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Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome
Open accessAbstract
BACKGROUND: The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known. METHODS: We used massively parallel DNA sequencing to obtain a very high level of coverage (approximately 98%) of a primary, cytogenetically normal, de novo genome for AML with minimal maturation (AML-M1) and a matched normal skin genome. RESULTS: We identified 12 acquired (somatic) mutations within the coding sequences of genes and 52 somatic point mutations in conserved or regulatory portions of the genome. All mutations appeared to be heterozygous and present in nearly all cells in the tumor sample. Four of the 64 mutations occurred in at least 1 additional AML sample in 188 samples that were tested. Mutations in NRAS and NPM1 had been identified previously in patients with AML, but two other mutations had not been identified. One of these mutations, in the IDH1 gene, was present in 15 of 187 additional AML genomes tested and was strongly associated with normal cytogenetic status; it was present in 13 of 80 cytogenetically normal samples (16%). The other was a nongenic mutation in a genomic region with regulatory potential and conservation in higher mammals; we detected it in one additional AML tumor. The AML genome that we sequenced contains approximately 750 point mutations, of which only a small fraction are likely to be relevant to pathogenesis. CONCLUSIONS: By comparing the sequences of tumor and skin genomes of a patient with AML-M1, we have identified recurring mutations that may be relevant for pathogenesis.
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“Recurrent somatic point mutations in the genes coding for isocitrate dehydrogenase 1 and 2 (IDH1, IDH2) are found in a wide variety of cancers, including glioblastoma multiforme (GBM) (Yan et al., 2009) and acute myeloid leukemia (AML) (Dang et al., 2016; Mardis et al., 2009).”
From Targeting Metabolism for Cancer Therapy (2017) · cites this paper as Mardis et al., 2009
In the citing paper
“Mutations in human cytosolic isocitrate dehydrogenase I (IDH1) occur somatically in >70% of grade II-III gliomas and secondary glioblastomas, and in 8.5% of acute myeloid leukemias (AML)”
From The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate (2010) · cites this paper as Mardis et al., 2009
In the citing paper
“These IDH1 R132 mutations were observed in 8.5% of AML patients studied, and a significantly higher percentage of mutation was observed in the subset of patients whose tumors lacked cytogenetic abnormalities”
From The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate (2010) · cites this paper as Mardis et al., 2009
In the citing paper
“In an AML case with an IDH1 mutation that was sequenced in its entirety (Mardis et al., 2009), there were a relatively small total number of somatic, non-synonymous mutations.”
From The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate (2010) · cites this paper as Mardis et al., 2009
In the citing paper
“IDH1/2 mutations have been identified in a range of tumor types, including solid tumors (e.g., gliomas and chondrosarcomas) and blood cancers like acute myelogenous leukemia (169, 170, 171).”
From Regulation and function of the mammalian tricarboxylic acid cycle (2023) · cites this paper as [170]
In the citing paper
“the lack of evidence that 2HG was acting as a mutagen (Mardis et al., 2009)”
From Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate (2012) · cites this paper as Mardis et al., 2009
In the citing paper
“Genomic sequencing of gliomas (Parsons et al., 2008; Yan et al., 2009) and acute myelogenous leukemia (Mardis et al., 2009) identified mutations in two isoforms of NADP+-dependent isocitrate dehydrogenase (IDH1 and IDH2).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Mardis et al., 2009
In the citing paper
“the concentrations at which it accumulates under pathogenic conditions suggests HIF-1α stabilisation and impaired collagen biogenesis may contribute to tumorigenicity126-130.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [129]
In the citing paper
“Treatment of AML with targeted therapies is particularly promising due to the fact that AMLs have far fewer mutations than most other adult cancers, with an average of only 13 mutations (Mardis et al, 2009; Cancer Genome Atlas Research Network, 2013).”
From Unlocking the potential of retinoic acid in anticancer therapy (2014) · cites this paper as Mardis et al, 2009
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Cites
IDH1 and IDH2 Mutations in Gliomas
Yan, H., Parsons, D. W., Jin, G., McLendon, R., Rasheed, B. A., Yuan, W., Kos, I., Batinic-Haberle, I., Jones, S., Riggins, G. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808710 · Cited by 5,847
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
The Consensus Coding Sequences of Human Breast and Colorectal Cancers
Sjöblom, T., Jones, S., Wood, L. D., Parsons, D. W., Lin, J., Barber, T. D., Mandelker, D. L., Leary, R. J., Ptak, J., Silliman, N., et al. (2006) · Science · doi:10.1126/science.1133427 · Cited by 3,161
Mapping short DNA sequencing reads and calling variants using mapping quality scores
Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638
Cytoplasmic Nucleophosmin in Acute Myelogenous Leukemia with a Normal Karyotype
Falini, B., Mecucci, C., Tiacci, E., Alcalay, M., Rosati, R., Pasqualucci, L., La Starza, R., Diverio, D., Colombo, E., Santucci, A., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa041974 · Cited by 1,892
Mutations and Treatment Outcome in Cytogenetically Normal Acute Myeloid Leukemia
Schlenk, R. F., Döhner, K., Krauter, J., Fröhling, S., Corbacioglu, A., Bullinger, L., Habdank, M., Späth, D., Morgan, M., Benner, A., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa074306 · Cited by 1,628
Byrd, J. C. (2002) · Blood · doi:10.1182/blood-2002-03-0772 · Cited by 1,594
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Ley, T. J., Mardis, E. R., Ding, L., Fulton, B., McLellan, M. D., Chen, K., Dooling, D. J., Dunford-Shore, B. H., McGrath, S. D., Hickenbotham, M. T., et al. (2008) · Nature · doi:10.1038/nature07485 · Cited by 1,434
Self-citationPrognostically Useful Gene-Expression Profiles in Acute Myeloid Leukemia
Valk, P. J. M., Verhaak, R. G. W., Beijen, M. A., Erpelinck, C. A. J., van Doorn-Khosrovani, S. B. V. W., Boer, J. M., Beverloo, H. B., Moorhouse, M. J., van der Spek, P. J., Löwenberg, B., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040465 · Cited by 1,370
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Fu, Y., Zheng, S., Zheng, Y., Huang, R., An, N., Liang, A., & Hu, C. (2012) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2012.01.017 · Cited by 49
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Cowin, P. A., Anglesio, M. S., Etemadmoghadam, D., & Bowtell, D. D. L. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141536 · Cited by 48
Suijker, J., Baelde, H. J., Roelofs, H., Cleton-Jansen, A., & Bovée, J. V. M. G. (2015) · Oncotarget · doi:10.18632/oncotarget.4024 · Cited by 47
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Rakheja, D., Medeiros, L. J., Bevan, S., & Chen, W. (2013) · Frontiers in Oncology · doi:10.3389/fonc.2013.00169 · Cited by 47
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Tie, R., Zhang, T., Fu, H., Wang, L., Wang, Y., He, Y., Wang, B., Zhu, N., Fu, S., Lai, X., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093353 · Cited by 47
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Ali, S. M., Yao, M., Yao, J., Wang, J., Cheng, Y., Schrock, A. B., Chirn, G., Chen, H., Mu, S., Gay, L. M., et al. (2017) · Cancer · doi:10.1002/cncr.30781 · Cited by 47
Linninger, A. A., Hartung, G. A., Liu, B. P., Mirkov, S., Tangen, K. M., Lukas, R. V., Unruh, D. J., James, C. D., Sarkaria, J. N., & Horbinski, C. (2018) · Neuro-Oncology · doi:10.1093/neuonc/noy051 · Cited by 47
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Birner, P., Pusch, S., Christov, C., Mihaylova, S., Toumangelova‐Uzeir, K., Natchev, S., SCHOPPMANN, S. F., Tchorbanov, A. I., Streubel, B., Tuettenberg, J., et al. (2014) · Cancer · doi:10.1002/cncr.28732 · Cited by 46
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Engle, E. K., Fisher, D. A. C., Miller, C. A., McLellan, M. D., Fulton, R. S., Moore, D. M., Wilson, R. K., Ley, T. J., & Oh, S. T. (2014) · Leukemia · doi:10.1038/leu.2014.289 · Cited by 45
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Nagao, R., Kikuti, Y. Y., Carreras, J., Kikuchi, T., Miyaoka, M., Matsushita, H., Kojima, M., Ando, K., Sakata‐Yanagimoto, M., Chiba, S., et al. (2016) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000000651 · Cited by 45
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Nitika, Wei, J., & Hui, A. (2022) · Cancers · doi:10.3390/cancers14051164 · Cited by 45
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Ma, Q., Wang, J., Wang, Y., Hu, C., Mu, Q., Yu, M., Wang, L., Wang, D., Yang, M., Yin, X., et al. (2014) · International Journal of Cancer · doi:10.1002/ijc.29395 · Cited by 44
Zhou, Z., Ibekwe, E., & Chornenkyy, Y. (2018) · Antioxidants · doi:10.3390/antiox7010016 · Cited by 44
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Hu, C. W., Qiu, Y., Ligeralde, A., Raybon, A. Y., Yoo, S., Coombes, K. R., Qutub, A. A., & Kornblau, S. M. (2019) · Nature Biomedical Engineering · doi:10.1038/s41551-019-0387-2 · Cited by 44
Nguyen, T.-V., Yao, S., Wang, Y., Rolfe, A., Selvaraj, A., Darman, R. B., Ke, J., Warmuth, M., Smith, P. G., Larsen, N., et al. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.010126 · Cited by 44
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Tu, R., Kang, W., Yang, M., Wang, L., Bao, Q., Chen, Z., Dong, Y., Wang, J., Jiang, J., Liu, H., et al. (2021) · Oncogene · doi:10.1038/s41388-021-02031-w · Cited by 44
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Sellner, L., Capper, D., Meyer, J., Langhans, C., Hartog, C.-M., Pfeifer, H., Serve, H. L., Ho, A. D., Okun, J. G., Krämer, A., et al. (2010) · European Journal Of Haematology · doi:10.1111/j.1600-0609.2010.01505.x · Cited by 44
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Valouev, A., Weng, Z., Sweeney, R. T., Varma, S., Le, Q., Kong, C. S., Sidow, A., & West, R. B. (2013) · Genome Research · doi:10.1101/gr.156224.113 · Cited by 44
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Boissel, N., Nibourel, O., Renneville, A., Huchette, P., Dombret, H., & Preudhomme, C. (2011) · Blood · doi:10.1182/blood-2010-11-320937 · Cited by 43
Solga, A. C., Pong, W. W., Walker, J., Wylie, T., Magrini, V. J., Apicelli, A. J., Griffith, M., Griffith, O. L., Kohsaka, S., Wu, G. F., et al. (2014) · Glia · doi:10.1002/glia.22754 · Cited by 43
Self-citationWillander, K., Falk, I. J., Chaireti, R., Paul, E., Hermansson, M., Gréen, H., Lotfi, K., & Söderkvist, P. (2014) · Biomarker Research · doi:10.1186/2050-7771-2-18 · Cited by 43
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Pisapia, D. J. (2017) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2016-0493-ra · Cited by 43
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Zou, Y., Zeng, Y., Zhang, D., Zou, S., Cheng, Y., & Yao, Y. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.10.038 · Cited by 42
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Johansson, B., & Harrison, C. J. (2015) · Wiley eBooks · doi:10.1002/9781118795569.ch6 · Cited by 42
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Taylor, B. S., & Ladanyi, M. (2010) · The Journal of Pathology · doi:10.1002/path.2794 · Cited by 41
D’Antonio, M., Pendino, V., Sinha, S., & Ciccarelli, F. D. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr952 · Cited by 41
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SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data
Deng, X. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-267 · Cited by 41
Chen, X., Paranjape, T., Stahlhut, C. E., McVeigh, T. P., Keane, F. K., Nallur, S. V., Miller, N., Kerin, M. J., Deng, Y., Yao, X., et al. (2014) · Oncogene · doi:10.1038/onc.2014.117 · Cited by 41
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Metadata
- Authors
- 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., Fulton, L. A., Locke, D. P., Magrini, V. J., Abbott, R. M., Vickery, T. L., Reed, J. S., Robinson, J. S., Wylie, T., Smith, S. M., Carmichael, L., Eldred, J. M., Harris, C. C., Walker, J., Peck, J. B., Du, F., Dukes, A. F., Sanderson, G. E., Brummett, A. M., Clark, E., McMichael, J. F., Meyer, R. J., Schindler, J. K., Pohl, C. S., Wallis, J. W., Shi, X., Lin, L., Schmidt, H., Tang, Y., Haipek, C., Wiechert, M. E., Ivy, J. V., Kalicki, J., Elliott, G., Ries, R. E., Payton, J. E., Westervelt, P., Tomasson, M. H., Watson, M. A., Baty, J., Heath, S., Shannon, W. D., Nagarajan, R., Link, D. C., Walter, M. J., Graubert, T. A., DiPersio, J. F., Wilson, R. K., & Ley, T. J.
- Affiliations
- Washington University in St. Louis (US)
- Alvin J. Siteman Cancer Center (US)
- ORCID
- Mardis, Elaine R.
- Ding, Li
- Larson, David E.
- McLellan, Michael D.
- Chen, Ken
- Koboldt, Daniel C.
- Fulton, Robert S.
- McGrath, Sean D.
- Magrini, Vincent J.
- Vickery, Tammi L.
- Wylie, Todd
- Walker, Jason
- McMichael, Joshua F.
- Pohl, Craig S.
- Tang, Yuzhu
- Ries, Rhonda E.
- Payton, Jacqueline E.
- Tomasson, Michael H.
- Watson, Mark A.
- Heath, Sharon
- Link, Daniel C.
- Walter, Matthew J.
- Graubert, Timothy A.
- DiPersio, John F.
- Wilson, Richard K.
- Ley, Timothy J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-09-10
- Volume
- 361
- Issue
- 11
- Pages
- 1058-1066
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC3201812
- OpenAlex
- W2134061682
- Cited by
- 2,219
- References
- 31
- Citations by year
- 2026: 35 · 2025: 44 · 2024: 57 · 2023: 76 · 2022: 81 · 2021: 107 · 2020: 104 · 2019: 115 · 2018: 120 · 2017: 126 · 2016: 136 · 2015: 154 · 2014: 163 · 2013: 197 · 2012: 251
- FWCI
- 154.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Human Genome Research Institute (U54HG003079)
- National Cancer Institute (P01CA101937)
- National Center for Research Resources (UL1RR024992)
- 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 › Chromatin Remodeling and Cancer
- Keywords
- acute myeloid leukemia, somatic mutations, IDH1 mutation, NPM1 mutation, NRAS mutation, cytogenetically normal AML, tumor genome sequencing
- MeSH terms
- Nucleophosmin, Adult, DNA Mutational Analysis, Female, Gene Frequency, Humans, Isocitrate Dehydrogenase, Male, Middle Aged, Mutation, Leukemia, Myeloid, Acute, Genome, Human, Point Mutation, Sequence Analysis, DNA
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