A., Warren, A. Y., Mahbubani, K. T. A., et al. (2020) · Science · doi:10.1126/science.aba8347 · Cited by 311
Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting
He, J., Abdel-Wahab, O. I., Nahas, M. K., Wang, K., Rampal, R. K., Intlekofer, A. M., Patel, J. L., Krivstov, A. V., Frampton, G. M., Young, L. E., et al. (2016) · Blood · doi:10.1182/blood-2015-08-664649 · Cited by 309
Mutant Cohesin in Premature Ovarian Failure
Caburet, S., Arboleda, V. A., Llano, E., Overbeek, P. A., Barbero, J. L., Oka, K., Harrison, W. R., Vaiman, D., Ben‐Neriah, Z., García‐Tuñón, I., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1309635 · Cited by 303
WT1 Recruits TET2 to Regulate Its Target Gene Expression and Suppress Leukemia Cell Proliferation
Wang, Y., Xiao, M., Chen, X., Chen, L., Xu, Y., Lv, L., Wang, P., Yang, H., Ma, S., Lin, H., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2014.12.023 · Cited by 320
Molecular biomarkers in acute myeloid leukemia
Prada‐Arismendy, J., Arroyave-Ospina, J. C., & Röthlisberger, S. (2016) · Blood Reviews · doi:10.1016/j.blre.2016.08.005 · Cited by 317
Implementing personalized cancer genomics in clinical trials
Simon, R. M., & Roychowdhury, S. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd3979 · Cited by 309
How I treat refractory and early relapsed acute myeloid leukemia
Thol, F. R., Schlenk, R. F., Heuser, M., & Ganser, A. (2015) · Blood · doi:10.1182/blood-2014-10-551911 · Cited by 307
Bandyopadhyay, S., Duffy, M. P., Ahn, K. J., Sussman, J. H., Pang, M., Smith, D., Duncan, G., Zhang, I., Huang, J., Lin, Y., et al. (2024) · Cell · doi:10.1016/j.cell.2024.04.013 · Cited by 300
Marnell, C. S., Bick, A. G., & Natarajan, P. (2021) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2021.07.004 · Cited by 313
Acute Promyelocytic Leukemia: A Paradigm for Oncoprotein-Targeted Cure
de Thé, H., Pandolfi, P. P., & Chen, Z. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.10.002 · Cited by 307
Midostaurin approved for FLT3-mutated AML
Levis, M. J. (2017) · Blood · doi:10.1182/blood-2017-05-782292 · Cited by 300
Metadata
- Authors
- Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., Kandoth, C., Fulton, R. S., McLellan, M. D., Dooling, D. J., Wallis, J. W., Chen, K., Harris, C. C., Schmidt, H. K., Kalicki-Veizer, J. M., Lu, C., Zhang, Q., Lin, L., O’Laughlin, M. D., McMichael, J. F., Delehaunty, K. D., Fulton, L. A., Magrini, V. J., McGrath, S. D., Demeter, R. T., Vickery, T. L., Hundal, J., Cook, L. L., Swift, G. W., Reed, J. P., Alldredge, P. A., Wylie, T. N., Walker, J. R., Watson, M. A., Heath, S. E., Shannon, W. D., Varghese, N., Nagarajan, R., Payton, J. E., Baty, J. D., Kulkarni, S., Klco, J. M., Tomasson, M. H., Westervelt, P., Walter, M. J., Graubert, T. A., DiPersio, J. F., Ding, L., Mardis, E. R., & Wilson, R. K.
- Affiliations
- Washington University in St. Louis (US)
- The University of Texas MD Anderson Cancer Center (US)
- Corresponding author
- Ley, Timothy J.
- ORCID
- Welch, John S.
- Ley, Timothy J.
- Link, Daniel C.
- Miller, Christopher A.
- Larson, David E.
- Koboldt, Daniel C.
- Wartman, Lukas D.
- Liu, Fulu
- Xia, Jun
- Kandoth, Cyriac
- Fulton, Robert S.
- McLellan, Michael D.
- Chen, Ken
- Lu, Charles
- Lin, Ling
- O’Laughlin, Michelle D.
- McMichael, Joshua F.
- Magrini, Vincent J.
- McGrath, Sean D.
- Vickery, Tammi L.
- Hundal, Jasreet
- Cook, Lisa L.
- Wylie, Todd N.
- Walker, Jason R.
- Watson, Mark A.
- Heath, Sharon E.
- Payton, Jacqueline E.
- Kulkarni, Shashikant
- Klco, Jeffery M.
- Tomasson, Michael H.
- Walter, Matthew J.
- Graubert, Timothy A.
- DiPersio, John F.
- Ding, Li
- Mardis, Elaine R.
- Wilson, Richard K.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 150
- Issue
- 2
- Pages
- 264-278
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3407563
- OpenAlex
- W2012753533
- Cited by
- 1,575
- References
- 85
- Citations by year
- 2026: 31 · 2025: 60 · 2024: 68 · 2023: 87 · 2022: 95 · 2021: 125 · 2020: 128 · 2019: 134 · 2018: 116 · 2017: 120 · 2016: 130 · 2015: 141 · 2014: 184 · 2013: 134 · 2012: 19
- FWCI
- 101.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 384 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R00HL103975, K99HL103975)
- National Human Genome Research Institute (U54HG003079)
- National Cancer Institute (P30 CA 91842, R01CA083962, P01CA101937, P30CA091842)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- acute myeloid leukemia, clonal evolution, hematopoietic stem and progenitor cells, PML-RARA fusion, normal karyotype, cooperating mutations, subclonal evolution, disease progression, relapse, genomic instability
- MeSH terms
- Adult, Aged, DNA Mutational Analysis, Female, Hematopoietic Stem Cells, Humans, Male, Middle Aged, Mutation, Recurrence, Skin, Leukemia, Myeloid, Acute, Oncogene Proteins, Fusion, Disease Progression, Genome-Wide Association Study, Young Adult, Clonal Evolution
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