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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 a Petr KUGLÍK. Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse. \textit{MOLECULAR CYTOGENETICS}. BioMed Central, roč.~11, JAN, s.~nestrankovano, 6 s. ISSN~1755-8166. doi:10.1186/s13039-018-0357-5. 2018.
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