| 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. |
- Bullerdiek, Jörn, et al.
(författare)
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Tumors of endocrine glands
- 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. 497-514
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Bokkapitel (refereegranskat)abstract
- Cytogenetic information is available on roughly 600 neoplasms originating from the thyroid, parathyroid, pituitary, and adrenal glands; from the thymus; and from the endocrine pancreas. Trisomy 7 is found in 30% of adenomas with clonal cytogenetic aberrations. In both the benign and malignant tumors, a combination of gains of or from chromosomes 5, 7, 12, 17, 19, and 20 was observed. Almost all pituitary tumors arise from the adenohypophysis and are benign adenomas; carcinomas are very rare. The clinical heterogeneity of Neuroblastoma (NB) is well reflected by its cytogenetic and genomic features. Clonal chromosome abnormalities were reported in adrenocortical adenomas. Chromosome banding studies have detected cytogenetic aberrations in adrenocortical carcinomas. Clonal chromosome abnormalities have been reported in several thymomas, usually as part of near-diploid karyotypes as well as in a few thymic carcinomas. The use of comparative genomic hybridization (CGH)-based techniques may improve thymoma subtyping.
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| 7. |
- Fioretos, Thoas, et al.
(författare)
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Chronic myeloid leukemia
- 2015. - 4
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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. 153-174
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Bokkapitel (refereegranskat)abstract
- Chronic myeloid leukemia (CML) is a clonal bone marrow (BM) disease characterized by neoplastic overproduction of, mainly, granulocytes. The treatment of CML has changed dramatically with the introduction of tyrosine kinase inhibitors (TKIs) targeting the product of the underlying cytogenetic and molecular lesion in CML. The Philadelphia chromosome was the first consistent neoplasia-associated chromosomal abnormality reported; its discovery was a milestone in cancer cytogenetics. Treatment of CML has changed dramatically over the last decades. The chfromosome t(9;22) (q34;q11) or its variant translocations (seen in 5-10%) are detected in the great majority of BM cells from patients with CML.The introduction of imatinib and other TKIs has dramatically improved the clinical outcome for CML patients, and today, the vast majority of patients receiving TKI treatment in chronic phase (CP) remain in complete hematologic and cytogenetic remission with low to undetectable BCR-ABL1 fusion transcripts.
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| 8. |
- Gisselsson, David, et al.
(författare)
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Cytogenetic methods
- 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. 11-18
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Bokkapitel (refereegranskat)abstract
- This chapter outlines the methods currently employed in cancer cytogenetics, spanning from chromosome banding to array- and sequencing-based techniques. A correct sampling procedure is the basis for correct scientific and diagnostic conclusions. Chromosome preparation requires live cells, whereas in situ hybridization at least requires intact nuclei, and genome arrays as well as sequencing rely on DNA that has not been extensively degraded. Direct preparations or short-term cultures are therefore usually preferred for chromosome banding analysis. In situ hybridization techniques are based on the inherent organization of DNA into two antiparallel complementary strands. Genomic arrays are highly efficient tools for obtaining data on genomic imbalances present in a tumor sample. The advent of massive parallel/second-generation/ next-generation sequencing (NGS technology has radically transformed the field of cancer cytogenetics. More than 800 genomes of more than 25 cancer types have now been sequenced.
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| 9. |
- Harrison, Christine J., et al.
(författare)
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Acute lymphoblastic leukemia
- 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. 198-251
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Bokkapitel (refereegranskat)abstract
- Acute lymphoblastic leukemia (ALL) is classified as B-lineage ALL (B-ALL) and T-lineage ALL (T-ALL). The incidence of ALL is almost three times higher in white than black children. Among adults, ALL is more frequent in younger patients, with a median age of less than 30 years. The morphology-immunology-cytogenetics (MIC) subgroups are associated with nonrandom karyotypic abnormalities in a manner comparable to the specificity seen between chromosomal rearrangements and morphologic subgroups in acute myeloid leukemia. Low hyperdiploidy or hypodiploidy with 45 chromosomes and single numerical aberrations are increasingly being found as secondary changes associated with specific structural abnormalities. Cytogenetic analysis plays an integral part in the diagnosis of ALL. The abnormalities differ between B-ALL and T-ALL with different distributions between age groups. In association with these aspects, the diagnostic karyotype is an important prognostic variable. Children with Down syndrome (DS) have a greatly increased risk of developing acute leukemia, including ALL.
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| 10. |
- Johansson, Bertil, et al.
(författare)
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Acute myeloid leukemia
- 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. 62-125
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Bokkapitel (refereegranskat)abstract
- Acute leukemia is a worldwide disease with an incidence of approximately 4/100 000 per year; 70% of the cases are acute myeloid leukemia (AML). The salient pathologic feature of AML is the excessive accumulation of immature myeloid blasts in the bone marrow (BM). This maturation arrest, a characteristic of acute leukemias, prevents normal hematopoiesis and leads, directly or indirectly, to a lack of differentiated granulocytes, monocytes, thrombocytes, and erythrocytes. Chromosome banding analyses reveal acquired, clonal chromosomal abnormalities in the majority of AML cases, with the frequencies and types of aberrations to some extent being influenced by factors such as age, previous treatment/genotoxic exposure, gender, geographic/ethnic origin, and constitutional genetics. This chapter summarizes the cytogenetic, molecular genetic and clinical features of AML-associated numerical and structural abnormalities. It explains the characteristic karyotypic patterns in AML. Complex Karyotypic (CK), monosomal Karyotype (MK), normal Karyotype (NK) are the chromosomal abnormalities reported in AML.
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