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Retroelements (RE) have been proposed as important players in cancerogenesis. Different cancer types are characterized by a different level of tumor-specific RE insertions. In previous studies, small cohorts of hematological malignancies, such as acute myeloid leukemia, multiple myeloma, and chronic lymphocytic leukemia have been characterized by a low level of RE insertional activity. Acute lymphoblastic leukemia (ALL) in adults and childhood acute leukemias have not been studied in this context. We performed a search for new RE insertions (Alu and L1) in 44 childhood ALL, 14 childhood acute myeloid leukemia, and 14 adult ALL samples using a highly sensitive NGS-based approach. First, we evaluated the method sensitivity revealing the 1% detection threshold for the proportion of cells with specific RE insertion. Following this result, we did not identify new tumor-specific RE insertions in the tested cohort of acute leukemia samples at the established level of sensitivity. Additionally, we analyzed the transcription levels of active L1 copies and found them increased. Thus, the increased transcription of active L1 copies is not sufficient for overt elevation of L1 retrotranspositional activity in leukemia.
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http://dx.doi.org/10.3390/ijms23031756 | DOI Listing |
Food Chem Toxicol
September 2025
Division for Laboratory Investigation and Analysis, Swedish Food Agency, Uppsala, Sweden.
Total diet studies monitor exposure to contaminants from food. This study investigates the intakes of the harmful metals silver (Ag), aluminium (Al), arsenic (As), inorganic As, cadmium (Cd), mercury (Hg), nickel (Ni) and lead (Pb) in Swedish young children, adolescents and adults, and relate them to health-based guidance values (HBGV). Whereas intakes of Ag and Al did not give rise to any concern for adverse health effects, most of the young children had intakes of inorganic As (≥97%), Cd (≥71%) and Ni (≥92%, for acute effects) above the HBGV set by European Food Safety Authority.
View Article and Find Full Text PDFTarget Oncol
September 2025
Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Background: Population pharmacokinetic models can potentially provide suggestions for an initial dose and the magnitude of dose adjustment during therapeutic drug monitoring procedures of imatinib. Several population pharmacokinetic models for imatinib have been developed over the last two decades. However, their predictive performance is still unknown when extrapolated to different populations, especially children.
View Article and Find Full Text PDFPediatr Blood Cancer
September 2025
Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Background: The suppressor of tumorigenesis 2 (ST2) has emerged as one of the most promising biomarkers for predicting mortality of acute graft-versus-host disease (aGvHD) when measured at the onset of symptoms, but detailed time course studies are needed to understand the potential of ST2 as a risk marker of both aGvHD and chronic graft-versus-host disease (cGvHD), potentially allowing pre-emptive adjustment of immunosuppressive treatment.
Procedure: We measured ST2 levels in 117 children undergoing standard hematopoietic stem cell transplantation (HSCT) before conditioning and at regular intervals post-HSCT.
Results: ST2 levels were significantly increased from Day +7 in patients developing aGvHD of any grade (no GvHD: 23.
Biol Open
September 2025
Departments of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, R3T 2N2, Canada.
The GM2 gangliosidoses are lysosomal storage disorders exhibiting a spectrum of neurological phenotypes ranging from childhood death to debilitating adult-onset neurological impairment. To date, no mouse model harbouring a specific human mutation causing GM2 gangliosidosis has been created. We used CRISPR/Cas9 to generate knockin (KI) mice with the common adult-onset Hexa Gly269Ser variant as well as knockout (KO) mice with Hexa mutations expected to cause complete HexA deficiency.
View Article and Find Full Text PDFPediatr Blood Cancer
September 2025
Acute Myeloid Leukemia Sub-Committee, Association of Childhood Leukemia Study (JACLS), Japan.
Background: Relapsed or refractory cases of pediatric acute myeloid leukemia (AML) have poor outcomes despite advancements in chemotherapy and hematopoietic stem cell transplantation (HSCT). While a second HSCT is often a salvage option, its outcomes vary widely, and prognostic factors remain unclear.
Objectives: This study aimed to evaluate outcomes and identify prognostic factors in pediatric patients with AML who underwent multiple HSCTs.