A 61-year-old man was admitted to our hospital with fever and massive leukocytosis. A bone marrow smear revealed an increased density of myeloid cells in various stages of maturation as well as dysplasia in the neutrophils. There was no proliferation of blasts, eosinophils, or basophils. Genomic analysis of the bone marrow cells revealed no detectable abnormalities associated with myeloproliferative neoplasms, including BCR-ABL1. Therefore, the patient was diagnosed with atypical chronic myeloid leukemia (aCML). Chromosomal analysis revealed the presence of 1-17 double minute chromosomes (dmin) in 20 of 20 tumor cells examined. Multiple MYC signals were detected via interphase fluorescence in situ hybridization, indicating MYC gene amplification in the dmins. Three months after the oral administration of hydroxyurea, leukocytosis reoccurred. Therefore, induction therapy followed with umbilical cord blood transplantation was performed. However, MYC signals remained detectable in the bone marrow sample obtained immediately after neutrophil engraftment, indicating the presence of residual tumor cells. To the best of our knowledge, this is the first case report of aCML with dmin gene amplification, suggesting that the dmin MYC amplification exacerbated the patient's disease.
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http://dx.doi.org/10.11406/rinketsu.60.1538 | DOI Listing |
NPJ Antimicrob Resist
January 2025
Département de Biochimie, de Microbiologie et de Bio-informatique, Faculté des Sciences et de Génie, Université Laval, Québec City, G1V 0A6 Canada.
Faced with the burden of increasing resistance to antifungals in many fungal pathogens and the constant emergence of new drug-resistant strains, it is essential to assess the importance of various resistance mechanisms. Fungi have relatively plastic genomes and can tolerate genomic copy number variation (CNV) caused by aneuploidy and gene amplification or deletion. In many cases, these genomic changes lead to adaptation to stressful conditions, including those caused by antifungal drugs.
View Article and Find Full Text PDFBull Entomol Res
January 2025
Ningxia Academy of Agriculture and Forestry Sciences, Institute of Plant Protection, Yinchuan, China.
Insect odorant-binding proteins (OBPs) are the key proteins in insect olfactory perception and play an important role in the perception and discrimination of insects. is a polyphagous pest and seriously harms the quality and yield of fruits, flowers and crops worldwide. Therefore, the discovery of OBPs has greatly improved the understanding of behavioural response that mediates the chemoreception of .
View Article and Find Full Text PDFNat Chem Biol
January 2025
Department of Biomedical Engineering, Duke University, Durham, NC, USA.
Engineering cells to sense and respond to environmental cues often focuses on maximizing gene regulation at the single-cell level. Inspired by population-level control mechanisms like the immune response, we demonstrate dynamic control and amplification of gene regulation in bacterial populations using programmable plasmid-mediated gene transfer. By regulating plasmid loss rate, transfer rate and fitness effects via Cas9 endonuclease, F conjugation machinery and antibiotic selection, we modulate the fraction of plasmid-carrying cells, serving as an amplification factor for single-cell-level regulation.
View Article and Find Full Text PDFSci Rep
January 2025
Center of Elephant and Wildlife Health, Animal Hospital, Faculty of Veterinary Medicine, Chiang Mai University, Chiang Mai, 50100, Thailand.
Colic and diarrhea are common gastrointestinal (GI) disorders in captive Asian elephants, which can severely impact health and lead to mortality. Gut dysbiosis, indicated by alterations in gut microbiome composition, can be observed in individuals with GI disorders. However, changes in gut microbial profiles of elephants with GI disorders have never been investigated.
View Article and Find Full Text PDFExp Eye Res
January 2025
Genetic Diagnosis Unit, Institute for Rare Diseases Research (IIER), Carlos III Institute of Health (ISCIII), Madrid, Spain; Center for Biomedical Research on Rare Diseases Network, Carlos III Institute of Health (ISCIII), Madrid, Spain (U758; CB06/07/1009; CIBERER-ISCIII).
Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.
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