Cited by 135Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processesMultiple and Secondary Primary Cancers

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Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia

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Shih, A. H., Chung, S. S., Dolezal, E. K., Zhang, S.-J., Abdel-Wahab, O. I., Park, C. Y., Nimer, S. D., Levine, R. L., Klimek, V. M.·2013·Haematologica

DOI 10.3324/haematol.2012.076729PMC PMC3669447

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Abstract

Therapy-related myelodysplastic syndromes and acute myelogenous leukemia comprise a poor-risk subset of myelodysplastic syndromes and acute myelogenous leukemia. Large-scale mutation profiling efforts in de novo myelodysplastic syndromes have identified mutations that correlate with clinical features, but such mutations have not been investigated in therapy-related myelodysplastic syndromes and acute myelogenous leukemia. Genomic DNA from 38 patient samples were subjected to high throughput polymerase chain reaction and sequenced for TP53, TET2, DNMT3A, ASXL1, IDH1, IDH2, EZH2, EED, SUZ12, RBBP4, SRSF2, U2AF35, and SF3B1. We identified somatic mutations in 16 of 38 (42%) patients. TP53 mutations were the most common lesion, detected in 8 of 38 (21%) patients, followed by TET2 in 4 of 38 (10.5%). Cases with a TP53 mutation or loss of the TP53 locus had a worse overall survival compared to those with wild-type TP53 (8.8 vs. 37.4 months; P=0.0035).

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Authors: Shih, A. H., Chung, S. S., Dolezal, E. K., Zhang, S.-J., Abdel-Wahab, O. I., Park, C. Y., Nimer, S. D., Levine, R. L., & Klimek, V. M.
Affiliations: Memorial Sloan Kettering Cancer Center (US)
ORCID: Shih, A. H.
Abdel-Wahab, O. I.
Park, C. Y.
Nimer, S. D.
Levine, R. L.
Venue: Haematologica
Publisher: Ferrata Storti Foundation (Haematologica)
Published: 2013-01-24
Volume: 98
Issue: 6
Pages: 908-912
ISSN: 0390-6078 (ISSN-L)
1592-8721
DOI: 10.3324/haematol.2012.076729
PMC: PMC3669447
OpenAlex: W2169313200
Cited by: 135
References: 31
Citations by year: 2026: 2 · 2025: 5 · 2024: 9 · 2023: 8 · 2022: 8 · 2021: 9 · 2020: 15 · 2019: 13 · 2018: 11 · 2017: 14 · 2016: 12 · 2015: 9 · 2014: 14 · 2013: 4
FWCI: 9.32
Type: journal article
Language: en
Open access: gold
doi.org
Locations: Haematologica (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders: Dana Foundation
American Society of Hematology
Leukemia and Lymphoma Society
Memorial Sloan-Kettering Cancer Center
National Institutes of Health
National Cancer Institute (R01CA138234, U54CA143798, P30CA008748)
Topics: Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
Keywords: therapy-related myelodysplastic syndrome, somatic mutations, TP53 mutation, TET2, DNMT3A, ASXL1, IDH1, IDH2, EZH2, SUZ12, RBBP4, SRSF2, U2AF35, SF3B1, p53 deficiency, overall survival, prognostic factors
MeSH terms: Adult, Aged, Aged, 80 and over, Antineoplastic Combined Chemotherapy Protocols, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Prognosis, Radiotherapy, Leukemia, Myeloid, Acute, Tumor Suppressor Protein p53, Mutation Rate

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Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia

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