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U2AF1 mutation causes an oxidative stress and DNA repair defect in hematopoietic and leukemic cells.

Free Radic Biol Med

January 2025

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Cell Therapy for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300030, China; Tianjin Institutes of Health Science, Tianjin, 301617, China. Electronic address:

U2AF1 is a core component of spliceosome and controls cell-fate specific alternative splicing. U2AF1 mutations have been frequently identified in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) patients, and mutations in U2AF1 are associated with poor prognosis in hematopoietic malignant diseases. Here, by forced expression of mutant U2AF1 (U2AF1 S34F) in hematopoietic and leukemic cell lines, we find that U2AF1 S34F causes increased reactive oxygen species (ROS) production.

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Article Synopsis
  • Chronic myelomonocytic leukemia (CMML) is a complex blood cell disorder that combines poorly functioning and overproducing blood cells, leading to various symptoms.
  • The case study focuses on a 71-year-old man with severe CMML who experienced skin nodules that improved with treatment but later recurred, while avoiding progression to acute leukemia.
  • The findings emphasize the importance of close monitoring and flexible treatment approaches for patients with CMML, especially those with skin involvement.
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Patients who develop acute myeloid leukemia (AML) after having received treatment for myelodysplastic syndrome (MDS) or related conditions have particularly poor outcomes. This study analyzed adult patients with newly diagnosed AML who previously had MDS, chronic myelomonocytic leukemia (CMML), or MDS/myeloproliferative neoplasm (MPN) overlap syndrome, and who had received hypomethylating agents, chemotherapy, and/or allogeneic stem cell transplantation (HSCT) for these antecedent disorders. From January 2012 to August 2023, we included 673 patients with a median age of 70 years (range, 19-94); 536 (80%) had transformed from MDS, and the remainder from CMML or MDS-MPN.

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Positivity of antiphosphatidylserine/prothrombin antibodies identifies a subgroup of more severe antiphospholipid syndrome patients.

Clin Exp Rheumatol

January 2025

Laboratoire d'Immunologie, AP-HP, Hôpital Européen Georges Pompidou, Paris; and Inflammation, Complement, and Cancer, Université Paris Cité, INSERM, UMRS 1138, Cordeliers Research Center, Team Paris, France.

Objectives: Antiphospholipid syndrome (APS) is an autoimmune disease combining the occurrence of thrombotic and/or obstetric events with the persistent presence of antiphospholipid antibodies (i.e. lupus anticoagulant (LA), anti-cardiolipin (aCL) and anti-beta-2-glycoprotein I (aβ2GPI) antibodies).

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