The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations
Open accessAbstract
Acute myeloid leukemia (AML) can develop after an antecedent myeloid malignancy (secondary AML [s-AML]), after leukemogenic therapy (therapy-related AML [t-AML]), or without an identifiable prodrome or known exposure (de novo AML). The genetic basis of these distinct pathways of AML development has not been determined. We performed targeted mutational analysis of 194 patients with rigorously defined s-AML or t-AML and 105 unselected AML patients. The presence of a mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of s-AML. Analysis of serial samples from individual patients revealed that these mutations occur early in leukemogenesis and often persist in clonal remissions. In t-AML and elderly de novo AML populations, these alterations define a distinct genetic subtype that shares clinicopathologic properties with clinically confirmed s-AML and highlights a subset of patients with worse clinical outcomes, including a lower complete remission rate, more frequent reinduction, and decreased event-free survival. This trial was registered at www.clinicaltrials.gov as #NCT00715637.
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“Particularly in acute myeloid leukemia (AML), a prominent component of the disease is recurrent mutations in spliceosome machinery and genome-wide aberrant splicing events (14)(15)(16)(17).”
From Discovery of a Novel CIP2A Variant (NOCIVA) with Clinical Relevance in Predicting TKI Resistance in Myeloid Leukemias (2021) · cites this paper as [15]
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Cites
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Self-citationLandscape of genetic lesions in 944 patients with myelodysplastic syndromes
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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
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Self-citationTP53 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
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Metadata
- Authors
- 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., Damon, L. E., Powell, B. L., Lindeman, N., Steensma, D. P., Wadleigh, M., DeAngelo, D. J., Neuberg, D., Stone, R. M., & Ebert, B. L.
- Affiliations
- Department of Medical Oncology, Division of Hematological Malignancies,
- Department of Pediatric Oncology, and
- Dana-Farber Cancer Institute (US)
- Brigham and Women's Hospital (US)
- Hofstra University (US)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Roswell Park Comprehensive Cancer Center (US)
- Medical University of South Carolina (US)
- University of Alabama at Birmingham (US)
- University of California, San Francisco (US)
- Wake Forest University (US)
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2015-02-26
- Volume
- 125
- Issue
- 9
- Pages
- 1367-1376
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC4342352
- OpenAlex
- W2107027906
- Cited by
- 991
- References
- 33
- Citations by year
- 2026: 45 · 2025: 78 · 2024: 101 · 2023: 123 · 2022: 120 · 2021: 108 · 2020: 90 · 2019: 89 · 2018: 67 · 2017: 67 · 2016: 65 · 2015: 34
- FWCI
- 39.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Leukemia and Lymphoma Society
- Harvard Catalyst
- Edward P. Evans Foundation
- Lady Tata Memorial Trust
- National Institutes of Health
- National Heart, Lung, and Blood Institute (R01HL082945)
- National Cancer Institute (P01CA108631, T32CA009172, P30CA016056, P01CA066996)
- National Institute of General Medical Sciences (T32GM007753)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- acute myeloid leukemia, secondary acute myeloid leukemia, therapy-related AML, de novo AML, somatic mutations, SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, STAG2, leukemogenesis, complete remission, event-free survival, prognostic factors
- MeSH terms
- Serine-Arginine Splicing Factors, Enhancer of Zeste Homolog 2 Protein, RNA Splicing Factors, Splicing Factor U2AF, Cohesins, DNA Mutational Analysis, Follow-Up Studies, Humans, Mutation, Neoplasm Staging, Nuclear Proteins, Phosphoproteins, Prognosis, Prospective Studies, Proto-Oncogene Proteins, Remission Induction, Repressor Proteins, Ribonucleoproteins, Biomarkers, Tumor, Leukemia, Myeloid, Acute, Survival Rate, Neoplasms, Second Primary, Ribonucleoprotein, U2 Small Nuclear, Cell Cycle Proteins, Antigens, Nuclear, Polycomb Repressive Complex 2
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