ArticleHaematologica2015
Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol.
Article in Haematologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 53 citations in OpenAlex.
- Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.Blood · 2016Trial
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- Clonal hematopoiesis of indeterminate potential in patients with immunoglobulin light-chain AL amyloidosis.Blood advances · 2024Article
- Whole-exome sequencing is feasible on a fresh-frozen skin sample of intravascular large B cell lymphoma.Clinical and experimental medicine · 2024Article
- The Interplay between Dysregulated Metabolism and Epigenetics in Cancer.Biomolecules · 2023Review
- Pathological and genomic features of myeloproliferative neoplasms associated with splanchnic vein thrombosis in a single-center cohort.Annals of hematology · 2023Review
- High Frequency of ASXL1 and IDH Mutations in Young Acute Myeloid Leukemia Egyptian Patients.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- BCOR gene alterations in hematologic diseases.Blood · 2021Review
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- Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.Molecular oncology · 2021Article
- Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome.Clinical epigenetics · 2021Article
- The molecular pathogenesis of multiple myeloma.Hematology reports · 2020Article
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- Next-Generation Sequencing for Clinical Management of Multiple Myeloma: Ready for Prime Time?Frontiers in oncology · 2020Review
- Exploiting metabolic vulnerabilities for personalized therapy in acute myeloid leukemia.BMC biology · 2019Review
- Tumor suppressor TET2 promotes cancer immunity and immunotherapy efficacy.The Journal of clinical investigation · 2019Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 3 countries.
Funding
Abstract
Prognostic stratification is critical for making therapeutic decisions and maximizing survival of patients with acute myeloid leukemia. Advances in the genomics of acute myeloid leukemia have identified several recurrent gene mutations whose prognostic impact is being deciphered. We used HaloPlex target enrichment and Illumina-based next generation sequencing to study 24 recurrently mutated genes in 42 samples of acute myeloid leukemia with a normal karyotype. Read depth varied between and within genes for the same sample, but was predictable and highly consistent across samples. Consequently, we were able to detect copy number changes, such as an interstitial deletion of BCOR, three MLL partial tandem duplications, and a novel KRAS amplification. With regards to coding mutations, we identified likely oncogenic variants in 41 of 42 samples. NPM1 mutations were the most frequent, followed by FLT3, DNMT3A and TET2. NPM1 and FLT3 indels were reported with good efficiency. We also showed that DNMT3A mutations can persist post-chemotherapy and in 2 cases studied at diagnosis and relapse, we were able to delineate the dynamics of tumor evolution and give insights into order of acquisition of variants. HaloPlex is a quick and reliable target enrichment method that can aid diagnosis and prognostic stratification of acute myeloid leukemia patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.