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@article{1405096,
author = {Smetana, Jan and Oppelt, Jan and Štork, Martin and Pour, Luděk and Kuglík, Petr},
article_number = {JAN},
doi = {http://dx.doi.org/10.1186/s13039-018-0357-5},
keywords = {Multiple myeloma; Chromothripsis; Array-CGH; NGS; Mutation screening},
language = {eng},
issn = {1755-8166},
journal = {MOLECULAR CYTOGENETICS},
title = {Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse},
url = {https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5},
volume = {11},
year = {2018}
}
TY - JOUR
ID - 1405096
AU - Smetana, Jan - Oppelt, Jan - Štork, Martin - Pour, Luděk - Kuglík, Petr
PY - 2018
TI - Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
JF - MOLECULAR CYTOGENETICS
VL - 11
IS - JAN
SP - nestrankovano
EP - nestrankovano
PB - BioMed Central
SN - 17558166
KW - Multiple myeloma
KW - Chromothripsis
KW - Array-CGH
KW - NGS
KW - Mutation screening
UR - https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5
L2 - https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5
N2 - Background Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS=23 months). I-FISH investigation revealed presence of gain 1q21 and hyperdiploidy (chromosomes 5,9,15) in 82% and 86%, respectively, while IgH rearrangements, del(17)(p13) and del(13)(q14) were evaluated as negative. Whole-genome profiling using array-CGH showed complex genomic changes including hyperdiploidy (trisomy of chromosomes 3, 5, 9, 11, 15 and 19), monosomy X, structural gains (1q21-1q23.1, 1q32-1q44, 16p13.13-16p11.2) and losses (1q23.1-1q32.1, 8p23.3-8p11.21) of genetic material and chromothripsis in chromosome 18 with 6 breakpoint areas. Next-generation sequencing showed a total of 338 variants with 1.8% (6/338) of pathological mutations in NRAS (c.181C>A, p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1. Conclusions Our findings suggest that presence of chromothripsis should be considered as another important genetic hallmark of poor prognosis in MM patients and utilization of genome-wide screening techniques such as array-CGH and NGS improves the clinical diagnostics of the disease.
ER -
SMETANA, Jan, Jan OPPELT, Martin ŠTORK, Luděk POUR and Petr KUGLÍK. Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse. \textit{MOLECULAR CYTOGENETICS}. BioMed Central, 2018, vol.~11, JAN, p.~nestrankovano, 6 pp. ISSN~1755-8166. Available from: https://dx.doi.org/10.1186/s13039-018-0357-5.
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