The CEBPA gene codes for a transcription factor that has a pivotal role in controlling proliferation and differentiation of myeloid progenitors. Acquired CEBPA mutations have been found in acute myeloid leukemias (AML) with a good prognosis, and most of these patients have a normal karyotype. In this paper, we report four cases that displayed the same K313dup in the CEBPA gene. All four had an AML-M1 with CD7 positivity and T-cell receptor gamma chain (TCR-gamma) rearrangement. This mutation could represent nearly 10% of all CEBPA mutations described to date. K313dup disappeared in samples from patients in complete remission. In transfected cells, the K313dup mutant had reduced protein stability with respect to the wild-type protein. K313dup seems to be selected in leukemic cells, and its frequency in other AML series could be determined using the screening method reported in this paper.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00277-008-0528-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cell type-specific upregulation of NKG2D ligand MICA in response to APTO253.
Ann Transl Med
December 2024
Institute for Tumor Immunology, Center for Tumor Biology and Immunology, Philipps-University Marburg, Marburg, Germany.
One of the most important targets for natural killer (NK) cell-mediated therapy is the induction of natural killer group 2D ligand (NKG2D-L) expression. APTO253 is a small molecule that selectively kills acute myeloid leukemia (AML) cells, and it has been reported that APTO253 can induce Krüppel-like factor 4 (KLF4) expression and downregulate c-MYC expression. Recently, we discovered a novel role of APTO253 in modulating the NK cell response by inducing surface expression of NKG2D-Ls, especially MHC class I polypeptide-related sequence A (MICA), in AML cells.
View Article and Find Full Text PDFPotential effects of liver dysfunction at the time of diagnosis in patients with acute myeloid leukemia.
Exp Ther Med
February 2025
Department of Hematology, Etlik City Hospital, Ankara 06170, Turkey.
Whilst severe liver dysfunction is rarely encountered at the time of diagnosis for patients with acute myeloid leukemia (AML), mild elevations aminotransferase (<5 times the upper limit of normal) may be more frequently seen. Liver dysfunction at the time of diagnosis of AML is a parameter that requires investigation and can assist the clinicians in predicting prognosis. The aim of the present study was to investigate liver dysfunction at the time of diagnosis using the assoicated parameters in patients with AML.
View Article and Find Full Text PDFCellular automata modelling of leukaemic stem cell dynamics in acute myeloid leukaemia: insights into predictive outcomes and targeted therapies.
R Soc Open Sci
January 2025
Department of Anatomy, Kanazawa Medical University, Uchinada, Ishikawa 9200293, Japan.
Acute myeloid leukaemia (AML) is a haematologic malignancy with high relapse rates in both adults and children. Leukaemic stem cells (LSCs) are central to leukaemopoiesis, treatment response and relapse and frequently associated with measurable residual disease (MRD). However, the dynamics of LSCs within the AML microenvironment is not fully understood.
View Article and Find Full Text PDFIsolated Central Nervous System Infiltrated and Progressed to Acute Myeloid Leukemia from Chronic Myeloid Leukemia with e1a3 BCR-ABL1 Transcript: A Rare Case Report and Literature Review.
Cancer Manag Res
January 2025
Medical Center of Hematology, Xinqiao Hospital, Army Medical University, Chongqing, People's Republic of China.
The chronic myeloid leukemia (CML) is easily diagnosed by laboratory examination, however, rare BCR-ABL1 mRNA transcripts variants, such as e1a3 present diagnosis and therapeutic challenges. This case report details the diagnosis and management of a CML patient with the e1a3 transcript by FISH and RT-PCR. Following initial diagnosis, the patient was treated with the tyrosine kinase inhibitor (TKI) Flumatinib.
View Article and Find Full Text PDFA 31-year-old male with a plasmacytoid dendritic blast cell neoplasm.
Ecancermedicalscience
November 2024
Internal Medicine Service, Sanatorio Sagrado Corazón, Buenos Aires, CP 1039, Argentina.
Plasmacytoid blast dendritic cell neoplasm is a rare subtype of acute leukaemia that represents less than 1% of haematologic neoplasms. It is characterised by skin involvement and leukaemic dissemination in the rest of the body. The immunophenotype is represented by the expression of CD4, CD56 and CD123.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!