ArticleOncotarget2016
Targeted deep sequencing improves outcome stratification in chronic myelomonocytic leukemia with low risk cytogenetic features.
Article 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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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Prognostic heterogeneity in ASXL1-mutated AML and refinement by an immunophenotype-based score.Frontiers in oncology · 2026Article
- Myelodysplastic Syndrome: Clinical Characteristics and Significance of Preclinically Detecting Biallelic Mutations in theLife (Basel, Switzerland) · 2024Article
- Kidney and Urinary Tract Involvement in Chronic Myelomonocytic Leukemia.Kidney medicine · 2024Review
- Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.Molecular biology reports · 2023Article
- Myeloid leukemoid reaction after initial azacitidine therapy for chronic myelomonocytic leukemia.International journal of hematology · 2022Article
- Phenotypic characterization of leukemia-initiating stem cells in chronic myelomonocytic leukemia.Leukemia · 2021Article
- Clinical and Molecular Approach to Adult-Onset, Neoplastic Monocytosis.Current hematologic malignancy reports · 2021Review
- Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.Blood cancer discovery · 2021Article
- Review
- Review
- Analysis of Intratumoral Heterogeneity in Myelodysplastic Syndromes with Isolated del(5q) Using a Single Cell Approach.Cancers · 2021Article
- Engaging chromatin: PRC2 structure meets function.British journal of cancer · 2020Review
- Proposed diagnostic criteria for classical chronic myelomonocytic leukemia (CMML), CMML variants and pre-CMML conditions.Haematologica · 2019Review
- Update on the pathologic diagnosis of chronic myelomonocytic leukemia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Review
- Clonal Hematopoiesis with Oncogenic Potential (CHOP): Separation from CHIP and Roads to AML.International journal of molecular sciences · 2019Review
- Heterogeneous expression of cytokines accounts for clinical diversity and refines prognostication in CMML.Leukemia · 2019Article
- Infrequent occurrence of TET1, TET3, and ASXL2 mutations in myelodysplastic/myeloproliferative neoplasms.Blood cancer journal · 2018Article
- DNA methylation profile in chronic myelomonocytic leukemia associates with distinct clinical, biological and genetic features.Epigenetics · 2018Article
- Oligomonocytic chronic myelomonocytic leukemia (chronic myelomonocytic leukemia without absolute monocytosis) displays a similar clinicopathologic and mutational profile to classical chronic myelomonocytic leukemia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clonal cytogenetic abnormalities are found in 20-30% of patients with chronic myelomonocytic leukemia (CMML), while gene mutations are present in >90% of cases. Patients with low risk cytogenetic features account for 80% of CMML cases and often fall into the low risk categories of CMML prognostic scoring systems, but the outcome differs considerably among them. We performed targeted deep sequencing of 83 myeloid-related genes in 56 CMML patients with low risk cytogenetic features or uninformative conventional cytogenetics (CC) at diagnosis, with the aim to identify the genetic characteristics of patients with a more aggressive disease. Targeted sequencing was also performed in a subset of these patients at time of acute myeloid leukemia (AML) transformation. Overall, 98% of patients harbored at least one mutation. Mutations in cell signaling genes were acquired at time of AML progression. Mutations in ASXL1, EZH2 and NRAS correlated with higher risk features and shorter overall survival (OS) and progression free survival (PFS). Patients with SRSF2 mutations associated with poorer OS, while absence of TET2 mutations (TET2wt) was predictive of shorter PFS. A decrease in OS and PFS was observed as the number of adverse risk gene mutations (ASXL1, EZH2, NRAS and SRSF2) increased. On multivariate analyses, CMML-specific scoring system (CPSS) and presence of adverse risk gene mutations remained significant for OS, while CPSS and TET2wt were predictive of PFS. These results confirm that mutation analysis can add prognostic value to patients with CMML and low risk cytogenetic features or uninformative CC.
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