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  1. Article: Chromothripsis under the microscope: a cytogenetic perspective of two cases of AML with catastrophic chromosome rearrangement.

    Mackinnon, Ruth N / Campbell, Lynda J

    Cancer genetics

    2013  Volume 206, Issue 6, Page(s) 238–251

    Abstract: Chromothripsis is a recently described phenomenon identified in cancer cells that produces catastrophic chromosome reorganization of one or a small number of chromosomes. It has been proposed that the multiple breakage events occur at a single point in ... ...

    Abstract Chromothripsis is a recently described phenomenon identified in cancer cells that produces catastrophic chromosome reorganization of one or a small number of chromosomes. It has been proposed that the multiple breakage events occur at a single point in time. Here we introduce the term anachromosome to describe an abnormal chromosome produced by chromothripsis. We report two cases of acute myeloid leukemia matching the description of chromothripsis that illustrate different aspects of this phenomenon from a cytogenetic perspective. Fluorescence in situ hybridization (FISH) analyses, including multicolor FISH and FISH for repeat elements that are not present on microarrays and that are resistant to sequencing, helped interpret the rearrangements but did not reveal their level of complexity. The anachromosomes conformed to the normal constraints of chromosome structure by including segments that provide two telomeres and a centromere. In patient samples, there are mixtures of cells with and without deletions. The deletion B allele frequencies for heterozygous loci in a mixture of cells with and without the deletions create a distinctive array pattern that is consistent with all the deletions in the anachromosomes having occurred concurrently. This evidence supporting the single-event hypothesis for chromothripsis has not previously been highlighted, to our knowledge. In the context of exploring mechanisms for chromosome shattering, we discuss a possible connection between chromosome pulverization and fragile sites. Understanding chromothripsis in the context of chromosome biology will help us identify its causes and consequences.
    MeSH term(s) Adult ; Aged, 80 and over ; Chromosome Aberrations ; Cytogenetic Analysis ; Female ; Gene Deletion ; Gene Rearrangement ; Humans ; Leukemia, Myeloid, Acute/genetics ; Male ; Polymorphism, Single Nucleotide
    Language English
    Publishing date 2013-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2599227-2
    ISSN 2210-7762
    ISSN 2210-7762
    DOI 10.1016/j.cancergen.2013.05.021
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1521: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
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  2. Article ; Online: The role of dicentric chromosome formation and secondary centromere deletion in the evolution of myeloid malignancy.

    Mackinnon, Ruth N / Campbell, Lynda J

    Genetics research international

    2011  Volume 2011, Page(s) 643628

    Abstract: Dicentric chromosomes have been identified as instigators of the genome instability associated with cancer, but this instability is often resolved by one of a number of different secondary events. These include centromere inactivation, inversion, and ... ...

    Abstract Dicentric chromosomes have been identified as instigators of the genome instability associated with cancer, but this instability is often resolved by one of a number of different secondary events. These include centromere inactivation, inversion, and intercentromeric deletion. Deletion or excision of one of the centromeres may be a significant occurrence in myeloid malignancy and other malignancies but has not previously been widely recognized, and our reports are the first describing centromere deletion in cancer cells. We review what is known about dicentric chromosomes and the mechanisms by which they can undergo stabilization in both constitutional and cancer genomes. The failure to identify centromere deletion in cancer cells until recently can be partly explained by the standard approaches to routine diagnostic cancer genome analysis, which do not identify centromeres in the context of chromosome organization. This hitherto hidden group of primary dicentric, secondary monocentric chromosomes, together with other unrecognized dicentric chromosomes, points to a greater role for dicentric chromosomes in cancer initiation and progression than is generally acknowledged. We present a model that predicts and explains a significant role for dicentric chromosomes in the formation of unbalanced translocations in malignancy.
    Language English
    Publishing date 2011-09-27
    Publishing country Egypt
    Document type Journal Article
    ZDB-ID 2662558-1
    ISSN 2090-3162 ; 2090-3162
    ISSN (online) 2090-3162
    ISSN 2090-3162
    DOI 10.4061/2011/643628
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The use of M-FISH and M-BAND to define chromosome abnormalities.

    Mackinnon, Ruth N / Chudoba, Ilse

    Methods in molecular biology (Clifton, N.J.)

    2011  Volume 730, Page(s) 203–218

    Abstract: Multicolour fluorescence in situ hybridisation (M-FISH) and multicolour banding (M-BAND) are advanced chromosome painting techniques combining multiple chromosome- or region-specific paints in one step. M-FISH identifies all chromosomes or chromosome ... ...

    Abstract Multicolour fluorescence in situ hybridisation (M-FISH) and multicolour banding (M-BAND) are advanced chromosome painting techniques combining multiple chromosome- or region-specific paints in one step. M-FISH identifies all chromosomes or chromosome arms at once, whereas M-BAND identifies the different regions of a single chromosome. The use of either or both can improve the accuracy of karyotyping and help identify cryptic chromosome rearrangements. These probes are prepared by pooling multiple chromosome- or chromosome region-specific DNA libraries, each labelled with a unique combination of fluorochromes. Commercial probes are available, avoiding the need for probe preparation. In the protocol described here, a commercial probe is used. Well-spread metaphases are prepared according to standard techniques, followed by alkaline denaturation and application of the denatured probe. After an incubation period, the slides are washed. A fluorescence microscope with filter sets specific to the fluorescent labels is used for analysis, together with specialised image analysis software. The software interprets the combination of fluorochromes to identify each chromosome and produce a false colour image specific for each chromosome or region. The single colour galleries - which show the hybridisation patterns of the individual fluorochromes - are useful to help interpret and confirm the false colour images produced by the software, including ambiguous signals.
    MeSH term(s) Chromosome Aberrations ; Chromosome Banding/methods ; Color ; DNA Probes/genetics ; Humans ; In Situ Hybridization, Fluorescence/methods ; Metaphase/genetics ; Nucleic Acid Denaturation
    Chemical Substances DNA Probes
    Language English
    Publishing date 2011
    Publishing country United States
    Document type Journal Article
    ISSN 1940-6029
    ISSN (online) 1940-6029
    DOI 10.1007/978-1-61779-074-4_15
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  4. Article ; Online: CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens.

    Mackinnon, Ruth N / Selan, Carly / Zordan, Adrian / Wall, Meaghan / Nandurkar, Harshal / Campbell, Lynda J

    Molecular cytogenetics

    2012  Volume 5, Page(s) 10

    Abstract: Background: The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and are a potential source of total ... ...

    Abstract Background: The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and are a potential source of total genomic DNA for array karyotyping and other applications. Array CGH using DNA from fixed cytogenetic preparations has been described, but it is not known whether it can be used for SNP arrays. Diagnostic bone marrow specimens taken during the assessment of hematological malignancies are also a potential source of DNA, but it is generally assumed that DNA must be extracted, or the specimen frozen, within a day or two of collection, to obtain DNA suitable for further analysis. We have assessed DNA extracted from these materials for both SNP array and array CGH.
    Results: We show that both SNP array and array CGH can be performed on genomic DNA extracted from cytogenetic specimens stored in Carnoy's fixative, and from bone marrow which has been stored unfrozen, at 4°C, for at least 36 days. We describe a procedure for extracting a usable concentration of total genomic DNA from cytogenetic suspensions of low cellularity.
    Conclusions: The ability to use these archival specimens for DNA-based analysis increases the potential for retrospective genetic analysis of clinical specimens. Fixed cytogenetic preparations and long-term refrigerated bone marrow both provide DNA suitable for array karyotyping, and may be suitable for a wider range of analytical procedures.
    Language English
    Publishing date 2012-02-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166 ; 1755-8166
    ISSN (online) 1755-8166
    ISSN 1755-8166
    DOI 10.1186/1755-8166-5-10
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  5. Article ; Online: The paradox of 20q11.21 amplification in a subset of cases of myeloid malignancy with chromosome 20 deletion.

    Mackinnon, Ruth N / Selan, Carly / Wall, Meaghan / Baker, Elizabeth / Nandurkar, Harshal / Campbell, Lynda J

    Genes, chromosomes & cancer

    2010  Volume 49, Issue 11, Page(s) 998–1013

    Abstract: Deletion of the long arm of one chromosome 20 (del(20q)) is a well-recognized abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) and is presumed to cause loss of a tumor suppressor gene at 20q12. In a previously published ... ...

    Abstract Deletion of the long arm of one chromosome 20 (del(20q)) is a well-recognized abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) and is presumed to cause loss of a tumor suppressor gene at 20q12. In a previously published series of MDS and AML cases, which had lost this region via unbalanced translocation, around 40% of cases were shown to have additional copies of the chromosome 20 abnormalities, with resulting gain or amplification of the retained parts of chromosome 20, most often 20q11.2. We have used FISH and array comparative genomic hybridization, to define further the retained and amplified regions. We now report targeted amplification of 20q11.21 in four of the 22 cases selected for further study and in one new case. The shortest amplified region of 250 kb in a series of five patients with three to ten copies of the 20q11.21 region contained the complete HCK, TM9SF4, PLAGL2, and POFUT1 genes. By RT-PCR we have shown that there is correlation between amplification and increased expression of these four genes in most cases. Localized and high level amplification of the common 250 kb region is evidence for activation of an oncogene in this region in these MDS and AML cases. Cases with 20q11.21 amplification tended to have a high proportion of erythroblasts in the marrow, with two cases diagnosed as erythroleukemia (AML-M6). Chromosome sub-band 20q11.21 amplification may therefore prove to be a marker of a specific subset of AML/MDS with a significant erythroid component.
    MeSH term(s) Aged ; Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Myelodysplastic Syndromes/genetics ; Nucleic Acid Hybridization ; Polymerase Chain Reaction
    Language English
    Publishing date 2010-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.20806
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2966: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article: Genome organization and the role of centromeres in evolution of the erythroleukaemia cell line HEL.

    Mackinnon, Ruth N / Wall, Meaghan / Zordan, Adrian / Nutalapati, Srilakshmi / Mercer, Bruce / Peverall, Joanne / Campbell, Lynda J

    Evolution, medicine, and public health

    2013  Volume 2013, Issue 1, Page(s) 225–240

    Abstract: Background and objectives: The human erythroleukaemia (HEL) cell line has a highly rearranged genome. We matched whole chromosome analysis with cytogenomic microarray data to build a detailed description of these rearrangements.: Methodology: We used ...

    Abstract Background and objectives: The human erythroleukaemia (HEL) cell line has a highly rearranged genome. We matched whole chromosome analysis with cytogenomic microarray data to build a detailed description of these rearrangements.
    Methodology: We used a combination of single nucleotide polymorphism array and multiple fluorescence in situ hybridization approaches, and compared our array data with publicly available data for different sublines of HEL. B allele frequencies revealed the fate of each homologue for most chromosomes.
    Results: At least two instances of the breakage-fusion-bridge cycle appear to have facilitated amplification of oncogenes and deletion of tumour suppressor genes. Because our study included centromere identification, we found that some abnormal chromosomes had centromeres that did not match the identity of the rest of the chromosome.
    Conclusions and implications: This study highlights the variety of complementary methods required to understand remodelling of the genome in cancer and uncover some of the mechanisms involved. We present evidence of centromere capture as a means of preserving broken chromosome segments. Testing for another highly repetitive DNA region, the nucleolus organizer region, helped identify the steps involved in chromosome 9 copy number aberrations. Increased use of techniques for identifying centromeres and other repetitive DNA regions will add to our understanding of genome remodelling and evolution. The pattern of chromosome 20 aberration in HEL supports an association of 20q11.21 amplification with erythroleukaemia (acute myeloid leukaemia subtype M6) in the context of 20q12 deletion. The differences between the karyotypes in different HEL sublines highlight the constantly evolving genomes of cultured cell lines.
    Language English
    Publishing date 2013-10-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2684837-5
    ISSN 2050-6201
    ISSN 2050-6201
    DOI 10.1093/emph/eot020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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