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
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DOI - Digital Object Identifier
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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
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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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
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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
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