| 1. |
- Mertens, F, et al.
(författare)
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Cytogenetic findings in 33 osteosarcomas
- 1993
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 55:1, s. 44-50
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Tidskriftsartikel (refereegranskat)abstract
- Thirty-three osteosarcomas (OS) were analyzed cytogenetically. Clonal chromosome changes were detected in 17 cases. Six tumors had chromosome numbers in the diploid range, 6 in the triploid range, 1 in the tetraploid range and 1 in the pentaploid range, while 3 tumors had multiple clones with different ploidy levels. Including the present 17 tumors, a total of 27 OS with clonal aberrations have been reported. The recognizable structural rearrangements in these 27 tumors clustered to chromosome arms 1p, 1q, 3p, 3q, 7q, 11p, 17p and 22q. Chromosome bands 1q11, 1q21, 1q42 and 7q11 were the most frequently rearranged, and the most common numerical rearrangements were -3, -10, -13 and -15. Supernumerary ring chromosomes, in 2 tumors as the sole change, were found in all 3 parosteal OS, which is in agreement with the findings in 1 previously reported parosteal OS. The association between ring formation and parosteal morphology represents the first cytogenetic-morphologic entity among OS.
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| 2. |
- Hallen, Thomas, et al.
(författare)
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Genome-Wide DNA Methylation Differences in Nonfunctioning Pituitary Adenomas With and Without Postsurgical Progression
- 2022
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 107:8, s. 2318-2328
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Tidskriftsartikel (refereegranskat)abstract
- Context Tumor progression in surgically treated patients with nonfunctioning pituitary adenomas (NFPAs) is associated with excess mortality. Reliable biomarkers allowing early identification of tumor progression are missing. Objective To explore DNA methylation patterns associated with tumor progression in NFPA patients. Methods This case-controlled exploratory trial at a university hospital studied patients who underwent surgery for NFPA that had immunohistochemical characteristics of a gonadotropinoma. Cases included patients requiring reintervention due to tumor progression (reintervention group, n = 26) and controls who had a postoperative residual tumor without tumor progression for at least 5 years (radiologically stable group, n = 17). Genome-wide methylation data from each tumor sample were analyzed using the Infinium MethylationEPIC BeadChip platform. Results The analysis showed that 605 CpG positions were significantly differently methylated (differently methylated positions, DMPs) between the patient groups (false discovery rate adjusted P value < 0.05, beta value > 0.2), mapping to 389 genes. The largest number of DMPs were detected in the genes NUP93 and LGALS1. The 3 hypomethylated DMPs and the 3 hypermethylated DMPs with the lowest P values were all significantly (P < 0.05) and individually associated with reintervention-free survival. One of the hypermethylated DMPs with the lowest P value was located in the gene GABRA1. Conclusion In this exploratory study, DNA methylation patterns in NFPA patients were associated with postoperative tumor progression requiring reintervention. The DMPs included genes that have been previously associated with tumor development. Our study is a step toward finding epigenetic signatures to predict tumor progression in patients with NFPA.
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| 3. |
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| 4. |
- Sjogren, H., et al.
(författare)
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Cytogenetic and spectral karyotype analyses of benign and malignant cartilage tumours
- 2004
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Ingår i: International Journal of Oncology. - 1019-6439. ; 24:6, s. 1385-91
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Tidskriftsartikel (refereegranskat)abstract
- To date, there have been few studies published on benign and malignant cartilage tumours using high resolution molecular cytogenetic techniques such as spectral karyotyping (SKY). In this study we have used a combination of chromosome banding, SKY and FISH to characterize the chromosomal pattern in 18 benign and malignant cartilage tumours and one small cell osteosarcoma with mesenchymal chondrosarcoma-like features. Clonal structural and/or numerical aberrations were detected in 14 of these tumours. All chondroblastomas and the chondromyxoid fibroma had diploid or near-diploid karyotypes with often relatively simple karyotypes. Although no consistent abnormalities were detected in the chondroblastomas, recurrent breakpoints were found at 2q35, 3q21-23, and 18q21. The chondromyxoid fibroma had an inv(6)(p25q13) as the sole anomaly, suggesting that this is a primary abnormality characteristic of this entity. The karyotypic findings in the chondrosarcomas were, as a rule, more complex than those in the benign tumours. A typical feature was the frequent occurrence of unbalanced rearrangements leading to genomic imbalances with losses and gains of certain chromosomes or chromosome regions. The following breakpoints were recurrent: Xq21, 6p10, 9p13, 20p11 and 22q11-12. Despite the use of high-resolution molecular cytogenetic techniques, we were not able to identify any consistent abnormalities in chondrosarcomas, suggesting that tumour-specific chromosome changes are not likely to be found in this group of tumours.
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