Objectives: Increasing number of studies suggested that biallelic CEBPA (bi CEBPA) mutations were associated with favorable prognosis in patients with acute myeloid leukemia (AML), but the results remain inconclusive. We therefore present a meta-analysis to evaluate the prognostic value of bi CEBPA mutations in patients with AML.
Methods: A comprehensive literature search was undertaken through August 2014 looking for eligible studies. Pooled hazard ratios (HRs) estimates and 95% confidence intervals (95% CIs) in overall survival (OS) and event-free survival (EFS) were used to calculate estimated effect.
Results: Ten studies covering a total of 6219 subjects were included in this analysis. Overall, bi CEBPA mutations were associated with favorable clinical outcome in patients with AML (HR for EFS: 0.41, 95% CI: 0.32-0.52; for OS: 0.37, 95% CI: 0.27-0.50), in cytogenetically normal (CN)-AML (HR for EFS: 0.38, 95% CI: 0.29-0.49; for OS: 0.32, 95% CI: 0.23-0.43). When took the cohort of monoallelic CEBPA (mo CEBPA) mutated and wild-type CEBPA (wt CEBPA) AML as a reference group, bi CEBPA mutated AML also shown beneficial outcomes (HR for OS: 0.52, 95% CI: 0.37-0.72). No significant difference was found between mo CEBPA mutation and wt CEBPA in patients with AML or CN-AML (P > 0.05).
Conclusion: Bi CEBPA mutations in patients with AML are strongly associated with a favorable prognosis, which suggested that bi CEBPA mutations would potentially serve as a novel prognostic marker in AML.
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http://dx.doi.org/10.1111/ejh.12450 | DOI Listing |
Clin Exp Med
January 2025
Medical Center of Hematology, Xinqiao Hospital of Army Medical University; Chongqing Key Laboratory of Hematology and Microenvironment; State Key Laboratory of Trauma and Chemical Poisoning, Army Medical University, Chongqing, No.83 Xinqiao Main Street, Shapingba District, 400037, China.
The aim of this study was to investigate the clinical features and outcomes of elderly patients with acute myeloid leukemia (AML) from a real word research. The clinical data of 223 consecutive elderly patients (aged ≥ 60 years) who were newly diagnosed with AML at our medical center between July 2017 and June 2022, including their clinical characteristics, genetic mutations, and survival outcomes, were retrospectively analyzed. Among the 223 patients (median age 67 years), 180 (80.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Hematology, The First Affiliated Hospital of Bengbu Medical University, Bengbu 233000, Anhui Province, China.
Objective: To explore the characteristics of gene mutation in patients with myelodysplastic syndrome (MDS) and its correlation with clinical features.
Methods: From January 2017 to December 2021, 172 patients with MDS in The First Affiliated Hospital of Bengbu Medical University were analyzed retrospectively. Fourteen high frequency genes related to MDS were detected, and the relationship between gene mutation and clinical characteristics of patients as well as revised International Prognostic Scoring System (IPSS-R) was analyzed.
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Peking University,Beijing 100044, China.
Objective: To evaluate the gene mutation profile and prognostic significance of adult cytogenetically normal acute myeloid leukemia (CN-AML) with mutation.
Methods: Targeted sequencing was implemented on the diagnostic bone marrow DNA samples of 141 adult CN-AML subjects with mutation. The nomogram model for leukemia-free survival (LFS) rate was generated by combining genetic abnormalities and clinical data.
Mol Ther
November 2024
Department of Oncology, Hematology, Clinical Immunology and Rheumatology, University Hospital Tuebingen, 72076 Tuebingen, Germany; Gene and RNA Therapy Center (GRTC), Tuebingen University, 72076 Tuebingen, Germany. Electronic address:
Severe congenital neutropenia (CN) patients require life-long treatment with recombinant human granulocyte colony-stimulating factor (rhG-CSF), but some show no response. We sought to establish a therapy for CN that targets signaling pathways causing maturation arrest of granulocytic progenitors. We developed an isogenic induced pluripotent stem cell (iPSC) in vitro model of CN associated with ELANE mutations (ELANE-CN) and performed an in silico drug repurposing analysis of the transcriptomics of iPSC-generated hematopoietic stem and progenitor cells.
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