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Chromosome Segregation Errors as a Cause of DNA Damage and Structural Chromosome Aberrations
TLDR
The data show that segregation errors can cause translocations and provide insights into the role of whole-chromosome instability in tumorigenesis and show that chromosomes that missegregate can lead to unbalanced translocations in the daughter cells.
Sarcoma Derived from Cultured Mesenchymal Stem Cells
TLDR
This new sarcoma cell line, S1, is unique in having a cytogenetic profile similar to human Sarcoma and contains bioluminescent and fluorescent genes, making it useful for investigations of cellular biodistribution and tumor response to therapy in vivo.
Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
TLDR
Somatic heterozygous mutations in IDH1 or IDH2 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes and suggested intraneoplastic and somatic mosaicism.
Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation
TLDR
Array comparative genomic hybridisation identified copy number alterations in all samples and imbalances affecting 5 or more out of the 21 investigated tumours were seen on all chromosomes, supporting previous findings of primarily losses of large chromosomal regions as an important mechanism in chordoma development.
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
TLDR
It is identified biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showing that Peters Plus is a monogenic, primarily single-mutation syndrome.
Novel and highly recurrent chromosomal alterations in Sézary syndrome.
TLDR
The Sz genome is characterized by gross chromosomal instability with highly recurrent gains and losses, Prominent among deregulated genes are those encoding cMYC, cMYCs-regulating proteins, mediators of MYC-induced apoptosis, and IL-2 signaling pathway components.
Osteosarcoma originates from mesenchymal stem cells in consequence of aneuploidization and genomic loss of Cdkn2
TLDR
The findings suggest a possible hazard for the clinical use of MSCs; however, they also offer new opportunities to study early genetic events in osteosarcoma genesis and, more importantly, to modulate these events and record the effect on tumour progression.
Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma
TLDR
Although H3K36 trimethylation and ATRX immunohistochemistry cannot be used as surrogate markers for H3F3A mutation status, mutations in H3f3A are associated with increased H3k36 trim methylation, suggesting that methylation at this residue may play a role in the etiology of the disease.
Genomic imbalances associated with müllerian aplasia
TLDR
The imbalances on 22q11.21 support recent findings by us and others that alterations in this chromosome region may result in impairment of müllerian duct development and point specifically to LHX1 and KLHL4 as candidate genes.
Chemotherapy-resistant osteosarcoma is highly susceptible to IL-15-activated allogeneic and autologous NK cells
TLDR
The data support the exploitation of NK cells or NK cell–activating agents in patients with high-grade osteosarcoma, which are highly susceptible to lysis by IL-15-induced NK cells from both allogeneic and autologous origin.
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