ReviewOncotarget2016
Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.
Review in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed.
- Molecular Genetic Analysis of Bone Marrow Core Biopsy as an Alternative or Adjunct to Bone Marrow Aspirate and/or Peripheral Blood in Hematologic Myeloid Neoplasms.Diagnostics (Basel, Switzerland) · 2025Article
- The Role of DNMT Methyltransferases and TET Dioxygenases in the Maintenance of the DNA Methylation Level.Biomolecules · 2024Review
- Targeted NGS on sequential bone marrow biopsies aids in the evaluation of cytopenias and monocytosis and documents clonal evolution-a proof of principle study.Virchows Archiv : an international journal of pathology · 2023Article
- Chromosome 2q gain and epigenetic silencing of GATA3 in microglandular adenosis of the breast.The journal of pathology. Clinical research · 2021Article
- Review
- Engaging chromatin: PRC2 structure meets function.British journal of cancer · 2020Review
- Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.Cancers · 2019Article
- Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.BMC cancer · 2019Article
- Getting personal with myelodysplastic syndromes: is now the right time?Expert review of hematology · 2019Review
- The Progress of Next Generation Sequencing in the Assessment of Myeloid MalignanciesBalkan medical journal · 2019Article
- Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia.Cancer medicine · 2019Article
- The Role of New Technologies in Myeloproliferative Neoplasms.Frontiers in oncology · 2019Review
- Activating human epidermal growth factor receptor 2 (HER2) gene mutation in bone metastases from breast cancer.Virchows Archiv : an international journal of pathology · 2018Article
- Molecular defects in BRAF wild-type ameloblastomas and craniopharyngiomas-differences in mutation profiles in epithelial-derived oropharyngeal neoplasms.Virchows Archiv : an international journal of pathology · 2018Article
- Fibrotic progression in Polycythemia vera is associated with early concomitant driver-mutations besides JAK2.Leukemia · 2018Article
- Estrogen receptor (ESR1) mutation in bone metastases from breast cancer.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Predicting Chemotherapy Resistance in AML.Current hematologic malignancy reports · 2017Review
- SystematicBlood advances · 2017Article
- Subclonal analysis in a lobular breast cancer with classical and solid growth pattern mimicking a solid-papillary carcinoma.The journal of pathology. Clinical research · 2017Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microscopic examination of myelodysplastic syndromes (MDS) and myelodysplastic-myeloproliferative neoplasms (MDS/MPN) may be challenging because morphological features can overlap with those of reactive states. Demonstration of clonal hematopoiesis provides a diagnostic clue and has become possible by comprehensive mutation profiling of a number of frequently mutated genes, some of them with large coding regions.To emphasize the potential benefit of NGS in hematopathology we present sequencing results from routinely processed formalin-fixed and paraffin-embedded (FFPE) bone marrow trephines (n = 192). A customized amplicon-based gene panel including 23 genes frequently mutated in myeloid neoplasms was established and implemented. Thereby, 629,691 reads per sample (range 179,847-1,460,412) and a mean coverage of 2,702 (range 707-6,327) could be obtained, which are sufficient for comprehensive mutational profiling. Seven samples failed in sequencing (3.6%). In 185 samples we found in total 269 pathogenic variants (mean 1.4 variants per patient, range 0-5), 125 Patients exhibit at least one pathogenic mutation (67.6%). Variants show allele frequencies ranging from 6.7% up to 95.7%. Most frequently mutated genes were TET2 (28.7%), SRSF2 (19.5%), ASXL1 (8.6%) and U2AF1 (8.1%). The mutation profiling increases the diagnostic precision and adds prognostic information.
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