| 1. |
- Mertens, Fredrik, et al.
(författare)
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Tumors of the skin
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 555-565
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Bokkapitel (refereegranskat)abstract
- Skin cancer is the most common malignancy in humans. Clonal chromosome abnormalities have been reported in approximately 100 basal cell epitheliomas (BCC). In contrast to BCC, which has no recognized precursor lesion, squamous cell carcinoma (SCC) of the skin is known to develop through histologic stages, the most important of which are actinic keratosis (squamous cell dysplasia) and carcinoma in situ (severe dysplasia). A wide range of clinically and pathologically different benign and malignant melanocytic tumors are recognized. Appendageal tumors are subdivided into more than 30 benign and malignant subtypes showing apocrine and eccrine differentiation or follicular and sebaceous differentiation. Merkel cell carcinomas have near-diploid karyotypes, often showing rearrangements of chromosome 1. Dermal cylindromas may show similar genetic features to adenoid cystic carcinomas with the occurrence of a t (6; 9) (q22-23; p23-24) leading to a MYB-NFIB fusion gene.
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| 2. |
- Gorunova, Ludmila, et al.
(författare)
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Cytogenetic Analysis of 101 Giant Cell Tumors of Bone: Nonrandom Patterns of Telomeric Associations and Other Structural Aberrations
- 2009
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 48:7, s. 583-602
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Tidskriftsartikel (refereegranskat)abstract
- Giant cell tumor of bone (GCTB) is a benign but locally aggressive tumor with metastatic potential. We performed cytogenetic analysis on 10 1 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. (C) 2009 Wiley-Liss, Inc.
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| 3. |
- Adeyinka, Adewale, et al.
(författare)
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Comparative cytogenetic and DNA flow cytometric analysis of 242 primary breast carcinomas
- 2003
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Ingår i: Cancer Genetics and Cytogenetics. - 0165-4608. ; 147:1, s. 62-67
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Tidskriftsartikel (refereegranskat)abstract
- The cytogenetic and DNA flow cytometric findings in 242 breast carcinomas were compared. The combined use of both techniques improved the detection of abnormal cell populations from 65% by cytogenetic analysis alone and 59% by DNA flow cytometric analysis alone to 84%. Informative and comparable cytogenetic and flow cytometric data were obtained for 155 tumors. Among these 155 tumors, there was good concordance (64%) between the estimates of genomic changes by the two methods. Most discrepancies were among the DNA-diploid cases, where cytogenetic analysis detected small genomic changes. There were, however, also some exceptions in which large genomic changes detected by one method were missed by the other. Of the specific breast cancer-associated cytogenetic aberrations subjected to separate correlation analysis, polysomy for chromosome 20 was significantly associated with a high S-phase fraction, whereas loss of the long arm of chromosome 16 and/or the presence of a der(1;16) were significantly associated with a low S-phase fraction. Our data show that cytogenetic and DNA flow cytometric analyses of breast carcinomas give largely comparable results, and that combining data from both methods significantly improves the information obtained by either technique used alone on the genetic abnormalities in these tumors.
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| 4. |
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| 5. |
- JOHANSSON, BERTIL, et al.
(författare)
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Breakprone chromosome bands in fibroblasts from patients with non‐Hodgkin's lymphoma do not coincide with bands involved in primary rearrangements in non‐Hodgkin's lymphomas
- 1988
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661. ; 109:1, s. 131-137
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Tidskriftsartikel (refereegranskat)abstract
- The distribution of breakpoints in structural chromosome aberrations (chromatid and chromosome gaps, breaks, and exchanges) was studied in skin fibroblasts from 35 untreated patients with non‐Hodgkin's lymphoma (NHL) and 39 controls. A total of 227 aberrations in the NHL group and 260 in the control group could be assigned to specific chromosome bands. The distribution of breakpoints was nonrandom in both groups (p<0.001), with excessive breakage in 17 bands among the NHL patients and in 21 among the controls. Two of the hot spots in the NHL group (6q21,14q24) and three in the control group (2q33,6q21, 6q25) coincided with the 60 chromosome bands that are targets for primary chromosome abnormalities in NHL. We conclude that the chromosome bands involved in primary structural abnormalities in lymphoma cells are not constitutionally breakprone in NHL patients.
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| 6. |
- JOHANSSON, BERTIL, et al.
(författare)
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Normal frequency of structural chromosome aberrations in fibroblasts from patients with non‐Hodgkin's lymphoma
- 1988
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661. ; 109:2, s. 277-280
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Tidskriftsartikel (refereegranskat)abstract
- The incidence of chromosome aberrations, i.e., chromatid and chromosome gaps, breaks, and exchanges, was studied in cultured skin fibroblasts from 25 untreated patients with non‐Hodgkin's lymphoma (NHL) and 26 controls. The mean frequencies of aberrant cells, and gap, break, and gap+break events per 100 metaphases were 4.2, 1.9, 2.8, and 4.7 in the NHL group, and 5.1, 2.6, 3.2, and 5.8 in the control group. None of these parameters differed significantly between the groups, indicating that constitutional chromosomal instability is not related to the development of NHL. In the total material there was a significant (P<0.05) increase with age in the number of aberrant cells.
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| 7. |
- Johansson, Bertil, et al.
(författare)
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Remarkably long survival of a patient with Ph1-positive chronic myeloid leukemia and 5' bcr rearrangement
- 1990
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Ingår i: Leukemia. - 1476-5551. ; 4:6, s. 448-449
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Tidskriftsartikel (refereegranskat)abstract
- Chronic myeloid leukemia (CML) was diagnosed in a 19-year-old man in 1961, and the disease remained in chronic phase, with occasional exacerbations, for 27 years. In 1976, when the first cytogenetic analysis was performed, t(9;22)(q34;q11) was found as the sole abnormality in all mitoses. During accelerated phase in 1988, a second cytogenetic investigation showed the karyotype 45,XY,t(9;22)(q34;q11),-15,-17,+der(15) t(15;17)(p13;q11). Molecular analysis revealed a rearrangement in the 5' end of the major breakpoint cluster region (M-bcr). With the case presented here, sublocalization of the bcr breakpoint has now been undertaken in altogether five CML patients with extremely long survival. It is noteworthy that in all these cases the chromosome 22 breakpoint was located in the 5' region of the M-bcr.
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| 8. |
- Mandahl, Nils, et al.
(författare)
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Soft tissue tumors
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 583-614
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Bokkapitel (refereegranskat)abstract
- Soft tissue tumors are highly heterogeneous with more than 100 subtypes. The chapter describes a large number of fibroblastic/myofibroblastic tumor entities. Alveolar rhabdomyosarcomas (ARMS) and embryonal rhabdomyosarcomas (ERMS) show largely similar patterns of genomic imbalances, although most of them occur at higher frequencies among the latter. The chromosome numbers of 70 undifferentiated pleomorphic sarcomas varied from near haploidy to hyperoctaploidy. Cytogenetic analyses have revealed that practically all soft tissue tumor types harbor acquired chromosome aberrations. The type of aberrations and the level of karyotypic complexity vary considerably from one tumor entity to another. At one end are the pathognomonic translocations that by themselves are extremely useful diagnostic signatures. Detection of such aberrations, by cytogenetic or molecular genetic means, is useful in the diagnostic setting when combined with clinicopathologic data. The prognostic impact of the genetic aberrations identified in soft tissue tumors is largely unknown.
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| 9. |
- Mertens, Fredrik, et al.
(författare)
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Tumors of bone
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 566-582
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Bokkapitel (refereegranskat)abstract
- Bone tumors constitute a heterogeneous group of neoplasms of skeletal origin. Benign cartilage tumors include osteochondroma, subungual exostosis, bizarre parosteal osteochondromatous proliferation (BPOP), chondromas, synovial chondromatosis, chondroblastoma, and chondromyxoid fibroma. Ewing sarcomas, also known as primitive neuroectodermal tumors (PNET), are highly aggressive small cell round cell sarcomas showing varying degrees of neuroectodermal differentiation. Giant cell tumor of bone is a benign but locally aggressive tumor accounting for approximately 5% of all bone tumors. Cytogenetic analyses of bone tumors have demonstrated that most subtypes carry characteristic, sometimes tumor-specific, chromosomal aberrations that are useful for differential diagnostic purposes. Many of the tumor-specific chromosomal rearrangements are balanced translocations, and for the majority of them, the molecular consequences have been clarified, allowing the use of fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR) to verify or exclude their presence preoperatively or before initiating chemotherapy.
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| 10. |
- Panagopoulos, Ioannis, et al.
(författare)
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Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.
- 2002
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257. ; 35:4, s. 340-352
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Tidskriftsartikel (refereegranskat)abstract
- Extraskeletal myxoid chondrosarcoma (EMC) is a soft-tissue neoplasm cytogenetically characterized by the translocations t(9;22)(q22;q11-12) or t(9;17)(q22;q11), generating EWS/CHN or RBP56/CHN fusion genes, respectively. In the present study, 18 EMCs were studied both cytogenetically and at the molecular level. Chromosomal aberrations were detected in 16 samples: 13 with involvement of 9q22 and 22q11-12, and three with rearrangements of 9q22 and 17q11. Fifteen cases had an EWS/CHN fusion transcript and three had an RBP56/CHN transcript. The most frequent EWS/CHN transcript (type 1; 10 tumors), involved fusion of EWS exon 12 with CHN exon 3, and the second most common (type 5; two cases) was fusion of EWS exon 13 with CHN exon 3. In all tumors with RBP56/CHN fusion, exon 6 of RBP56 was fused to exon 3 of CHN. By genomic XL PCR and sequence analyses, the breakpoints from 14 cases were mapped in the EWS, RBP56, and CHN genes. In CHN, 12 breakpoints were found in intron 2 and only two in intron 1. In EWS, the breaks occurred in introns 7 (one break), 12 (eight breaks), and 13 (one break), and in RBP56 in intron 6. Repetitive elements such as Alu and LINE sequences seem to have limited, if any, importance in the genesis of EWS/CHN and RBP56/CHN chimeras. Furthermore, there were no chi, chi-like, topoisomerase II, or translin consensus sequences in the introns harboring the translocation breakpoints, nor could the number of topo I sites in EWS, RBP56, and CHN introns explain the uneven distribution of the breakpoints among EWS or CHN introns. Additional genetic events, such as nucleotide insertions, homologies at the junction, deletions, duplications, and inversions, were found to accompany the translocations, indicating that the chromosomal translocations do not require sequence-specific recombinases or extensive homology between the recombined sequences. Copyright 2002 Wiley-Liss, Inc.
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