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Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution.
Cell
January 2025
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton CB10 1SA, UK. Electronic address:
Osteosarcoma is the most common primary cancer of the bone, with a peak incidence in children and young adults. Using multi-region whole-genome sequencing, we find that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of osteosarcomas. Chromothripsis generates highly unstable derivative chromosomes, the ongoing evolution of which drives the acquisition of oncogenic mutations, clonal diversification, and intra-tumor heterogeneity across diverse sarcomas and carcinomas.
View Article and Find Full Text PDFSynchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis.
Diagn Pathol
January 2025
Laboratoire Hospitalier Universitaire de Bruxelles - Universitair Laboratorium Brussel, Université Libre de Bruxelles LHUB-ULB, Brussels, Belgium.
Background: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations.
View Article and Find Full Text PDFAssessment of the pathogenicity of Y. enterocolitica B1A isolates from San Luis, Argentina.
Gene
January 2025
Área Microbiología e Inmunología, Facultad de Química, BioquímicaArgentina y Farmacia, Universidad Nacional de San Luis, Ejercito de los Andes 950, P. O. 5700 San Luis, Argentina. Electronic address:
Yersinia enterocolitica, a bacterial enteropathogen that produces a variety of clinical manifestations in humans, includes six biotypes (B), called 1A, 1B, 2, 3, 4 and 5 and about 70 serotypes. The biotypes exhibit diverse pathogenic potential; while 1B and 2-5 may show ability to produce clinical symptoms due to the presence of chromosomal and plasmid (pYV) virulence genes, B1A is supposed a non-pathogenic biotype since it lacks pYV plasmid. Therefore, although B1A strains cause diarrhea in humans, their pathogenic potential has not yet been extensively studied.
View Article and Find Full Text PDFA new Drosophila melanogaster research resource: CRISPR-induced mutations for clonal analysis of fourth chromosome genes.
G3 (Bethesda)
January 2025
School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.
As part of an ongoing effort to generate comprehensive resources for the experimental analysis of fourth chromosome genes in Drosophila melanogaster, the Fourth Chromosome Resource Project has used CRISPR mutagenesis with single guide RNAs to isolate mutations in 62 of the 80 fourth chromosome, protein-coding genes. These mutations were induced on a fourth chromosome bearing a basal FRT insertion to facilitate experimental approaches involving FLP recombinase-induced mitotic recombination. To permit straightforward comparisons among mutant stocks, most of the mutations were generated on isogenic fourth chromosomes, which were then crossed into a common genetic background.
View Article and Find Full Text PDFIn Vitro Effect of Estrogen and Progesterone on Cytogenetic Profile of Uterine Leiomyomas.
Int J Mol Sci
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 St. Petersburg, Russia.
In the present study, we aimed to investigate intratumoral karyotype diversity as well as the estrogen/progesterone effect on the cytogenetic profile of uterine leiomyomas (ULs). A total of 15 UL samples obtained from 15 patients were cultured in the media supplemented with estrogen and/or progesterone and without adding hormones. Conventional cytogenetic analysis of culture samples revealed clonal chromosomal abnormalities in 11 out of 15 ULs.
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