Human multiple myeloma (MM) cell lines are widely used to investigate chromosome rearrangements typical for this disease. However, during cell cultivation both numeral and structural chromosome rearrangements usually take place in addition to changes of structural and functional status of particular chromosome regions. We investigated karyotype and morpho-functional status of nucleolar organizer regions (NORs) in human cell line MM U-266. Cytogenetic analysis (G-banding) showed karyotypic stability and balanced chromosome set in hypodiploid (n = 44) U-266 cells. We found the presence of rearranged chromosomes, typical for U-266, which retained throughout many year cell cultivation. At the same time, further chromosome rearrangements were shown, along with a tendency of cells to polyploidization. Using FISH (rDNA-probe) and AgNOR-staining techniques, we found that only 4 of 8 NORS were Ag positive (AgNOR), whose dimensions varied from 1 to 3 units of arbitrary scale (u.a.s.). The average summarized AgNOR size was 7.19 +/- 0.03 u.a.s. Peculiarities of the NOR morpho-functional status in U-266 cells are discussed.
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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 PDFGenes Chromosomes Cancer
January 2025
Sahlgrenska Center for Cancer Research, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
Pleomorphic adenoma (PA) is the most common salivary gland tumor. PAs are characterized by chromosomal rearrangements of 8q12 and 12q14-15, leading to gene fusions involving the PLAG1 and HMGA2 oncogenes. Here, we performed the first comprehensive study of the transcriptomic and gene fusion landscape of 38 cytogenetically characterized PAs.
View Article and Find Full Text PDFDiagn 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 PDFInversion of chromosome 16 [inv(16)] is one of the most common chromosomal rearrangements in Acute Myeloid Leukemia (AML) and generates the fusion gene , which initiates leukemogenesis. Patients with inv(16) at diagnosis invariably have the rearrangement at relapse, leading to the assumption that is required after leukemic transformation. However, this has yet to be shown experimentally.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Cancer Biology, Maria Sklodowska-Curie National Research Institute of Oncology, Roentgena 5, 02-781 Warszawa, Poland.
High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) is a rare germi-nal centre lymphoma characterised by a typical gain/loss pattern on chromo-some 11q but without MYC translocation. It shares some features with Burkitt lymphoma (BL), HGBCLs and germinal centre-derived diffuse large B-cell lym-phoma, not otherwise specified (GCB-DLBCL-NOS). Since microRNA expression in HGBCL-11q remains unknown, we aimed to identify and compare the mi-croRNA expression profiles in HGBCL-11q, BL and in GCB-DLBCL-NOS.
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