Giant cell tumor of bone (GCTB) is a benign but locally aggressive tumor with metastatic potential. We performed cytogenetic analysis on 101 GCTB from 92 patients. Karyotypes were obtained from 95 tumors, 47 of which had clonal aberrations. The majority of the cytogenetically abnormal GCTB had multiple, up to 28 per tumor, clones. Clonal telomeric associations (tas) and other structural and numerical changes were found in about 70, 60, and 30%, respectively, of clonally abnormal tumors. Forty-seven aberrations were recurrent, of which 35 are novel. The vast majority of the recurrent aberrations were tas, confirming the important role of telomeric fusions in the development of GCTB. The frequency of tas in GCTB cultures increased with passaging, suggesting a selective advantage of tas-positive cells in vitro. The termini most frequently involved in tas were 22p, 13p, 15p, 21p, 14p, 19q, 1q, 12p, 11p, and 20q. The frequency of tas (irrespective of their clonality) was significantly higher in tumors carrying clonal changes, indicating that tas are precursors of other types of aberrations. In line with this assumption, the chromosomes preferentially involved in tas in a given tumor were also the ones most often affected by other rearrangements. We did not find the previously reported amplicon in 20q11.1, assessed by fluorescence in situ hybridization in 10 tumors. Nor did we find any association between cytogenetic features and adverse clinical outcome. Thus, local recurrences probably depend more on the adequacy of surgical treatment than on the intrinsic biology of the tumors.
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PLoS One
December 2024
National Institute for Public Health and the Environment (RIVM), Centre for Infectious Diseases Research, Diagnostics and Laboratory Surveillance, Bilthoven, NLD.
At the beginning of the COVID-19 pandemic, diagnostic testing was not accessible for mildly ill or asymptomatic individuals. Military operational circumstances exclude the usage of reference laboratory tests. For that reason, at the beginning of the pandemic alternative test methods were needed in order to gain insight into the SARS-CoV-2 status of military personnel.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Ann Hematol
December 2024
Department of Medicine, Division of Hematology/Oncology, University of Florida College of Medicine, Gainesville, FL, USA.
This case is a rare presentation of severe aplastic anemia in a 31-year-old male with acquired clonality of the X chromosome as the sole cytogenetic abnormality. This abnormality has not been reported to our knowledge, and the significance of this finding remains unclear. Comprehensive diagnostic workup included bone marrow biopsy, cytogenetic analysis, and Next-Generation sequencing, which revealed no tier I/II variants typically associated with clonal hematopoietic disorders.
View Article and Find Full Text PDFGenet Sel Evol
December 2024
Natural Resources Institute Finland, 31600, Jokioinen, Finland.
Sex identification in farmed fish is important for the management of fish stocks and breeding programs, but identification based on visual characteristics is typically difficult or impossible in juvenile or premature fish. The amount of genomic data obtained from farmed fish is rapidly growing with the implementation of genomic selection in aquaculture. In comparison to mammals and birds, ray-finned fishes exhibit a greater diversity of sex determination systems, with an absence of conserved genomic regions.
View Article and Find Full Text PDFFront Public Health
December 2024
School of Preventive Medicine, Shandong First Medical University (Institute of Radiation Medicine, Shandong Academy of Medical Sciences), Jinan, Shandong, China.
Background: Radon, a colorless and odorless radioactive gas, poses serious health risks. It is the second leading cause of lung cancer and notably increases lung cancer risk in smokers. Although previous epidemiological studies have mainly examined lung cancer rates in miners, the effects of radon on genomic stability and its molecular mechanisms are not well understood.
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