| 1. |
- Heim, Sverre, et al.
(författare)
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Cytogenetic nomenclature
- 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. 19-25
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Bokkapitel (refereegranskat)abstract
- This chapter elaborates on human chromosome nomenclature. It provides a brief summary of the most essential cytogenetic terminology related to the description of chromosome aberrations in neoplastic cells. The chapter outlines criteria for designation of regions and bands for chromosome nomenclature. Regions and bands are numbered consecutively from the centromere outward along each chromosome arm. This chapter outlines guidelines and conventions foy karyotypic nomenclature. It provides a detailed account on nomenclature of tumor cell populations. The introduction of various in situ hybridization technologies into the cytogenetic analysis of interphase and metaphase cells has led the International Standing Committee on Human Cytogenetic Nomenclature to propose an in situ hybridization (ish) nomenclature system that may be used to describe abnormalities at the molecular level by indicating, for example, the presence, absence, amplification, or separation of specific probe signals.
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| 2. |
- Heim, Sverre, et al.
(författare)
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Nonrandom chromosome abnormalities in cancer : An overview
- 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. 26-41
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Bokkapitel (refereegranskat)abstract
- This chapter discusses neoplastic karyotypes. It emphasizes the difference between primary and secondary changes and address the questions of why, how, when, and where chromosome abnormalities arise; compare numerical and structural aberrations in terms of how they contribute to tumor development; and also touch upon the issues of what causes cancer-associated chromosome abnormalities and whether they are necessary and/or sufficient to transform a normal cell into a cancer cell. It discusses some of the more principal differences between the cytogenetic and molecular genetic approaches to the study of acquired somatic cell mutations. Numerous specific chromosomal abnormalities have been detected in almost all tumor types that have been examined. This chapter explores when do chromosome aberrations arise and in which cells do chromosome aberrations arise. It also discusses whether acquired chromosome aberrations are sufficient for neoplastic proliferation. The chapter discusses the general effects of structural and numerical chromosome abnormalities.
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| 3. |
- Heim, Sverre, et al.
(författare)
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Preface to the Fourth Edition
- 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
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- 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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| 5. |
- Mitelman, Felix, et al.
(författare)
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How it all began : Cancer cytogenetics before sequencing
- 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. 1-10
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Bokkapitel (refereegranskat)abstract
- According to Boveri's hypothesis, chromosome abnormalities were the cellular changes causing the transition from normal to malignant proliferation. Technical difficulties prevented reliable visualization of mammalian chromosomes, in both normal and neoplastic cells, throughout the entire first half of the 20th century. Nowell and Hungerford's discovery greatly stimulated interest in cancer cytogenetics in the early 1960s, but for several reasons, the Ph chromosome long remained an exceptional finding. The advent of molecular genetics in the 1980s and the development of a range of powerful molecular cytogenetic technologies, such as fluorescence in situ hybridization (FISH), multicolor FISH, comparative genomic hybridization (CGH), various array-based genotyping technologies, and DNA and RNA sequencing, have widened one's knowledge and understanding of the molecular mechanisms that are operative in neoplastic initiation and progression. In the 100 years since Boveri first postulated that chromosome change may initiate the carcinogenic process, cancer cytogenetics has come of age.
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| 6. |
- 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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| 7. |
- Andersen, Mette K., et al.
(författare)
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Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13) : clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols
- 2011
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Ingår i: British Journal of Haematology. - Oxford : Wiley. - 0007-1048 .- 1365-2141. ; 155:2, s. 235-243
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Tidskriftsartikel (refereegranskat)abstract
- The translocation t(1;19)(q23;p13)/der(19) t(1;19) is a risk stratifying aberration in childhood B-cell precursor acute lymphoblastic leukaemia (BCP ALL) in the Nordic countries. We have identified 47 children/adolescents with t(1;19)/der(19) t(1;19)-positive BCP ALL treated on two successive Nordic Society of Paediatric Haematology and Oncology (NOPHO) protocols between 1992 and 2007 and have reviewed the clinical and cytogenetic characteristics of these cases, comprising 1.8% of all cases. The translocation was balanced in 15 cases (32%) and unbalanced in 29 cases (62%). The most common additional chromosome abnormalities were del(9p), i(9q), del(6q), and del(13q). The median age was 7 years, the median white blood cell (WBC) count was 16 x 10(9)/l, and the female/male ratio was 1.2. The predicted event-free survival (EFS) at 5 and 10 years was 0.79, whereas the predicted overall survival (OS) at 5 and 10 years was 0.85 and 0.82, respectively. Nine patients had a bone marrow relapse after a median of 23 months; no patient had a central nervous system relapse. Additional cytogenetic abnormalities, age, gender, WBC count or whether the t(1;19) was balanced or unbalanced did not influence EFS or OS. Compared to cases with t(12,21) and high hyperdiploidy, EFS was similar, but overall survival was worse in patients with t(1;19)/der(19) t(1;19) (P = 0.004).
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| 8. |
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| 9. |
- Bardi, G, et al.
(författare)
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Tumor karyotype predicts clinical outcome in colorectal cancer patients
- 2004
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Ingår i: Journal of Clinical Oncology. - 1527-7755. ; 22:13, s. 2623-2634
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To investigate the prognostic value of the overall karyotypic features and specific chromosome aberrations in colorectal cancer (CRC). Patients and Methods Cytogenetic features of 150 primary CRCs investigated at the time of surgery were correlated with patient survival by univariate and multivariate analyses, using classical clinicopathologic parameters as covariates. Results In univariate analysis, in addition to tumor grade and clinical stage, structural aberrations as well as rearrangements of chromosomes 8 and 16 were significantly correlated with shorter overall survival. Karyotypic complexity, rearrangements of chromosomes 8 and 16, and loss of chromosome 4 were significantly correlated with shorter disease-free survival. In multivariate analysis, in addition to tumor grade, the type of chromosome aberrations (structural or numerical), ploidy, and loss of chromosome 18 came across as independent prognostic factors in the group of all patients. In the subset of patients with stage I and II carcinomas, none of the clinicopathologic variables could independently predict patient survival, whereas the presence of structural chromosomal aberrations was the only independent predictor of poor prognosis. In the subset of patients with stage III carcinomas, the presence of structural changes of chromosome 8 was a stronger independent predictor of prognosis than was tumor grade. Conclusion Cytogenetic tumor features are valuable predictors of prognosis in CRC patients. The tumor karyotype should therefore be taken into account in the clinical management of patients with this disease, especially for patients having cancers of the early or intermediate stages I, II, and III.
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| 10. |
- Brandal, Petter, et al.
(författare)
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Detection of a t(1;22)(q23;q 12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
- 2008
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 47:7, s. 558-564
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Tidskriftsartikel (refereegranskat)abstract
- Chromosome banding as well as molecular cytogenetic methods are of great help in the diagnosis of mesenchymal tumors. Myoepithelial neoplasms of soft tissue including myoepitheliomas, mixed tumors, and parachordomas are diagnoses that have been increasingly recognized the last few years. It is still debated which neoplasms should be included in these morphologically heterogeneous entities, and the boundaries between them are not clear-cut. The pathogenetic mechanisms behind myoepithelial tumors are unknown. Only five parachordomas and one mixed tumor have previously been karyotyped, and nothing is known about their molecular genetic characteristics. We present a mesenchymal tumor classified as a myoepithelioma that had a balanced translocation t(1;22)(q23;q12) as the sole karyotypic change. A novel EWSR1-PBX1 fusion gene consisting of exons 1-8 of the 5'-end of EWSR1 and exons 5-9 of the 3-end of PBX1 was shown to result from the translocation. Both genes are known to be targeted also by other neoplasia-specific translocations, PBX1 in acute lymphoblastic leukemia and EWSR1 in several solid tumors, most of which are malignant. Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1.
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