The DOI matches its Crossref record; 30 of the 31 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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
Cited by
Sorted by citations
Items 201–300 of 1,003
Reis-Filho, J. S. (2009) · Breast Cancer Research · doi:10.1186/bcr2431 · Cited by 284
High-resolution characterization of a hepatocellular carcinoma genome
Totoki, Y., Tatsuno, K., Yamamoto, S., Arai, Y., Hosoda, F., Ishikawa, S., Tsutsumi, S., Sonoda, K., Totsuka, H., Shirakihara, T., et al. (2011) · Nature Genetics · doi:10.1038/ng.804 · Cited by 284
All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2
Labussière, M., Idbaïh, A., Wang, X.-W., Marie, Y., Boisselier, B., Falet, C., Paris, S., Laffaire, J., Carpentier, C., Crinière, E., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181e1cf3a · Cited by 283
Grassian, A. R., Parker, S. J., Davidson, S. M., Divakaruni, A. S., Green, C. R., Zhang, X., Slocum, K. L., Pu, M., Lin, F., Vickers, C., et al. (2014) · Cancer Research · doi:10.1158/0008-5472.can-14-0772-t · Cited by 280
Im, A., Sehgal, A. R., Carroll, M. P., Smith, B. D., Tefferi, A., Johnson, D. E., & Boyiadzis, M. M. (2014) · Leukemia · doi:10.1038/leu.2014.124 · Cited by 278
Brunet, S., Labopin, M., Esteve, J., Cornelissen, J. J., Socié, G., Iori, A. P., Verdonck, L. F., Volin, L., Gratwohl, A. A., Sierra, J., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.36.9868 · Cited by 278
Großmann, V., Tiacci, E., Holmes, A. B., Kohlmann, A., Martelli, M. P., Kern, W., Rosseto, A. S., Klein, H., Dugas, M., Schindela, S., et al. (2011) · Blood · doi:10.1182/blood-2011-07-365320 · Cited by 273
The prognostic significance of IDH2 mutations in AML depends on the location of the mutation
Green, C. L., Evans, C. M., Zhao, L., Hills, R. K., Burnett, A. K., Linch, D. C., & Gale, R. E. (2011) · Blood · doi:10.1182/blood-2010-12-322479 · Cited by 272
Kulasekararaj, A. G., Jiang, J., Smith, A., Mohamedali, A. M., Mian, S. A., Gandhi, S., Gäken, J. A., Czepulkowski, B. H., Marsh, J. C. W., & Mufti, G. J. (2014) · Blood · doi:10.1182/blood-2014-05-574889 · Cited by 268
Defects in mitochondrial metabolism and cancer
Gaude, E., & Frezza, C. (2014) · Cancer & Metabolism · doi:10.1186/2049-3002-2-10 · Cited by 266
The cancer genome atlas pan-cancer analysis project
Mills, G. B., Mills Shaw, K. R., Shmulevich, I., Stuart, J. M., Ellrott, K., Sander, C., The Cancer Genome Atlas Research Network, Collisson, E. A., Ozenberger, B. A., & Weinstein, J. N. (2013) · Europe PMC (PubMed Central) · doi:10.17615/670y-yr53 · Cited by 265
Intraoperative mass spectrometry mapping of an onco-metabolite to guide brain tumor surgery
Santagata, S., Eberlin, L. S., Norton, I. H., Calligaris, D., Feldman, D. R., Ide, J. L., Liu, X., Wiley, J. S., Vestal, M. L., Ramkissoon, S. H., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1404724111 · Cited by 264
TET proteins and the control of cytosine demethylation in cancer
Scourzic, L., Mouly, E., & Bernard, O. (2015) · Genome Medicine · doi:10.1186/s13073-015-0134-6 · Cited by 263
Somatic SETBP1 mutations in myeloid malignancies
Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B. P., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2696 · Cited by 262
NCCN Task Force Report: Evaluating the Clinical Utility of Tumor Markers in Oncology
Febbo, P. G., Ladanyi, M., Aldape, K., Marzo, A. M. D., Hammond, M. E. H., Hayes, D. F., Iafrate, A. J., Kelley, R. K., Marcucci, G., Ogino, S., et al. (2011) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2011.0137 · Cited by 262
Marcucci, G., Metzeler, K. H., Schwind, S., Becker, H., Maharry, K. S., Mrózek, K., Radmacher, M. D., Kohlschmidt, J., Nicolet, D., Whitman, S. P., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.39.2092 · Cited by 261
Drug repositioning for personalized medicine
Li, Y. Y., & Jones, S. J. M. (2012) · Genome Medicine · doi:10.1186/gm326 · Cited by 264
Acute Myeloid Leukemia: 2025 Update on Diagnosis, Risk‐Stratification, and Management
Shimony, S. O., Stahl, M. F., & Stone, R. M. (2025) · American Journal of Hematology · doi:10.1002/ajh.27625 · Cited by 259
Kosmider, O., Gelsi‐Boyer, V., Slama, L., Dreyfus, F., Beyne‐Rauzy, O., Quesnel, B., Hunault, M., Slama, B., Vey, N., Lacombe, C., et al. (2010) · Leukemia · doi:10.1038/leu.2010.52 · Cited by 257
Buccisano, F., Maurillo, L., Principe, M. I. D., Poeta, G. D., Sconocchia, G., Lo‐Coco, F., Arcese, W., Amadori, S., & Venditti, A. (2011) · Blood · doi:10.1182/blood-2011-08-363291 · Cited by 257
IDH2 R172 mutations define a unique subgroup of patients with angioimmunoblastic T-cell lymphoma
Wang, C., McKeithan, T. W., Gong, Q., Zhang, W., Bouska, A. C., Rosenwald, A., Gascoyne, R. D., Wu, X., Wang, J., Muhammad, Z., et al. (2015) · Blood · doi:10.1182/blood-2015-05-644591 · Cited by 256
A novel hierarchical prognostic model of AML solely based on molecular mutations
Grossmann, V., Schnittger, S., Kohlmann, A., Eder, C., Roller, A., Dicker, F., Schmid, C., Wendtner, C., Staib, P., Serve, H. L., et al. (2012) · Blood · doi:10.1182/blood-2012-03-419622 · Cited by 253
Kihara, R., Nagata, Y., Kiyoi, H., Kato, T., Yamamoto, E., Suzuki, K., Chen, F., Asou, N., Ohtake, S., Miyawaki, S., et al. (2014) · Leukemia · doi:10.1038/leu.2014.55 · Cited by 253
Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity?
Falini, B., Martelli, M. P., Bolli, N., Sportoletti, P., Liso, A., Tiacci, E., & Haferlach, T. (2010) · Blood · doi:10.1182/blood-2010-08-299990 · Cited by 252
Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene
Welch, J. S. (2011) · JAMA · doi:10.1001/jama.2011.497 · Cited by 251
Kulasekararaj, A. G., Smith, A. E., Mian, S. A., Mohamedali, A. M., Krishnamurthy, P., Lea, N. C., Gäken, J., Pennaneach, C., Ireland, R., Czepulkowski, B., et al. (2013) · British Journal of Haematology · doi:10.1111/bjh.12203 · Cited by 250
Wild-type and mutated IDH1/2 enzymes and therapy responses
Molenaar, R. J., Maciejewski, J. P., Wilmink, J. W., & Noorden, C. J. F. V. (2018) · Oncogene · doi:10.1038/s41388-017-0077-z · Cited by 249
Cancer epigenetics in clinical practice
Dávalos, V., & Esteller, M. (2022) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.21765 · Cited by 251
Wagner, K., Damm, F., Göhring, G., Görlich, K., Heuser, M., Schäfer, I., Ottmann, O. G., Lübbert, M., Heit, W. F. W., Kanz, L., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.27.6899 · Cited by 248
Popovic, R., Martínez-García, E., Γιαννοπούλου, Ε., Zhang, Q., Zhang, Q., Ezponda, T., Shah, M. Y., Zheng, Y., Will, C., Small, E. C., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004566 · Cited by 250
Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis
Osorio, F. G., Huber, A. R., Oka, R., Verheul, M., Patel, S. H., Hasaart, K., de la Fonteijne, L., Varela, I., Camargo, F. D., & van Boxtel, R. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.11.014 · Cited by 246
Metabolism, Activity, and Targeting of D- and L-2-Hydroxyglutarates
Ye, D., Guan, K.-L., & Xiong, Y. (2018) · Trends in Cancer · doi:10.1016/j.trecan.2017.12.005 · Cited by 242
Spectrum of somatic mitochondrial mutations in five cancers
Larman, T., DePalma, S. R., Hadjipanayis, A. G., Protopopov, A. I., Zhang, J., Gabriel, S., Chin, L., Seidman, C. E., Kucherlapati, R., & Seidman, J. G. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211502109 · Cited by 240
CAR T Cells for Acute Myeloid Leukemia: State of the Art and Future Directions
Mardiana, S., & Gill, S. I. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.00697 · Cited by 240
Simultaneous alignment of short reads against multiple genomes
Schneeberger, K., Hagmann, J., Ossowski, S., Warthmann, N., Gesing, S., Kohlbacher, O., & Weigel, D. (2009) · Genome biology · doi:10.1186/gb-2009-10-9-r98 · Cited by 238
Harding, J. J., Lowery, M. A., Shih, A. H., Schvartzman, J. M., Hou, S., Famulare, C. A., Patel, M. A., Roshal, M., Do, R. K. G., Zehir, A., et al. (2018) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-0877 · Cited by 238
Molecular subclassification of diffuse gliomas: Seeing order in the chaos
Huse, J. T., PHILLIPS, H. S., & Brennan, C. (2011) · Glia · doi:10.1002/glia.21165 · Cited by 237
TET Family Proteins and Their Role in Stem Cell Differentiation and Transformation
Cimmino, L., Abdel-Wahab, O. I., Levine, R. L., & Aifantis, I. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.08.007 · Cited by 237
Metabolic Reprogramming of Cancer Cells during Tumor Progression and Metastasis
Ohshima, K., & Morii, E. (2021) · Metabolites · doi:10.3390/metabo11010028 · Cited by 236
Shukla, N. N., Ameur, N., Yılmaz, İ., Nafa, K., Lau, C.-Y., Marchetti, A., Borsu, L. A., Barr, F. G., & Ladanyi, M. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-2056 · Cited by 235
Clinical Implications of the Cancer Genome
MacConaill, L. E., & Garraway, L. A. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.27.4944 · Cited by 234
Mutant Isocitrate Dehydrogenase Inhibitors as Targeted Cancer Therapeutics
Golub, D., Iyengar, N. S., Dogra, S., Wong, T., Bready, D., Tang, K., Modrek, A. S., & Placantonakis, D. G. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.00417 · Cited by 234
Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future
Tomer, Y. (2010) · Thyroid · doi:10.1089/thy.2010.1644 · Cited by 233
Positive feedback between NF-κB and TNF-α promotes leukemia-initiating cell capacity
Kagoya, Y., Yoshimi, A., Kataoka, K., Nakagawa, M. M., Kumano, K., Arai, S., Kobayashi, H., Saito, T., Iwakura, Y., & Kurokawa, M. (2014) · Journal of Clinical Investigation · doi:10.1172/jci68101 · Cited by 233
Targeting multiple signaling pathways: the new approach to acute myeloid leukemia therapy
Carter, J. L., Hege-Hurrish, K., Yang, J., Kalpage, H. A., Su, Y., Edwards, H. J., Hüttemann, M., Taub, J. W., & Ge, Y. (2020) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-020-00361-x · Cited by 230
PLCG1 mutations in cutaneous T-cell lymphomas
Vaqué, J. P., Gómez-López, G., Monsálvez, V., Varela, I., Martínez, N., Pérez, C., Domínguez, O., Graña, O., Rodríguez-Peralto, J. L., Rodríguez-Pinilla, S. M., et al. (2014) · Blood · doi:10.1182/blood-2013-05-504308 · Cited by 229
Boissel, N., Nibourel, O., Renneville, A., Gardin, C., Reman, O., Contentin, N., Bordessoule, D., Pautas, C., de Revel, T., Quesnel, B., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2010.28.2285 · Cited by 229
Cancer Cell MetabolismPreprint
Cairns, R. A., Harris, I. S., McCracken, S. A., & Mak, T. W. (2011) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2011.76.012856 · Cited by 229
Chang, S., Yim, S., & Park, H. (2019) · Experimental & Molecular Medicine · doi:10.1038/s12276-019-0230-6 · Cited by 228
Whitman, S. P., Maharry, K. S., Radmacher, M. D., Becker, H., Mrózek, K., Margeson, D., Holland, K. B., Wu, Y.-Z., Schwind, S., Metzeler, K. H., et al. (2010) · Blood · doi:10.1182/blood-2010-05-283648 · Cited by 227
Hypoxia/pseudohypoxia‐mediated activation of hypoxia‐inducible factor‐1α in cancer
Hayashi, Y., Yokota, A., Harada, H., & Huang, G. (2019) · Cancer Science · doi:10.1111/cas.13990 · Cited by 229
Chronic immune response dysregulation in MDS pathogenesis
Barreyro, L., Chlon, T. M., & Starczynowski, D. T. (2018) · Blood · doi:10.1182/blood-2018-03-784116 · Cited by 226
From single cells to deep phenotypes in cancer
Bendall, S. C., & Nolan, G. P. (2012) · Nature Biotechnology · doi:10.1038/nbt.2283 · Cited by 225
Tian, Q., Price, N. D., & Hood, L. (2012) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2011.02498.x · Cited by 224
Pediatric AML: From Biology to Clinical Management
de Rooij, J. D. E., Zwaan, C. M., & van den Heuvel‐Eibrink, M. M. (2015) · Journal of Clinical Medicine · doi:10.3390/jcm4010127 · Cited by 224
The interplay between DNA and histone methylation: molecular mechanisms and disease implications
Li, Y., Chen, X., & Lu, C. (2021) · The EMBO Reports · doi:10.15252/embr.202051803 · Cited by 223
Isocitrate dehydrogenase-1 mutations: A fundamentally new understanding of diffuse glioma?
Kloosterhof, N. K., Bralten, L. B., Dubbink, H. J., French, P. J., & van den Bent, M. J. (2011) · The Lancet Oncology · doi:10.1016/s1470-2045(10)70053-x · Cited by 222
Zdzisińska, B., Żurek, A., & Kandefer-Szerszeń, M. (2017) · Archivum Immunologiae et Therapiae Experimentalis · doi:10.1007/s00005-016-0406-x · Cited by 221
Xi, R., Hadjipanayis, A. G., Luquette, L. J., Kim, T., Lee, E., Zhang, J., Johnson, M. D., Muzny, D. M., Wheeler, D. A., Gibbs, R. A., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1110574108 · Cited by 221
IDH1 and IDH2 mutations as novel therapeutic targets: current perspectives
de Botton, S., Mondesir, J., Willekens, C., & Touat, M. (2016) · Journal of Blood Medicine · doi:10.2147/jbm.s70716 · Cited by 220
Choe, S. E., Wang, H., Dinardo, C. D., Stein, E. M., de Botton, S., Roboz, G. J., Altman, J. K., Mims, A. S., Watts, J. M., Pollyea, D. A., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2020001503 · Cited by 218
Chromatin signatures of cancerPreprint
Morgan, M. A., & Shilatifard, A. (2015) · Genes & Development · doi:10.1101/gad.255182.114 · Cited by 218
SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors
Goya, R., Sun, M., Morin, R. D., Leung, G., Ha, G., Wiegand, K. C., Senz, J., Crisan, A., Marra, M. A., Hirst, M., et al. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq040 · Cited by 217
Cancer genome sequencing: a review
Mardis, E. R., & Wilson, R. K. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp396 · Cited by 214
Self-citationNacev, B. A., Jones, K. B., Intlekofer, A. M., Yu, J., Allis, C. D., Tap, W. D., Ladanyi, M., & Nielsen, T. O. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0288-4 · Cited by 214
Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse
Garg, M., Nagata, Y., Kanojia, D., Mayakonda, A., Yoshida, K., Keloth, S. H., Zang, Z. J., Okuno, Y., Shiraishi, Y., Chiba, K., et al. (2015) · Blood · doi:10.1182/blood-2015-05-646240 · Cited by 212
Self-citationMutant IDH1 promotes leukemogenesis in vivo and can be specifically targeted in human AML
Chaturvedi, A., Araujo Cruz, M. M., Jyotsana, N., Sharma, A., Yun, H., Görlich, K., Wichmann, M., Schwarzer, A., Preller, M., Thol, F., et al. (2013) · Blood · doi:10.1182/blood-2013-03-491571 · Cited by 210
Dinardo, C. D., PROPERT, K. J., Loren, A. W., Paietta, E. M., Sun, Z., Levine, R. L., Straley, K. S., Yen, K. E., Patel, J. P., Agresta, S. V., et al. (2013) · Blood · doi:10.1182/blood-2013-03-493197 · Cited by 210
Molecular Pathways: Isocitrate Dehydrogenase Mutations in Cancer
Clark, O., Yen, K. E., & Mellinghoff, I. K. (2016) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-1333 · Cited by 210
Boscoe, A. N., Rolland, C., & Kelley, R. K. (2019) · Journal of Gastrointestinal Oncology · doi:10.21037/jgo.2019.03.10 · Cited by 210
Acute myeloid leukemia with IDH1 and IDH2 mutations: 2021 treatment algorithm
Issa, G. C., & Dinardo, C. D. (2021) · Blood Cancer Journal · doi:10.1038/s41408-021-00497-1 · Cited by 209
Chou, W., Hou, H., Chen, C., Tang, J., Yao, M., Tsay, W., Ko, B.-S., Wu, S., Huang, S., Hsu, S.-C., et al. (2010) · Blood · doi:10.1182/blood-2009-11-253070 · Cited by 208
van Gisbergen, M. W., Voets, A. M., Starmans, M. H. W., de Coo, I. F. M., Yadak, R., Hoffmann, R. F., Boutros, P. C., Smeets, H. J. M., Dubois, L. J., & Lambin, P. (2015) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2015.01.001 · Cited by 207
Schnittger, S., Haferlach, C., Ulke, M., Alpermann, T., Kern, W., & Haferlach, T. (2010) · Blood · doi:10.1182/blood-2010-02-267955 · Cited by 207
Kornauth, C., Pemovska, T., Vladimer, G. I., Bayer, G., Bergmann, M., Eder, S., Eichner, R., Erl, M., Esterbauer, H., Exner, R., et al. (2022) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0538 · Cited by 206
“The median time from sampling to scFPM report was 5 (1189 33) days, with longer times accounting for re-staining due to updated immunophenotyping 190 data, and to treatment 21 (4-77) days.”
Human Phosphoglycerate Dehydrogenase Produces the Oncometabolite d -2-Hydroxyglutarate
Fan, J., Teng, X., Liu, L., Mattaini, K. R., Looper, R., Heiden, M. G. V., & Rabinowitz, J. D. (2014) · ACS Chemical Biology · doi:10.1021/cb500683c · Cited by 206
TET proteins and 5‐methylcytosine oxidation in hematological cancers
Ko, M., An, J., Pastor, W. A., Koralov, S. B., Rajewsky, K., & Rao, A. (2014) · Immunological Reviews · doi:10.1111/imr.12239 · Cited by 202
Characterizing DNA methylation alterations from The Cancer Genome Atlas
Weisenberger, D. J. (2014) · Journal of Clinical Investigation · doi:10.1172/jci69740 · Cited by 200
Proto-Oncogenic Role of Mutant IDH2 in Leukemia Initiation and Maintenance
Kats, L. M., Reschke, M., Taulli, R., Pozdnyakova, O., Burgess, K., Bhargava, P., Straley, K. S., Karnik, R., Meissner, A., Small, D., et al. (2014) · Cell stem cell · doi:10.1016/j.stem.2013.12.016 · Cited by 200
Fischer, G. M., Gopal, Y. N. V., McQuade, J. L., Peng, W., DeBerardinis, R. J., & Davies, M. A. (2017) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12661 · Cited by 200
Ward, P. S., Cross, J. R., Lü, C., Weigert, O., Abdel-Wahab, O. I., Levine, R. L., Weinstock, D. M., Sharp, K. A., & Thompson, C. B. (2011) · Oncogene · doi:10.1038/onc.2011.416 · Cited by 197
Thol, F. R., Weissinger, E. M., Krauter, J., Wagner, K., Damm, F., Wichmann, M., Göhring, G., Schumann, C., Bug, G., Ottmann, O. G., et al. (2010) · Haematologica · doi:10.3324/haematol.2010.025494 · Cited by 195
Burd, A. L., Levine, R. L., Ruppert, A. S., Mims, A. S., Borate, U., Stein, E. M., Patel, P. A., Baer, M. R., Stock, W., Deininger, M. W., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1089-8 · Cited by 195
McBride, D. J., Orpana, A., Sotiriou, C. P., Joensuu, H., Stephens, P. J., Mudie, L. J., Hämäläinen, E., Stebbings, L. A., Andersson, L. C., Flanagan, A. M., et al. (2010) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20815 · Cited by 194
Targeting Metabolic Remodeling in Glioblastoma Multiforme
Wolf, A., Agnihotri, S., & Guha, A. (2010) · Oncotarget · doi:10.18632/oncotarget.190 · Cited by 194
Cell metabolism: An essential link between cell growth and apoptosis
Mason, E. F., & Rathmell, J. C. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2010.08.011 · Cited by 192
The emerging role of fumarate as an oncometabolite
Yang, M., Soga, T., Pollard, P. J., & Adam, J. (2012) · Frontiers in Oncology · doi:10.3389/fonc.2012.00085 · Cited by 189
IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms
Pardanani, A. D., Lasho, T. L., Finke, C. M., Mai, M., McClure, R. F., & Tefferi, A. (2010) · Leukemia · doi:10.1038/leu.2010.77 · Cited by 189
Molecular pathogenesis of chronic lymphocytic leukemia
Gaïdano, G., Foà, R., & Dalla‐Favera, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64101 · Cited by 188
Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia
Thol, F. R., Damm, F., Wagner, K., Göhring, G., Schlegelberger, B., Hoelzer, D. F., Lübbert, M., Heit, W. F. W., Kanz, L., Schlimok, G., et al. (2010) · Blood · doi:10.1182/blood-2010-03-272146 · Cited by 188
Ward, P. S., Lü, C., Cross, J. R., Abdel-Wahab, O. I., Levine, R. L., Schwartz, G. K., & Thompson, C. B. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.435495 · Cited by 188
Cancer Genomics: Technology, Discovery, and Translation
Tran, B., Dancey, J. E., Kamel‐Reid, S., McPherson, J. D., Bedard, P. L., Brown, A. M. K., Zhang, T., Shaw, P. H., Onetto-Pothier, N., Stein, L. D., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.39.2316 · Cited by 188
Driver mutations of cancer epigenomes
Roy, D. M., Walsh, L. A., & Chan, T. A.-T. (2014) · Protein & Cell · doi:10.1007/s13238-014-0031-6 · Cited by 188
Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology
Cottrell, C. E., Al‐Kateb, H., Bredemeyer, A. J., Duncavage, E. J., Spencer, D. H., Abel, H., Lockwood, C. M., Hagemann, I. S., O’Guin, S. M., Burcea, L. C., et al. (2013) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2013.10.002 · Cited by 187
Self-citationModeling cancer metabolism on a genome scale
Yizhak, K., Chaneton, B., Gottlieb, E., & Ruppin, E. (2015) · Molecular Systems Biology · doi:10.15252/msb.20145307 · Cited by 187
Unique Metabolic Adaptations Dictate Distal Organ-Specific Metastatic Colonization
Schild, T., Low, V., Blenis, J., & Gomes, A. P. (2018) · Cancer Cell · doi:10.1016/j.ccell.2018.02.001 · Cited by 187
Molenaar, R. J., Radivoyevitch, T., Maciejewski, J. P., Noorden, C. J. F. V., & Bleeker, F. E. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.05.004 · Cited by 186
Independent prognostic factors for AML outcome
Grimwade, D. J., & Hills, R. K. (2009) · Hematology · doi:10.1182/asheducation-2009.1.385 · Cited by 186
Chen, C., Liu, Y., Lü, C., Cross, J. R., Morris, J. P., Shroff, A., Ward, P. S., Bradner, J. E., Thompson, C. B., & Lowe, S. W. (2013) · Genes & Development · doi:10.1101/gad.226613.113 · Cited by 186
Oncometabolites: Unconventional triggers of oncogenic signalling cascades
Sciacovelli, M., & Frezza, C. (2016) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2016.04.025 · Cited by 184
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
