Acute promyelocytic leukemia (APL) is a rare and aggressive form of acute myeloid leukemia (AML). Instead of cytotoxic chemotherapy, a combination of all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) represents front-line therapy in low-risk patients. However, the therapeutic approach could be challenging in the case of a concomitant diagnosis of Brugada syndrome (BrS), a genetic disease characterized by an increased risk of arrhythmias and sudden cardiac death. Here, we present the case of a BrS patient who has been diagnosed with low-risk APL and treated with ATRA and ATO without observing arrhythmic events. In particular, we highlight the difficulties encountered by clinicians during the diagnostic work-up and the choice of the best treatment for these patients.
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http://dx.doi.org/10.3390/hematolrep15030045 | DOI Listing |
Background: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.
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November 2024
Department of Biology, École Normale Supérieure, 46 rue d'Ulm, 75005 Paris, France.
Acute Promyelocytic Leukaemia (APL) arises from an aberrant chromosomal translocation involving the Retinoic Acid Receptor Alpha (RARA) gene, predominantly with the Promyelocytic Leukaemia (PML) or Promyelocytic Leukaemia Zinc Finger (PLZF) genes. The resulting oncoproteins block the haematopoietic differentiation program promoting aberrant proliferative promyelocytes. Retinoic Acid (RA) therapy is successful in most of the PML::RARA patients, while PLZF::RARA patients frequently become resistant and relapse.
View Article and Find Full Text PDFNat Commun
January 2025
State Key Laboratory of Bioactive Substance and Function of Natural Medicines, NHC Key Laboratory of Biotechnology of Antibiotics, Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Acute myeloid leukemia (AML) featuring retinoic acid receptor-gamma (RARG) rearrangements exhibits morphological features resembling those of acute promyelocytic leukemia but is associated with drug resistance and poor clinical outcomes. However, the mechanisms underlying the role of RARG fusions in leukemogenesis remain elusive. Here, we show that RARG fusions disrupt myeloid differentiation and promote proliferation and self-renewal of hematopoietic stem and progenitor cells (HSPCs) by upregulating BCL2 and ATF3.
View Article and Find Full Text PDFNat Commun
January 2025
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, 215006, China.
Acute myeloid leukemia (AML) with retinoic acid receptor gamma (RARG) fusions, which exhibits clinical features resembling acute promyelocytic leukemia (APL), has been identified as a new subtype with poor clinical outcomes. The underlying mechanism of RARG-fusion leukemia remains poorly understood, and needs to be explored urgently to instruct developing effective therapeutic strategies. Here, using the most prevalent RARG fusion, CPSF6-RARG (CR), as a representative, we reveal that the CR fusion, enhances the expansion of myeloid progenitors, impairs their maturation and synergizes with RAS mutations to drive more aggressive myeloid malignancies.
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January 2025
Department of Rehabilitation Medicine, School of Health, Fujian Medical University, Fuzhou, 350122, China; Department of Orthopaedics, Fujian Provincial Institute of Orthopaedics, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China. Electronic address:
Constrained by detecting techniques, patients with acute promyelocytic leukemia (APL) are often confronted with minimal residual disease (MRD) and a high risk of relapse. Thus, a pragmatic and robust method for MRD monitoring is urgently needed. Herein, a novel split-type electrochemical sensor (E-sensor) was developed by integrating nucleic acid sequence-based amplification (NASBA) with enzyme-linked magnetic microbeads (MMBs) for ultra-sensitive detection of the PML/RARα transcript.
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