Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F18%3A00070329" target="_blank" >RIV/65269705:_____/18:00070329 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/18:00102223
Result on the web
<a href="https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5" target="_blank" >https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13039-018-0357-5" target="_blank" >10.1186/s13039-018-0357-5</a>
Alternative languages
Result language
angličtina
Original language name
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
Original language description
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 (+ 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 (+ 3,+ 5,+ 9,+ 11, + 15,+ 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 arrayCGH and NGS improves the clinical diagnostics of the disease.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Cytogenetics
ISSN
1755-8166
e-ISSN
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Volume of the periodical
11
Issue of the periodical within the volume
JAN 18
Country of publishing house
GB - UNITED KINGDOM
Number of pages
6
Pages from-to
7
UT code for WoS article
000422755300001
EID of the result in the Scopus database
2-s2.0-85040818518