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@article{1349609,
author = {Smetana, Jan and Kuglík, Petr and Grešliková, Henrieta and Kupská, Renata and Němec, Pavel and Mikulášová, Aneta and Valášková, Iveta and Oppelt, Jan and Almáši, Martina and Krejčí, Marta and Adam, Zdeněk and Pour, Luděk and Hájek, Roman},
article_location = {USA},
article_number = {1},
keywords = {Multiple myeloma; extramedullary relapse; clonal evolution; genetic changes; ploidy switch; TP53 mutations},
language = {eng},
issn = {1936-2625},
journal = {International Journal of Clinical and Experimental Pathology},
title = {Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report},
url = {http://www.ijcep.com/V9_No1.html},
volume = {9},
year = {2016}
}
TY - JOUR
ID - 1349609
AU - Smetana, Jan - Kuglík, Petr - Grešliková, Henrieta - Kupská, Renata - Němec, Pavel - Mikulášová, Aneta - Valášková, Iveta - Oppelt, Jan - Almáši, Martina - Krejčí, Marta - Adam, Zdeněk - Pour, Luděk - Hájek, Roman
PY - 2016
TI - Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report
JF - International Journal of Clinical and Experimental Pathology
VL - 9
IS - 1
SP - 49
EP - 49
PB - e-Century Publishing Corporation, Madiso
SN - 19362625
KW - Multiple myeloma
KW - extramedullary relapse
KW - clonal evolution
KW - genetic changes
KW - ploidy switch
KW - TP53 mutations
UR - http://www.ijcep.com/V9_No1.html
N2 - 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 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.
ER -
SMETANA, Jan, Petr KUGLÍK, Henrieta GREŠLIKOVÁ, Renata KUPSKÁ, Pavel NĚMEC, Aneta MIKULÁŠOVÁ, Iveta VALÁŠKOVÁ, Jan OPPELT, Martina ALMÁŠI, Marta KREJČÍ, Zdeněk ADAM, Luděk POUR and Roman HÁJEK. Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report. \textit{International Journal of Clinical and Experimental Pathology}. USA: e-Century Publishing Corporation, Madiso, 2016, vol.~9, No~1, p.~49-62. ISSN~1936-2625.
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