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-citation
Cited by
Sorted by citations
Items 401–500 of 648
Toribio-Castelló, S., Castaño‐Díez, S., Villaverde-Ramiro, Á., Such, E., Arnán, M., Solé, F. G., Díaz‐Beyá, M., Díez‐Campelo, M., Rey, M. D., González, T., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.19.524703 · Cited by 4
Self-citationSong, S., & Yu, J. (2025) · Current Pharmaceutical Design · doi:10.2174/0113816128349101250102113613 · Cited by 3
Karyotype evolution of myelodysplastic syndrome and acute myeloid leukemia with TP53 mutations
Matsumoto, Y., Kato, D., Muramatsu, A., Sugitani, M., Kobayashi, T., Iwai, T., Mori, M., Motooka, D., Nakata, J., Ogawa, S., et al. (2025) · International Journal of Hematology · doi:10.1007/s12185-025-03938-w · Cited by 3
Self-citationMasuda, Y., Sadato, D., Toya, T., Hosoda, Y., Hirama, C., Shimizu, H., Najima, Y., Harada, H., Harada, Y., & Doki, N. (2025) · International Journal of Hematology · doi:10.1007/s12185-025-03951-z · Cited by 3
Curing the Incurable: TP53 Mutated Myeloid Neoplasms
Punwani, N., & Chhabra, S. (2025) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2025.07.013 · Cited by 3
A clinico-genomic prognostic model for primary myelodysplastic neoplasm in Asia
Gill, H., Yim, R., Lee, P., Tsai, X. C.-H., Li, V., Leung, G. M. K., Ooi, M. G. M., Hui, T.-S., Raghupathy, R., Chin, L., et al. (2025) · Blood Cancer Journal · doi:10.1038/s41408-025-01339-0 · Cited by 3
Beyond Hypomethylating Agents: Novel Therapies and Targeted Approaches
Cortiana, V., Vallabhaneni, H., Ghazal, J. F., Itodo, K., Dohadwala, T. K., Park, C. H., & Leyfman, Y. (2025) · Clinical Hematology International · doi:10.46989/001c.142956 · Cited by 4
Qader, M. A. J. A., Numan, I. T., Al-Sudani, B. T., & Abdalqader, M. A. (2025) · Al Mustansiriyah Journal of Pharmaceutical Sciences · doi:10.32947/ajps.v25i3.1224 · Cited by 3
Decitabine-cedazuridine in patients with MDS and TP53 mutations
Urrutia, S., Sasaki, K., Bataller, Á., Kantarjian, H. M., Bravo, G. M., McCloskey, J. K., Griffiths, E. A., Yee, K. W. L., Zeidan, A. M., Savona, M. R., et al. (2025) · Blood Advances · doi:10.1182/bloodadvances.2025017745 · Cited by 3
Self-citationSmith, T. K., Jean, J., Phan, S., Kovach, A. E., Miller, K. P., Han, J. O., Ma, K., Fong, C., Doan, A., Bhojwani, D., et al. (2025) · Modern Pathology · doi:10.1016/j.modpat.2025.100937 · Cited by 3
How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know
Perrone, S., Tresoldi, C., Rigamonti, S., Molica, M., Zhdanovskaya, N., & Cicconi, L. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14248681 · Cited by 3
Evolutionary trajectories of myelodysplastic syndromes/neoplasms
Creignou, M., Sarchi, M., Bernard, E., & Malcovati, L. (2026) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2026.01.006 · Cited by 4
Self-citationRisk stratification of patients with TP53-mutated myeloproliferative neoplasms
Rolles, B., Filho, C. M. D. O., Fergusson, N., Bewersdorf, J. P., Keating, J. H., Perkins, C., Schwede, M., England, J. T., Luskin, M. R., DeAngelo, D. J., et al. (2026) · Leukemia · doi:10.1038/s41375-026-02885-7 · Cited by 3
Harnessing genomics for early cancer detection, risk stratification and prevention
Gu, M., Zhang, W. Z., Fitzgerald, R. C., Frankell, A. M., & Vassiliou, G. S. (2026) · Nature Genetics · doi:10.1038/s41588-026-02505-1 · Cited by 4
Sun, Y., Qin, S., Wang, L., Yi, H., Ding, L., Cai, B., Liu, N., Li, Y., Hu, J., Qiao, Z., et al. (2026) · Annals of Hematology · doi:10.1007/s00277-026-06895-4 · Cited by 3
Iqbal, U., & Shallis, R. M. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1779094 · Cited by 3
Ibusuki, R., Iwama, E., Shimauchi, A., Kawano, H., Tsuneoka, Y., Hashisako, M., Harada, T., Tsuchiya‐Kawano, Y., Nakatomi, K., Furuyama, K., et al. (2026) · ESMO Open · doi:10.1016/j.esmoop.2026.108018 · Cited by 3
Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk‐Stratification and Management
Garcia‐Manero, G. (2026) · American Journal of Hematology · doi:10.1002/ajh.70405 · Cited by 4
Is it the time to integrate novel sequencing technologies into clinical practice?
VanOudenhove, J., Halene, S., & Mendez, L. (2022) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000754 · Cited by 4
Immunological Role of TP53 Somatic Mutation Classification in Human Cancers
Fang, J., Yang, Y., Xie, L., & Yin, W. (2023) · Journal of Oncology · doi:10.1155/2023/1904309 · Cited by 3
Jiang, B., Yang, T., Zhao, Y., Luo, Y., Ouyang, G., Yu, J., Ye, Y., Lan, J., Lu, Y., Lai, X., et al. (2024) · Bone Marrow Transplantation · doi:10.1038/s41409-024-02486-x · Cited by 4
Rasmussen, B. E. H., Nilsson, L., Tobiasson, M., Jädersten, M., Garelius, H. G., Dybedal, I., Grønbæk, K., Ejerblad, E., Lorenz, F., Flogegård, M., et al. (2025) · Genes Chromosomes and Cancer · doi:10.1002/gcc.70029 · Cited by 3
Self-citationMolina, A., Khanna, V., Jensen, A. M., Stehr, H., Tan, B. T., Yatsenko, S. A., & Greenberg, P. L. (2025) · Leukemia Research · doi:10.1016/j.leukres.2025.107736 · Cited by 3
Self-citationHuang, N., Chang, C.-K., Wu, L., He, Q., Zhang, Z., Li, X., & Xu, F. (2025) · British Journal of Haematology · doi:10.1111/bjh.70078 · Cited by 3
Román, H. L. C., Venugopal, K., Feng, Y., Shabashvili, D. E., Posada, L. M., Li, J., & Guryanova, O. A. (2020) · Leukemia Research · doi:10.1016/j.leukres.2020.106372 · Cited by 3
Prognostic mutation constellations in acute myeloid leukaemia and myelodysplastic syndrome
Iacobucci, I., & Mullighan, C. G. (2021) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000629 · Cited by 3
Advances in the pharmacological management of acute myeloid leukemia in adults
Numan, Y., Abaza, Y., Altman, J. K., & Platanias, L. C. (2022) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2022.2111212 · Cited by 3
Evaluation of the Stellae-123 prognostic gene expression signature in acute myeloid leukemia
Orgueira, A. M., Raíndo, A. P., Arias, J. Á. D., Rodríguez, B. A., Riñón, M. L., Cerchione, C., Burguera, A. D. L. F., Pérez, M. S. G., Martinelli, G., Montesinos, P., et al. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.968340 · Cited by 3
Wang, Y., Yao, C., Lin, C., Chen, C., Hsu, C., Tsai, C., Hou, H., Chou, W., & Tien, H. (2022) · eJHaem · doi:10.1002/jha2.547 · Cited by 3
Identifying prognostic gene panels in acute myeloid leukemia
Sánchez‐García, J., Serrano, J., de la Torre, E. P., Serrano‐López, J., Pérez, C. A., Barragán, E., & Montesinos, P. (2023) · Expert Review of Hematology · doi:10.1080/17474086.2023.2193322 · Cited by 4
Novel Approaches and Future Directions in Myelodysplastic Syndrome Treatment
Bewersdorf, J. P., Xie, Z., & Zeidan, A. M. (2023) · The Cancer Journal · doi:10.1097/ppo.0000000000000658 · Cited by 3
Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53
Siddon, A. J., & Weinberg, O. K. (2023) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2023.07.004 · Cited by 3
Jin, J., Chen, B., Deng, C.-H., Chen, J., Xu, F., Tao, Y., Hu, C.-L., Xu, C., Chang, B.-H., Wang, Y., et al. (2023) · Science Advances · doi:10.1126/sciadv.adi7375 · Cited by 3
Self-citationMutational screening to improve the transplantation decision-making process in MDS
Campagna, A., & Porta, M. G. D. (2023) · Hematology · doi:10.1182/hematology.2023000516 · Cited by 3
Molecular Pathology of Myeloid Neoplasms
Sadigh, S., & Kim, A. S. (2024) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2023.08.007 · Cited by 3
Harris, R. A., Nolan, J., Ammons, D. T., Beeson, S. K., Thamm, D. H., & Avery, A. C. (2024) · Veterinary Clinical Pathology · doi:10.1111/vcp.13388 · Cited by 3
The EHA Research Roadmap: Malignant Myeloid Diseases
Döhner, H., Malcovati, L., Ossenkoppele, G. J., Hochhaus, A., Vannucchi, A. M., Bullinger, L., Cervantes, F., Craddock, C., de Witte, T., Döhner, K., et al. (2021) · HemaSphere · doi:10.1097/hs9.0000000000000635 · Cited by 4
Self-citationRichardson, D. R., & Dezern, A. E. (2021) · Hematology · doi:10.1182/hematology.2021000320 · Cited by 3
Wang, C., Wang, Z., Meng, F., Luo, L., Liu, X., Shi, J., & Huang, L. (2022) · International Journal of General Medicine · doi:10.2147/ijgm.s371766 · Cited by 3
Slade, M., Fiala, M. A., Kelley, S., Crees, Z. D., Schroeder, M. A., Stockerl-Goldstein, K. E., & Vij, R. (2023) · Leukemia Research · doi:10.1016/j.leukres.2023.107037 · Cited by 3
Ball, S., Loghavi, S., & Zeidan, A. M. (2022) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2022.2136969 · Cited by 3
Illman, J., Kytölä, S. I., Myllymäki, M., & Ebeling, F. T. (2022) · Haematologica · doi:10.3324/haematol.2022.281595 · Cited by 3
Inflammation drives pressure on TP53 mutant clones in myeloproliferative neoplasms
Benabid, A., & Schneider, R. K. (2023) · Nature Genetics · doi:10.1038/s41588-023-01479-8 · Cited by 3
Updates on risk stratification and management of lower-risk myelodysplastic syndromes/neoplasms
Badar, T., Madanat, Y. F., & Zeidan, A. M. (2023) · Future Oncology · doi:10.2217/fon-2023-0454 · Cited by 2
Hamada, A., Kita, Y., Sakatani, T., Nakamura, K. D., Takada, H., Ikeuchi, R., Koike, S., Masuda, N., Murakami, K., Sano, T., et al. (2025) · Oncogene · doi:10.1038/s41388-025-03311-5 · Cited by 2
Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective
Basquiera, A. L., Andreoli, V., Grille, S., & Belli, C. (2025) · Genes · doi:10.3390/genes16060687 · Cited by 2
Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies
Mo, S. S., & Dezern, A. E. (2025) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-025-00762-1 · Cited by 2
Ou-Yang, Y., Ma, D., Lin, C., Yang, Y., Liu, C., Hou, J., Jin, X., Shao, Z., & Jiang, Y. (2025) · Cell Discovery · doi:10.1038/s41421-025-00830-z · Cited by 2
Benedito, S. D. S., Bernardo, P. S., Martin, J., Marty, C., Plo, I., Antony‐Debré, I., & Monte-Mór, B. D. C. R. (2026) · HemaSphere · doi:10.1002/hem3.70332 · Cited by 2
Patel, S. A., Zhu, V., Gerber, W. K., Suzuki, S., Barker, C., Hutchinson, L., Khedr, S., Cachia, D., Mangaonkar, A. A., McGuiness, M. E., et al. (2026) · American Journal of Hematology · doi:10.1002/ajh.70374 · Cited by 2
Somatic mutations in SF3B1 aberrant‐negative MDS‐RS most commonly involved in TP53 genes
Li, X., Xu, F., Wu, L., Guo, J., He, Q., & Zhang, Z. (2022) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17350 · Cited by 2
Factors associated with clonal hematopoiesis and interaction with marrow environment
Nannya, Y. (2022) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-022-01380-0 · Cited by 2
Self-citationMyelodysplastic syndromes, thy name is heterogeneity
Greenberg, P. L. (2023) · British Journal of Haematology · doi:10.1111/bjh.18649 · Cited by 2
Self-citationFeng, D., Wang, M. Y., Liu, J., Zhang, H. X., Chen, X., Zhang, R. L., Zhai, W., Ma, Q. L., Pang, A., Yang, D., et al. (2023) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2023.03.008 · Cited by 2
Kewan, T. Z., Stahl, M., Bewersdorf, J. P., & Zeidan, A. M. (2024) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-024-00733-y · Cited by 2
Advances in the management of higher-risk myelodysplastic syndromes: future prospects
Gener‐Ricos, G., Rodríguez‐Sevilla, J. J., Urrutia, S., Bataller, Á., Bazinet, A., & Garcia‐Manero, G. (2024) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2024.2344061 · Cited by 2
Xiao, Y., Gao, L., Zhao, X., Zhao, W., Mai, L., Ma, C., Han, Y., & Li, X. (2024) · International Immunopharmacology · doi:10.1016/j.intimp.2024.112603 · Cited by 2
Cassim, S., Nell, E., Gantana, E. J., Musekwa, E., Lohlun, R. K., Abdullah, I., & Chapanduka, Z. C. (2024) · Journal of the Colleges of Medicine of South Africa · doi:10.4102/jcmsa.v2i1.75 · Cited by 2
Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDS
Li, P., Alnoor, F., Xie, W., Williams, M. C., Feusier, J. E., Ding, Y., Zhao, X., Zheng, G., Zhao, C., Zieske, A. W., et al. (2024) · Leukemia · doi:10.1038/s41375-024-02397-2 · Cited by 2
Qiu, H., Zhang, C., Ma, X., & Li, Y. (2025) · Oncology Reports · doi:10.3892/or.2025.8887 · Cited by 2
New Approvals in Low- and Intermediate-Risk Myelodysplastic Syndromes
McMahon, C. M., Raddi, M. G., Mohan, S. R., & Santini, V. (2025) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk-25-473654 · Cited by 2
Self-citationFeng, X., Yang, H., Xu, P., Zhang, S., Britzen‐Laurent, N., Bao, L.-L., Grützmann, R., Krautz, C., & Pilarsky, C. P. (2025) · Cancers · doi:10.3390/cancers17101637 · Cited by 2
Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome
Vagher, J., Zakas, A. L., Donovan, L. N., Shoger, K., Naumer, A., Bly, J., Smith-Simmer, K. J., Maese, L. D., Schiffman, J. D., Kohlmann, W. K., et al. (2025) · JCO Precision Oncology · doi:10.1200/po-24-00860 · Cited by 2
Chen, H., Jiang, S., Wei, R., Zhang, A., Cao, X., Shi, W., & Xia, L. (2025) · Cell Transplantation · doi:10.1177/09636897251348406 · Cited by 2
Fuchs, O. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00046-9 · Cited by 2
Advances in Structural Variant Detection in Hematolymphoid Malignancies
Chakraborty, S. R., Khan, W. A., Kaur, P., & Karrs, J. X. (2024) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2024.06.002 · Cited by 2
A line in shifting sand: Can we define and target TP53 mutated MDS?
Skuli, S. J., Matthews, A. H., Carroll, M. P., & Lai, C. (2024) · Seminars in Hematology · doi:10.1053/j.seminhematol.2024.10.009 · Cited by 2
Myelodysplastic Syndromes and Modalities of Treatment: An Updated Literature Review
Zamora, D. I., Patel, G. S., Grossmann, I., Rodriguez, K., Soni, M., Joshi, P. K., Patel, S. C., Shreya, D., & Sange, I. (2021) · Cureus · doi:10.7759/cureus.20116 · Cited by 2
Finelli, C., Parisi, S., & Paolini, S. (2022) · Expert Review of Hematology · doi:10.1080/17474086.2022.2077721 · Cited by 2
Self-citationAdvances in Allogeneic Hematopoietic Stem Cell Transplantation for Acute Leukemia
Nannya, Y., Viswabandya, A., & Lu, P. (2022) · BLOOD CELL THERAPY / The official journal of APBMT · doi:10.31547/bct-2022-015 · Cited by 2
Self-citationUpdates in Classification of Myelodysplastic Syndrome
Xu, M. L., & Hasserjian, R. P. (2023) · The Cancer Journal · doi:10.1097/ppo.0000000000000659 · Cited by 2
Self-citationAcute Myeloid Leukemia Genomics: Impact on Care and Remaining Challenges
Eisfeld, A., & Mardis, E. R. (2024) · Clinical Chemistry · doi:10.1093/clinchem/hvad171 · Cited by 2
Felemban, M. F., AlRasheed, R. F., Alshagroud, R., & Aldosari, A. M. (2024) · Cureus · doi:10.7759/cureus.60147 · Cited by 2
Ou, Y., Yan, Y., Yu, H., Zhang, X., Liu, M., & Wu, Y. (2021) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.13502 · Cited by 2
Impact of PPM1D mutations in patients with myelodysplastic syndrome and deletion of chromosome 5q
Panagiota, V., Meggendorfer, M., Kubasch, A. S., Gabdoulline, R. R., Krönke, J., Mies, A., Shahswar, R., Kandziora, C., Klement, P., Schiller, J., et al. (2021) · American Journal of Hematology · doi:10.1002/ajh.26162 · Cited by 2
Self-citationNavigating Myelodysplastic and Myelodysplastic/Myeloproliferative Overlap Syndromes
Hasserjian, R. P., Buckstein, R. J., & Patnaik, M. M. (2021) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_320113 · Cited by 2
Self-citationRevealing the dark secrets of TP53-mutated AML
Hasserjian, R. P. (2022) · Blood · doi:10.1182/blood.2022016593 · Cited by 2
Self-citationSachs, Z., Lee, Y., Baughn, L. B., & Myers, C. L. (2023) · Research Square · doi:10.21203/rs.3.rs-3575623/v1 · Cited by 2
Liang, H., Feng, Y., Guo, Y., Jian, J., Zhao, L., Luo, X., Tao, L., & Liu, B. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.1014504 · Cited by 1
Genomic Landscape and Risk Stratification of Acute Myeloid Leukemia
Hou, H. (2023) · Springer eBooks · doi:10.1007/978-981-99-3810-0_5 · Cited by 1
Chen, Y., Zheng, J., Qiu, Y., Wu, Z., Luo, X., Zhu, L.-F., Wu, Y. C., & Lin, Y. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1294037 · Cited by 1
Sperotto, A. A., Stanghellini, M. T. L., Peccatori, J., Marchi, R. D., Piemontese, S., Ciotti, G., Basso, M., Pierdomenico, E., Fiore, P., Ciceri, F., et al. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2023.1291457 · Cited by 1
Sampaio, L. R., Dias, R. D. B., Goes, J. V. C., de Melo, R. P. M., Borges, D. D. P., Melo, M. M. D. L., de Oliveira, R. T. G., Ribeiro, H. L., Magalhães, S. M. M., & Pinheiro, R. F. (2024) · Medical Oncology · doi:10.1007/s12032-024-02376-8 · Cited by 1
Self-citationPatwardhan, P. P., Baloda, V., Amri, R. D. A., Aarabi, M., & Bailey, N. G. (2025) · Journal of Hematopathology · doi:10.1007/s12308-025-00636-8 · Cited by 1
Role of Long-read Sequencing in Comprehensive Genomic Profiling of Hematolymphoid Malignancies
Wainman, L. M., Donnelly, L. L., Kaur, P., Shah, P. S., & Karrs, J. X. (2025) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2025.05.002 · Cited by 1
Wang, W. J., Shen, Q., Tashakori, M., Fang, H., Shuai, W., Lin, P., Zhang, Z., Tang, G., Wang, W., Linden, M. A., et al. (2025) · American Journal of Hematology · doi:10.1002/ajh.70133 · Cited by 1
Testa, U., Castelli, G., & Pelosi, E. (2025) · Hematology Reports · doi:10.3390/hematolrep17060067 · Cited by 1
Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort
Lu, X., Ma, X., Zhang, K., Zhang, S., Fangfang, W., Jiang, H., Jiang, Q., Chang, Y., Huang, X., & Zhao, X. (2026) · Biomedicines · doi:10.3390/biomedicines14010180 · Cited by 1
Uekusa, R., Yokoi, A., Watanabe, E., Inoue, M., Mizuno, K., Yoshida, K., Yoshikawa, N., Niimi, K., Suzuki, S., & Kajiyama, H. (2026) · Frontiers in Oncology · doi:10.3389/fonc.2026.1728766 · Cited by 1
Lee, W., Hou, H., Lin, C., Tsai, X. C.-H., Tien, F., Lo, M., Chang, Y.-S., Peng, Y., Tseng, M., Kuo, Y., et al. (2026) · Blood Cancer Journal · doi:10.1038/s41408-026-01456-4 · Cited by 1
Molecular Pathology of Myeloid Neoplasms
Goulart, H. E., & Loghavi, S. (2026) · Surgical pathology clinics · doi:10.1016/j.path.2026.01.012 · Cited by 1
Lu, C., Matt, G. Y., Paul, R., Wang, J., Sioson, E., Gangwani, K., Acić, A., Willems, A. R., Peraza, A. Z., Reilly, C. A., et al. (2026) · Blood · doi:10.1182/blood.2025032031 · Cited by 1
Pan, Q., Yang, F., Chittipolu, A., Ramanathan, R., Dong, Y., Hyde, R. K., Bhatt, V. R., & Mahato, R. I. (2026) · International Journal of Pharmaceutics · doi:10.1016/j.ijpharm.2026.126832 · Cited by 1
Toribio-Castelló, S., Cadenas, F. L., Preudhomme, C., González, T., Ramiro, Á. V., Fenwarth, L., Xicoy, B., Renneville, A., Sánchez‐García, J., Coll, R., et al. (2026) · HemaSphere · doi:10.1002/hem3.70402 · Cited by 1
Self-citationSun, Y., Liu, J., Chen, J., Xuan, L., Liu, J., Fan, M., Lu, S., Xu, L., Zhang, X., Liu, Q.-F., et al. (2026) · Cancer Letters · doi:10.1016/j.canlet.2026.218724 · Cited by 1
Under pressure: clonal hematopoiesis in patients receiving cancer therapy
Rondeau, V., Cook, E. K., & Vanner, R. J. (2026) · Trends in cancer · doi:10.1016/j.trecan.2026.06.012 · Cited by 1
Controversies in the Management of AML in Older Patients: A Canadian Perspective
Schuh, A. C., Brandwein, J. M., Elsawy, M., Sanford, D., & Leber, B. F. (2026) · Current Oncology · doi:10.3390/curroncol33070431 · Cited by 1
Xin, X., Zheng, C., Huang, J., & Xie, Q. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1918027 · Cited by 1
Ibáñez, M., Such, E., Liquori, A., Avestisyan, G., Andreu, R., Vicente, A., Macián, M. J., Melendez, M. C., Morote-Faubel, M., Cantó, P. A., et al. (2022) · Diagnostics · doi:10.3390/diagnostics12040953 · Cited by 1
Self-citationKim, H., Shin, S., Lee, J.-M., Kim, I., Kim, B., Kim, H., Choi, Y. J., Bae, B., Kim, Y., Ji, E., et al. (2024) · Annals of Laboratory Medicine · doi:10.3343/alm.2024.0351 · Cited by 1
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
