The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Clonal Architecture of Secondary Acute Myeloid Leukemia
Open accessAbstract
BACKGROUND: The myelodysplastic syndromes are a group of hematologic disorders that often evolve into secondary acute myeloid leukemia (AML). The genetic changes that underlie progression from the myelodysplastic syndromes to secondary AML are not well understood. METHODS: We performed whole-genome sequencing of seven paired samples of skin and bone marrow in seven subjects with secondary AML to identify somatic mutations specific to secondary AML. We then genotyped a bone marrow sample obtained during the antecedent myelodysplastic-syndrome stage from each subject to determine the presence or absence of the specific somatic mutations. We identified recurrent mutations in coding genes and defined the clonal architecture of each pair of samples from the myelodysplastic-syndrome stage and the secondary-AML stage, using the allele burden of hundreds of mutations. RESULTS: Approximately 85% of bone marrow cells were clonal in the myelodysplastic-syndrome and secondary-AML samples, regardless of the myeloblast count. The secondary-AML samples contained mutations in 11 recurrently mutated genes, including 4 genes that have not been previously implicated in the myelodysplastic syndromes or AML. In every case, progression to acute leukemia was defined by the persistence of an antecedent founding clone containing 182 to 660 somatic mutations and the outgrowth or emergence of at least one subclone, harboring dozens to hundreds of new mutations. All founding clones and subclones contained at least one mutation in a coding gene. CONCLUSIONS: Nearly all the bone marrow cells in patients with myelodysplastic syndromes and secondary AML are clonally derived. Genetic evolution of secondary AML is a dynamic process shaped by multiple cycles of mutation acquisition and clonal selection. Recurrent gene mutations are found in both founding clones and daughter subclones. (Funded by the National Institutes of Health and others.).
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.
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
Hallmarks of Cancer: The Next Generation
Hanahan, D., & Weinberg, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.02.013 · Cited by 66,590
DAVID: Database for Annotation, Visualization, and Integrated Discovery
Dennis, G., Sherman, B. T., Hosack, D. A., Yang, J., Gao, W., Lane, H. C., & Lempicki, R. A. (2003) · Genome Biology · doi:10.1186/gb-2003-4-5-p3 · Cited by 9,327
International scoring system for evaluating prognosis in myelodysplastic syndromes
Greenberg, P., Cox, C., LeBeau, M. M., Fenaux, P., Morel, P., Sanz, G., Sanz, M., Vallespi, T., Hamblin, T., Oscier, D., et al. (1997) · Blood · doi:10.1182/blood.v89.6.2079 · Cited by 4,427
Recurring 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
Self-citationClonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
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) · Nature · doi:10.1038/nature10738 · Cited by 1,993
Clinical Effect of Point Mutations in Myelodysplastic Syndromes
Bejar, R., Stevenson, K., Abdel-Wahab, O., Galili, N., Nilsson, B., Garcia-Manero, G., Kantarjian, H., Raza, A., Levine, R. L., Neuberg, D., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1013343 · Cited by 1,627
Cited by
Genomic 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
Revised International Prognostic Scoring System for Myelodysplastic Syndromes
Greenberg, P. L., Tuechler, H., Schanz, J., Sanz, G., Garcia-Manero, G., Solé, F., Bennett, J. M., Bowen, D., Fenaux, P., Dreyfus, F., et al. (2012) · Blood · doi:10.1182/blood-2012-03-420489 · Cited by 2,844
Clinical 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
The origin and evolution of mutations in acute myeloid leukemia
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., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.023 · Cited by 1,575
Self-citationLandscape 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
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
Shlush, L. I., Zandi, S., Mitchell, A., Chen, W. C., Brandwein, J. M., Gupta, V., Kennedy, J. A., Schimmer, A. D., Schuh, A. C., Yee, K. W., et al. (2014) · Nature · doi:10.1038/nature13038 · Cited by 1,443
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
Biological and therapeutic impact of intratumor heterogeneity in cancer evolution
McGranahan, N., & Swanton, C. (2015) · Cancer Cell · doi:10.1016/j.ccell.2014.12.001 · Cited by 1,077
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations
Lindsley, R. C., Mar, B. G., Mazzola, E., Grauman, P. V., Shareef, S., Allen, S. L., Pigneux, A., Wetzler, M., Stuart, R. K., Erba, H. P., et al. (2015) · Blood · doi:10.1182/blood-2014-11-610543 · Cited by 991
Widespread Genetic Heterogeneity in Multiple Myeloma: Implications for Targeted Therapy
Lohr, J. G., Stojanov, P., Carter, S. L., Cruz-Gordillo, P., Lawrence, M. S., Auclair, D., Sougnez, C., Knoechel, B., Gould, J., Saksena, G., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2013.12.015 · Cited by 988
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-citationClonal diversity of recurrently mutated genes in myelodysplastic syndromes
Walter, M. J., Shen, D., Shao, J., Ding, L., White, B. S., Kandoth, C., Miller, C. A., Niu, B., McLellan, M. D., Dees, N. D., et al. (2013) · Leukemia · doi:10.1038/leu.2013.58 · Cited by 284
Self-citationKulasekararaj, 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
Sallman, D. A., Komrokji, R., Vaupel, C., Cluzeau, T., Geyer, S. M., McGraw, K. L., Al Ali, N. H., Lancet, J., McGinniss, M. J., Nahas, S., et al. (2016) · Leukemia · doi:10.1038/leu.2015.304 · Cited by 231
Myelodysplastic syndrome progression to acute myeloid leukemia at the stem cell level
Chen, J., Kao, Y.-R., Sun, D., Todorova, T. I., Reynolds, D., Narayanagari, S.-R., Montagna, C., Will, B., Verma, A., & Steidl, U. (2019) · Nature Medicine · doi:10.1038/s41591-018-0267-4 · Cited by 226
Vignot, S., Frampton, G. M., Soria, J.-C., Yelensky, R., Commo, F., Brambilla, C., Palmer, G., Moro-Sibilot, D., Ross, J. S., Cronin, M. T., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.47.7737 · Cited by 175
Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer?
Grove, C. S., & Vassiliou, G. S. (2014) · Disease Models & Mechanisms · doi:10.1242/dmm.015974 · Cited by 172
Kotini, A. G., Chang, C.-J., Boussaad, I., Delrow, J. J., Dolezal, E. K., Nagulapally, A. B., Perna, F., Fishbein, G. A., Klimek, V. M., Hawkins, R. D., et al. (2015) · Nature Biotechnology · doi:10.1038/nbt.3178 · Cited by 171
Self-citationHolstege, H., Pfeiffer, W., Sie, D., Hulsman, M., Nicholas, T. J., Lee, C. C., Ross, T., Lin, J., Miller, M. A., Ylstra, B., et al. (2014) · Genome Research · doi:10.1101/gr.162131.113 · Cited by 152
Single-cell genotyping demonstrates complex clonal diversity in acute myeloid leukemia
Paguirigan, A. L., Smith, J., Meshinchi, S., Carroll, M., Maley, C., & Radich, J. P. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa0763 · Cited by 139
Myeloid malignancies: mutations, models and management
Murati, A., Brecqueville, M., Devillier, R., Mozziconacci, M.-J., Gelsi-Boyer, V., & Birnbaum, D. (2012) · BMC Cancer · doi:10.1186/1471-2407-12-304 · Cited by 139
Kim, T., Tyndel, M. S., Kim, H. J., Ahn, J.-S., Choi, S. H., Park, H. J., Kim, Y.-K., Kim, S. Y., Lipton, J. H., Zhang, Z., et al. (2017) · Blood · doi:10.1182/blood-2016-04-708560 · Cited by 133
Ferrando, A. A., & López-Otín, C. (2017) · Nature Medicine · doi:10.1038/nm.4410 · Cited by 120
Sasaki, K., Kanagal‐Shamanna, R., Montalban‐Bravo, G., Assi, R., Jabbour, E., Ravandi, F., Kadia, T., Pierce, S., Takahashi, K., Nogueras Gonzalez, G., et al. (2020) · Cancer · doi:10.1002/cncr.32566 · Cited by 101
Clonality in context: hematopoietic clones in their marrow environment
Cooper, J. N., & Young, N. S. (2017) · Blood · doi:10.1182/blood-2017-07-794362 · Cited by 87
The serum tryptase test: an emerging robust biomarker in clinical hematology
Valent, P., Sperr, W. R., Sotlar, K., Reiter, A., Akin, C., Gotlib, J., Horny, H.-P., & Arock, M. (2014) · Expert Review of Hematology · doi:10.1586/17474086.2014.955008 · Cited by 83
Donor-engrafted CHIP is common among stem cell transplant recipients with unexplained cytopenias
Gibson, C. J., Kennedy, J. A., Nikiforow, S., Kuo, F. C., Alyea, E. P., Ho, V., Ritz, J., Soiffer, R., Antin, J. H., & Lindsley, R. C. (2017) · Blood · doi:10.1182/blood-2017-01-764951 · Cited by 82
Gondek, L. P., & DeZern, A. E. (2020) · The Lancet Haematology · doi:10.1016/s2352-3026(19)30211-x · Cited by 63
Lodé, L., Ménard, A., Flet, L., Richebourg, S., Loirat, M., Eveillard, M., Le Bris, Y., Godon, C., Theisen, O., Gagez, A.-L., et al. (2018) · Haematologica · doi:10.3324/haematol.2017.181404 · Cited by 52
Yang, Y.-T., Chiu, Y.-C., Kao, C.-J., Hou, H.-A., Lin, C.-C., Tsai, C.-H., Tseng, M.-H., Chou, W.-C., & Tien, H.-F. (2018) · Blood Cancer Journal · doi:10.1038/s41408-018-0115-2 · Cited by 32
Clone wars: the emergence of neoplastic blood-cell clones with aging
Abkowitz, J. L. (2014) · New England Journal of Medicine · doi:10.1056/nejme1412902 · Cited by 18
Metadata
- Authors
- Walter, M. J., Shen, D., Ding, L., Shao, J., Koboldt, D. C., Chen, K., Larson, D. E., McLellan, M. D., Dooling, D., Abbott, R., Fulton, R., Magrini, V., Schmidt, H., Kalicki-Veizer, J., O'Laughlin, M., Fan, X., Grillot, M., Witowski, S., Heath, S., Frater, J. L., Eades, W., Tomasson, M., Westervelt, P., DiPersio, J. F., Link, D. C., Mardis, E. R., Ley, T. J., Wilson, R. K., & Graubert, T. A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-03-22
- Volume
- 366
- Issue
- 12
- Pages
- 1090-1098
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2157783208
- Cited by
- 775
- References
- 6
- FWCI
- 66.07
- Type
- journal article
- Language
- en
- Open access
- bronze
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
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
