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Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F16%3AA1701LEC" target="_blank" >RIV/61988987:17110/16:A1701LEC - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14310/16:00088866 RIV/00843989:_____/16:E0105496

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report

  • Original language description

    Extramedullary relapse (EM) is an aggressive form of the disease with a dismal outcome. We present cytogenetic findings of a 52-year-old female with MM, which progressed rapidly into plasmocellular leukemia and extramedullary subcutaneous tumor in the head. At the time of diagnosis, G-banding showed hypotriploid karyotype (63-64 chromosomes) and using cIg-FISH we found translocation t(4; 14)(p16; q32) and gain(1)(q21). At the time of disease progression, the same chromosomal abnormalities were present in the bone marrow, peripheral blood and the EM lesion: del(13)(q14), del(17)(p13), t(4; 14)(p16; q32) and gain(1)(q21). Before progression, array-CGH showed, hyperdiploid karyotype with trisomies of chromosomes 2, 3, 7, 8, 9, 11, 17, 18, 19 and 20, while after progression non-hyperdiploid karyotype was detected with additional structural deletions in 1p, 2p, 4q, 11p, 12p, 13, 14q, 17p, 22q and homozygous deletion in 1p32.3. In addition, deep resequencing of TP53 gene showed presence of 2 known mutations in exon 6(c.632C>T) and exon 7(c.700T>C). In summary, EM relapse of this patient was connected to a change of the entire genome profile. Extramedullary lesion most probably originated by an expansion of one clone of tumor plasma cells from the bone marrow, which was confirmed by identical genomic profile of both tested samples. Thus, change of ploidy status should be considered as potential hallmark of adverse course of the disease.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FD - Oncology and haematology

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2016

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY

  • ISSN

    1936-2625

  • e-ISSN

  • Volume of the periodical

    9

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    12

  • Pages from-to

    49-60

  • UT code for WoS article

    000371354200006

  • EID of the result in the Scopus database