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  • 1
    Language: English
    In: Oncology Reports, January 2004, Vol.11(1), pp.89-92
    Description: We report on a 72-year-old patient with a clinically diagnosed plasmocytoma which developed to a plasma cell leukemia (PCL) with so far unrecorded complex translocations. As GTG-banding was not able to resolve all karyotypic changes, multiplex-fluorescence in situ hybridization (M-FISH) in combination with microdissection based comparative genomic hybridization (micro-CGH) and multicolor banding (MCB) have been done. Using these molecular cytogenetic approaches the karyotype of the PCL case can be described as: 51,XY,-1,-1,+3,+der(5)t(5;11;1)(5pter↷5q13-q14::11q24↷11q25::1q12↷1qter),+7 or +der(7)t(7;1)(7qter↷7p15::1p31.1↷1pter),+8,+der(9)t(1;9)(1qter↷1q12::9q12↷9pter),der(11)t(1;11;1)(1pter↷1p31.1::11p15.5↷11q25::1q12↷1qter),-13,der(14)t(X;14)(Xqter↷Xq21.3::14pter↷14qter),+15,+18,der(19)t(9;19)(9qter↷9q12::19q11↷19pter),+i(19)(q10). The case shows one of the most complex karyotypic rearrangements ever described in PCL and indicates two additional chromosomal regions which may contain genes of interest for the development of this hematological disorder: loss of 1p10-p31.1 material and gain of Xq21.3-qter.
    Keywords: Translocation, Genetic ; Leukemia, Plasma Cell -- Genetics;
    ISSN: 1021-335X
    E-ISSN: 17912431
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  • 2
    In: Oncology Reports, 01/01/2004
    ISSN: 1021-335X
    E-ISSN: 1791-2431
    Source: CrossRef
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  • 3
    Language: English
    In: International journal of oncology, February 2009, Vol.34(2), pp.417-23
    Description: Acute myeloid leukemia (AML) is a heterogeneous disease with respect to clinical prognosis and acquired chromosomal aberrations. After routine banding cytogenetic analysis 45% of AML patients show a normal karyotype (NK-AML). For a better understanding of development and progression in AML, it is important to find markers which could be primary genetic aberrations. Therefore, in this study 31 patients with NK-AML were analyzed by new high resolution molecular cytogenetic approaches. A combination of multitude multicolor banding and metaphase microdissection-based comparative genomic hybridization revealed deletions of the subtelomeric regions in 6% of the studied cases. According to these results, locus-specific probes for the subtelomeric regions of chromosomes 5, 9, 11, 12 and 13 were applied on 22 of the studied 31 NK-AML cases. Surprisingly, 50% of them showed deletions or duplications. These aberrations occurred in the in vitro proliferating as well as in the non-proliferating cells. Meta-analysis of the aberrant regions revealed that they often include genes known to be associated with tumors, e.g. RASA3 on chromosome 13. These results implicate that aberrations in the subtelomeric regions of NK-AML occur quite often and may be considered as primary genetic changes, and should not be neglected in future diagnostic approaches.
    Keywords: Chromosome Aberrations ; Leukemia, Myeloid, Acute -- Genetics ; Telomere -- Genetics
    ISSN: 1019-6439
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  • 4
    Language: English
    In: International Journal of Molecular Medicine, September 2009, Vol.24(3), pp.335-341
    Description: The impact of chromosome architecture in the formation of chromosome aberrations is a recent finding of interphase directed molecular cytogenetic studies. Also positive correlation of translocation frequencies and spatial proximity of chromosomes was described. Thus, disease specific chromosomal translocations could be due to tissue specific genomic organization. However, no three-dimensional interphase fluorescence in situ hybridization (FISH) studies for the nuclear architecture of bone marrow (BM) cells have previously been done. In this study, BM of three secondary acute myelogenous leukemia (AML) cases with trisomy 8 and otherwise normal karyotype were evaluated. Bone marrow cells of one AML and one ALL (acute lymphoblastic leukemia) case, peripheral blood lymphocytes and human sperm, all of them with normal karyotype, served as controls. Multicolor banding (MCB) probes for chromosomes 8 and 21 were applied in suspension-FISH (S-FISH). Interestingly, in myeloid bone marrow cells chromosomes 8 (di- and trisomic) and 21 tended to co-localize with their homologue chromosome(s), rather than to be separated. Thus, the co-localization of chromosomes 8 and 21 might promote a translocation providing a selective advantage of t(8;21) cells in AML-M2. In summary, the concept that tissue specific spatial proximity of chromosomes leads to enhanced translocation frequencies was further supported.
    Keywords: Medicine;
    ISSN: 1107-3756
    E-ISSN: 1791244X
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