The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index.
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes
Open accessPublished version of a preprint
Abstract
Tumor protein p53 (TP53) is the most frequently mutated gene in cancer 1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease 3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to conventional therapies 6-8 and dismal outcomes 9. Consistent with the tumor-suppressive role of TP53, patients harbor both mono- and biallelic mutations 10. However, the biological and clinical implications of TP53 allelic state have not been fully investigated in MDS or any other cancer type. We analyzed 3,324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patients with distinct phenotypes and outcomes. One-third of TP53-mutated patients had monoallelic mutations whereas two-thirds had multiple hits (multi-hit) consistent with biallelic targeting. Established associations with complex karyotype, few co-occurring mutations, high-risk presentation and poor outcomes were specific to multi-hit patients only. TP53 multi-hit state predicted risk of death and leukemic transformation independently of the Revised International Prognostic Scoring System (IPSS-R)11. Surprisingly, monoallelic patients did not differ from TP53 wild-type patients in outcomes and response to therapy. This study shows that consideration of TP53 allelic state is critical for diagnostic and prognostic precision in MDS as well as in future correlative studies of treatment response.
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Treatment outcomes for patients with TP53 mutations are poor with available therapies.8-12”
From Eprenetapopt (APR-246) and Azacitidine in TP53 -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The TP53 mutation burden (ie, high variant allele frequency [VAF], concurrent complex karyotype, and/or multihit state) is integrally linked to inferior survival with median OS of 6-8 months.8-10,12”
From Eprenetapopt (APR-246) and Azacitidine in TP53 -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“However, remissions in TP53-mutant patients are brief with a median overall survival (OS) ranging from 5 to 12 months,8,9,12,13,15-17”
From Eprenetapopt (APR-246) and Azacitidine in TP53 -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“TP53 gene mutations (mTP53) represent a distinct molecular cohort with poor outcomes.”
From Long‐term follow‐up and combined Phase 2 results of eprenetapopt and azacitidine in patients with TP53 mutant MDS/AML (2025) · cites this paper as [3]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“TP53 gene mutations (mTP53) are found in up to 20% of myelodysplastic syndromes/neoplasms (MDS) or acute myeloid leukemia (AML) pts and 30%–40% of therapy‐related (TR) MDS/AML cases”
From Long‐term follow‐up and combined Phase 2 results of eprenetapopt and azacitidine in patients with TP53 mutant MDS/AML (2025) · cites this paper as [3]
Experimental — accuracy not yet measured
The cited source says what the claim attributes to it.
In the citing paper
“Specifically, mTP53 patients with a high variant allele frequency (VAF; i.e., >20%–23%), biallelic state, and/or complex karyotype (CK) have particularly poor risk.”
From Long‐term follow‐up and combined Phase 2 results of eprenetapopt and azacitidine in patients with TP53 mutant MDS/AML (2025) · cites this paper as [3]
The cited source says what the claim attributes to it.
In the citing paper
“Despite the known dominant negative and/or gain of function effect of certain TP53 mutations28,42, loss of the TP53-WT allele, a genetic event associated with a particularly dismal prognosis2, confers an additional fitness advantage to TP53-sAML LSCs.”
From Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution (2023) · cites this paper as [2]
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
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
Cerami, E., Gao, J., Dogrusoz, U., Gross, B. E., Sumer, S. O., Aksoy, B. A., Jacobsen, A., Byrne, C. J., Heuer, M. L., Larsson, E., et al. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0095 · Cited by 17,455
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature · doi:10.1038/s41586-020-2308-7 · Cited by 9,434
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049
A New Initiative on Precision Medicine
Collins, F. S., & Varmus, H. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1500523 · Cited by 5,202
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, K., Lawrence, M. S., Carter, S. L., Sivachenko, A., Jaffe, D. B., Sougnez, C. L., Gabriel, S., Meyerson, M. M., Lander, E. S., & Getz, G. A. (2013) · Nature Biotechnology · doi:10.1038/nbt.2514 · Cited by 4,965
COSMIC: the Catalogue Of Somatic Mutations In Cancer
Tate, J. G., Bamford, S., Jubb, H. C., Sondka, Z., Beare, D. M., Bindal, N., Boutselakis, H., Cole, C. G., Creatore, C., Dawson, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1015 · Cited by 4,867
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
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
Self-citationClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516
Zehir, A., Benayed, R., Shah, R. H., Syed, A., Middha, S., Kim, H. R., Srinivasan, P., Gao, J., Chakravarty, D., Devlin, S. M., et al. (2017) · Nature Medicine · doi:10.1038/nm.4333 · Cited by 3,380
Self-citationRevised International Prognostic Scoring System for Myelodysplastic Syndromes
Greenberg, P. L., Tuechler, H., Schanz, J., Sanz, G. F., Garcia‐Manero, G., Solé, F. G., Bennett, J. M., Bowen, D., Fenaux, P., Dreyfus, F., et al. (2012) · Blood · doi:10.1182/blood-2012-03-420489 · Cited by 3,224
Self-citationOncoKB: A Precision Oncology Knowledge Base
Chakravarty, D., Gao, J., Phillips, S. M., Kundra, R., Zhang, H., Wang, J., Rudolph, J. E., Yaeger, R. D., Soumerai, T. E., Nissan, M. H., et al. (2017) · JCO Precision Oncology · doi:10.1200/po.17.00011 · Cited by 2,783
TP53 mutations in human cancers: origins, consequences, and clinical use.
Olivier, M., Hollstein, M., & Hainaut, P. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a001008 · Cited by 2,199
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Talevich, E., Shain, A. H., Botton, T., & Bastian, B. C. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004873 · Cited by 2,098
Ye, K., Schulz, M. H., Long, Q., Apweiler, R., & Ning, Z. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp394 · Cited by 2,029
Kastenhuber, E. R., & Lowe, S. W. (2017) · Cell · doi:10.1016/j.cell.2017.08.028 · Cited by 1,906
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
Self-citationThe mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2019) · doi:10.1101/531210 · Cited by 1,662
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
Self-citationStrelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
Saunders, C. T., Wong, W. S. W., Swamy, S., Becq, J., Murray, L. J., & Cheetham, R. K. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts271 · Cited by 1,589
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
Self-citationThe Life History of 21 Breast Cancers
Nik-Zainal, S., Van Loo, P., Wedge, D. C., Alexandrov, L. B., Greenman, C. D., Lau, K. W., Raine, K., Jones, D., Marshall, J., Ramakrishna, M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.023 · Cited by 1,443
Self-citationMutant p53 gain of function in two mouse models of Li-Fraumeni syndrome
Olive, K. P., Tuveson, D. A., Ruhe, Z. C., Yin, B., Willis, N. A., Bronson, R. T., Crowley, D., & Jacks, T. (2004) · Cell · doi:10.1016/j.cell.2004.11.004 · Cited by 1,308
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome
Lang, G. A., Iwakuma, T., Suh, Y.-A., Liu, G., Rao, V. A., Parant, J. M., Valentin-Vega, Y. A., Terzian, T., Caldwell, L. C., Strong, L. C., et al. (2004) · Cell · doi:10.1016/j.cell.2004.11.006 · Cited by 1,069
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
Chang, M. T., Asthana, S., Gao, S. P., Lee, B. H., Chapman, J. S., Kandoth, C., Gao, J., Socci, N. D., Solit, D. B., Olshen, A. B., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3391 · Cited by 808
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes
Welch, J. S., Petti, A. A., Miller, C. A., Fronick, C. C., O’Laughlin, M., Fulton, R. S., Wilson, R. K., Baty, J. D., Duncavage, E. J., Tandon, B., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1605949 · Cited by 796
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation
Lindsley, R. C., Saber, W., Mar, B. G., Redd, R., Wang, T., Haagenson, M. D., Grauman, P. V., Hu, Z.-H., Spellman, S. R., Lee, S. J., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1611604 · Cited by 776
Self-citationBouaoun, L., Sonkin, D., Ardin, M., Hollstein, M., Byrnes, G., Zavadil, J., & Olivier, M. (2016) · Human Mutation · doi:10.1002/humu.23035 · Cited by 730
Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas
Donehower, L. A., Soussi, T., Korkut, A., Liu, Y., Schultz, A., Cardenas, M., Li, X., Babur, Ö., Hsu, T., Lichtarge, O., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.07.001 · Cited by 724
Rücker, F. G., Schlenk, R. F., Bullinger, L., Käyser, S., Teleanu, V., Kett, H., Habdank, M., Kugler, C.-M., Holzmann, K., Gaidzik, V. I., et al. (2011) · Blood · doi:10.1182/blood-2011-08-375758 · Cited by 694
Schanz, J., Tüchler, H., Solé, F. G., Mallo, M., Luño, E., Cervera, J., Granada, I., Hildebrandt, B., Slovak, M. L., Ohyashiki, K., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.35.6394 · Cited by 688
Self-citationClassification and Personalized Prognosis in Myeloproliferative Neoplasms
Grinfeld, J., Nangalia, J., Baxter, E. J., Wedge, D. C., Angelopoulos, N., Cantrill, R., Godfrey, A. L., Papaemmanuil, E., Gundem, G., MacLean, C., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716614 · Cited by 655
Self-citationMaximally Selected Rank Statistics
Lausen, B., & Schumacher, M. C. (1992) · Biometrics · doi:10.2307/2532740 · Cited by 644
Breems, D. A., van Putten, W. L. J., de Greef, G. E., van Zelderen‐Bhola, S. L., Gerssen‐Schoorl, K. B. J., Mellink, C. H. M., Nieuwint, A. W. M., Jotterand, M., Hagemeijer, A., Beverloo, H. B., et al. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2008.16.0259 · Cited by 576
Mutational processes shape the landscape of TP53 mutations in human cancer
Giacomelli, A. O., Yang, X., Lintner, R. E., McFarland, J. M., Duby, M., Kim, J., Howard, T. P., Takeda, D. Y., Ly, S. H., Kim, E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0204-y · Cited by 556
Malcovati, L., Papaemmanuil, E., Bowen, D., Boultwood, J., Porta, M. G. D., Pascutto, C., Travaglino, E., Groves, M. J., Godfrey, A. L., Ambaglio, I., et al. (2011) · Blood · doi:10.1182/blood-2011-09-377275 · Cited by 506
Self-citationTP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression
Jädersten, M., Saft, L., Smith, A., Kulasekararaj, A., Pomplun, S., Göhring, G., Hedlund, A., Hast, R., Schlegelberger, B., Porwit, A., et al. (2011) · Journal of Clinical Oncology · doi:10.1200/jco.2010.31.8576 · Cited by 463
Self-citationA dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies
Boettcher, S., Miller, P. G., Sharma, R., McConkey, M., Leventhal, M., Krivtsov, A. V., Giacomelli, A. O., Wong, W., Kim, J., Chao, S., et al. (2019) · Science · doi:10.1126/science.aax3649 · Cited by 441
Self-citationLandscape 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
Self-citationAccelerating Discovery of Functional Mutant Alleles in Cancer
Chang, M. T., Shrestha-Bhattarai, T., Schram, A. M., Bielski, C. M., Donoghue, M. T. A., Jonsson, P., Chakravarty, D., Phillips, S. M., Kandoth, C., Penson, A. V., et al. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0321 · Cited by 413
Yoshizato, T., Nannya, Y., Atsuta, Y., Shiozawa, Y., Iijima‐Yamashita, Y., Yoshida, K., Shiraishi, Y., Suzuki, H., Nagata, Y., Sato, Y., et al. (2017) · Blood · doi:10.1182/blood-2016-12-754796 · Cited by 352
Self-citationfor the International Working Group for MDS Molecular Prognostic Committee, Haase, D., Stevenson, K. E., Neuberg, D., Maciejewski, J. P., Nazha, A., Sekeres, M. A., Ebert, B. L., Garcia-Manero, G., Haferlach, C., et al. (2019) · Leukemia · doi:10.1038/s41375-018-0351-2 · Cited by 259
Self-citationPlatzbecker, U. (2019) · Blood · doi:10.1182/blood-2018-10-844696 · Cited by 244
Self-citationSallman, 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
Self-citationSlovak, M. L., & Shaffer, L. G. (2009) · Cited by 208
Targeted point mutations of p53 lead to dominant-negative inhibition of wild-type p53 function
de Vries, A., Flores, E. R., Miranda, B., Hsieh, H.-M., van Oostrom, C. T. M., Sage, J., & Jacks, T. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.052713099 · Cited by 207
The many faces of p53: something for everyone
Levine, A. J. (2019) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjz026 · Cited by 163
Montalban-Bravo, G., Kanagal-Shamanna, R., Benton, C. B., Class, C. A., Chien, K. S., Sasaki, K., Naqvi, K., Alvarado, Y., Kadia, T. M., Ravandi, F., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2019001101 · Cited by 133
Roman, E., Smith, A. G., Appleton, S., Crouch, S., Kelly, R., Kinsey, S. E., Cargo, C. A., & Patmore, R. D. (2016) · Cancer Epidemiology · doi:10.1016/j.canep.2016.03.011 · Cited by 116
Self-citationLoizou, E., Banito, A., Livshits, G., Ho, Y.-J., Koche, R. P., Sánchez-Rivera, F. J., Mayle, A., Chen, C.-C., Kinalis, S., Bagger, F. O., et al. (2019) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-1391 · Cited by 88
International standing committee on human cytogenetic nomenclature
Mitelman, F. (1996) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(96)90076-x · Cited by 73
Smith, A. G., Howell, D. A., Crouch, S., Painter, D., Blasé, J., Wang, H., Hewison, A., Bagguley, T., Appleton, S., Kinsey, S. E., et al. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyy044 · Cited by 65
Self-citationKitagawa, M., Yoshida, S., Kuwata, T., Tanizawa, T., & Kamiyama, R. (1994) · PubMed Central · Cited by 50
Goel, S., Hall, J., Pradhan, K., Hirsch, C. M., Przychodzen, B. P., Shastri, A., Mantzaris, I., Janakiram, M., Battini, R., Kornblum, N. S., et al. (2016) · Leukemia · doi:10.1038/leu.2016.74 · Cited by 42
Ptashkin, R. N., Benayed, R., Ziegler, J., Rema, A. B., Sadowska, J., Kiecka, I. J., Ho, C., Yao, J., Moung, C., Petrova‐Drus, K., et al. (2019) · Molecular and Cellular Biology / Genetics · doi:10.1158/1538-7445.sabcs18-3409 · Cited by 4
Cited by
Sorted by citations
Khoury, J. D., Solary, E., Abla, O., Akkari, Y., Alaggio, R., Apperley, J. F., Bejar, R., Berti, E., Busque, L., Chan, J. K. C., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01613-1 · Cited by 4,274
Self-citationArber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H.-M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., et al. (2022) · Blood · doi:10.1182/blood.2022015850 · Cited by 2,945
Self-citationMolecular International Prognostic Scoring System for Myelodysplastic Syndromes
Bernard, E., Tuechler, H., Greenberg, P. L., Hasserjian, R. P., Arango Ossa, J. E., Nannya, Y., Devlin, S. M., Creignou, M., Pinel, P., Monnier, L., et al. (2022) · NEJM Evidence · doi:10.1056/evidoa2200008 · Cited by 867
Self-citationCazzola, M. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1904794 · Cited by 508
Self-citationEprenetapopt (APR-246) and Azacitidine in TP53 -Mutant Myelodysplastic Syndromes
Sallman, D. A., DeZern, A. E., Garcia-Manero, G., Steensma, D. P., Roboz, G. J., Sekeres, M. A., Cluzeau, T., Sweet, K. L., McLemore, A., McGraw, K. L., et al. (2021) · Journal of Clinical Oncology · doi:10.1200/jco.20.02341 · Cited by 465
“PRD (63-97) DBD (102-292) TET (323-356) REG (363-393) TAD2 (43-62) TAD1 (1-42) CR mCR + HI mCR HI SD PD NR/NE”
Self-citation
Metadata
- Authors
- Bernard, E., Nannya, Y., Hasserjian, R. P., Devlin, S. M., Tuechler, H., Medina-Martinez, J. S., Yoshizato, T., Shiozawa, Y., Saiki, R., Malcovati, L., Levine, M. F., Arango, J. E., Zhou, Y., Solé, F., Cargo, C. A., Haase, D., Creignou, M., Germing, U., Zhang, Y., Gundem, G., Sarian, A., van de Loosdrecht, A. A., Jädersten, M., Tobiasson, M., Kosmider, O., Follo, M. Y., Thol, F., Pinheiro, R. F., Santini, V., Kotsianidis, I., Boultwood, J., Santos, F. P. S., Schanz, J., Kasahara, S., Ishikawa, T., Tsurumi, H., Takaori-Kondo, A., Kiguchi, T., Polprasert, C., Bennett, J. M., Klimek, V. M., Savona, M. R., Belickova, M., Ganster, C., Palomo, L., Sanz, G., Ades, L., Della Porta, M. G., Elias, H. K., Smith, A. G., Werner, Y., Patel, M., Viale, A., Vanness, K., Neuberg, D. S., Stevenson, K. E., Menghrajani, K., Bolton, K. L., Fenaux, P., Pellagatti, A., Platzbecker, U., Heuser, M., Valent, P., Chiba, S., Miyazaki, Y., Finelli, C., Voso, M. T., Shih, L.-Y., Fontenay, M., Jansen, J. H., Cervera, J., Atsuta, Y., Gattermann, N., Ebert, B. L., Bejar, R., Greenberg, P. L., Cazzola, M., Hellström-Lindberg, E., Ogawa, S., & Papaemmanuil, E.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Kyoto University (JP)
- Massachusetts General Hospital (US)
- University of Pavia (IT)
- Josep Carreras Leukaemia Research Institute (ES)
- St James's University Hospital (GB)
- Universitätsmedizin Göttingen (DE)
- Karolinska University Hospital (SE)
- Heinrich Heine University Düsseldorf (DE)
- Université Paris Cité (FR)
- University of Bologna (IT)
- Medizinische Hochschule Hannover (DE)
- Universidade Federal do Ceará (BR)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- University of Oxford (GB)
- Gifu Municipal Hospital (JP)
- Kobe City Medical Center General Hospital (JP)
- Gifu University (JP)
- Chugoku Central Hospital (JP)
- Chulalongkorn University (TH)
- University of Rochester Medicine (US)
- Vanderbilt University (US)
- Instituto de Salud Carlos III (ES)
- University of York (GB)
- Dana-Farber Cancer Institute (US)
- Hôpital Saint-Louis (FR)
- Leipzig University (DE)
- Ludwig Boltzmann Institute for Hematology and Oncology (AT)
- University of Tsukuba (JP)
- Nagasaki University (JP)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- University of Rome Tor Vergata (IT)
- Chang Gung University (TW)
- Radboud University Medical Center (NL)
- Hospital Universitari i Politècnic La Fe (ES)
- The Japanese Data Center for Hematopoietic Cell Transplantation (JP)
- Howard Hughes Medical Institute (US)
- Moores Cancer Center (US)
- Stanford Cancer Institute (US)
- Corresponding author
- Papaemmanuil, Elli
- ORCID
- Bernard, Elsa
- Nannya, Yasuhito
- Hasserjian, Robert P.
- Devlin, Sean M.
- Tuechler, Heinz
- Medina-Martinez, Juan S.
- Yoshizato, Tetsuichi
- Saiki, Ryunosuke
- Malcovati, Luca
- Levine, Max F.
- Solé, Francesc
- Cargo, Catherine A.
- Creignou, Maria
- Germing, Ulrich
- Zhang, Yanming
- Gundem, Gunes
- Jädersten, Martin
- Tobiasson, Magnus
- Kosmider, Olivier
- Follo, Matilde Y.
- Thol, Felicitas
- Pinheiro, Ronald F.
- Santini, Valeria
- Boultwood, Jacqueline
- Schanz, Julie
- Kasahara, Senji
- Ishikawa, Takayuki
- Tsurumi, Hisashi
- Takaori-Kondo, Akifumi
- Kiguchi, Toru
- Polprasert, Chantana
- Bennett, John M.
- Savona, Michael R.
- Belickova, Monika
- Ganster, Christina
- Palomo, Laura
- Sanz, Guillermo
- Elias, Harold K.
- Smith, Alexandra G.
- Werner, Yesenia
- Neuberg, Donna S.
- Stevenson, Kristen E.
- Menghrajani, Kamal
- Bolton, Kelly L.
- Fenaux, Pierre
- Pellagatti, Andrea
- Platzbecker, Uwe
- Heuser, Michael
- Valent, Peter
- Miyazaki, Yasushi
- Finelli, Carlo
- Voso, Maria Teresa
- Shih, Lee-Yung
- Fontenay, Michaela
- Jansen, Joop H.
- Cervera, José
- Atsuta, Yoshiko
- Ebert, Benjamin L.
- Bejar, Rafael
- Greenberg, Peter L.
- Cazzola, Mario
- Ogawa, Seishi
- Papaemmanuil, Elli
- Venue
- Nature Medicine
- Published
- 2020-08-03
- Volume
- 26
- Issue
- 10
- Pages
- 1549-1556
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- PMC
- PMC8381722
- OpenAlex
- W3046671820
- Cited by
- 648
- References
- 58
- Citations by year
- 2026: 73 · 2025: 91 · 2024: 106 · 2023: 136 · 2022: 130 · 2021: 87 · 2020: 22
- FWCI
- 59.16
- Type
- journal article
- Language
- en
- Update notices
- Open access
- green
- doi.org
- Licence
- Locations
- Nature Medicine (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Amgen
- Pfizer
- Sanofi
- Alexion Pharmaceuticals
- Celgene (21267)
- Helsinn
- European Hematology Association
- Japan Agency for Medical Research and Development (JP18ck0106353, 19ck0106250h0003, JP19cm0106501)
- Taiho Pharmaceutical
- TG Therapeutics
- Astex Pharmaceuticals
- Sunesis
- Incyte
- Nippon Shinyaku
- Celltrion
- Geoffrey Beene Foundation
- Cancer Research UK (29685)
- Agence Nationale de la Recherche (ANR-18-IBHU-0003)
- Ministry of Education, Culture, Sports, Science and Technology (hp160219)
- Austrian Science Fund (#F4704-B20)
- Ministero dell’Istruzione, dell’Università e della Ricerca (21267)
- Astellas Pharma
- Associazione Italiana per la Ricerca sul Cancro (21267, 5×1000, 20125, 13042, project #21267, IG #20125)
- Genesis Pharma
- Otsuka Pharmaceutical
- Ono Pharmaceutical
- Blood Cancer UK (13042)
- Chugai Pharmaceutical
- Pharmacyclics
- Sanofi K.K.
- Japan Society for the Promotion of Science (19H03684, 13042, 18H02836, 26221308, hp160219, 19H05656, 15H05909)
- National Cancer Institute (P30CA008748, K12CA184746, P50CA254838)
- Daiichi Sankyo Europe
- Cilag
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- TP53 mutation, myelodysplastic syndrome, allelic state, monoallelic variants, biallelic variants, genome stability, leukemic transformation, acute myeloid leukemia, complex karyotype, prognosis, treatment response, wild-type p53
- MeSH terms
- Alleles, DNA Mutational Analysis, Female, Gene Frequency, Humans, Male, Mutation, Myelodysplastic Syndromes, Phenotype, Prognosis, Cohort Studies, Survival Analysis, Tumor Suppressor Protein p53, Treatment Outcome, Loss of Heterozygosity, Genomic Instability, DNA Copy Number Variations
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
