Detailed Information on Publication Record
2018
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
SMETANA, Jan, Jan OPPELT, Martin ŠTORK, Luděk POUR, Petr KUGLÍK et. al.Basic information
Original name
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
Authors
SMETANA, Jan (203 Czech Republic, belonging to the institution), Jan OPPELT (203 Czech Republic, belonging to the institution), Martin ŠTORK (203 Czech Republic), Luděk POUR (203 Czech Republic) and Petr KUGLÍK (203 Czech Republic, guarantor, belonging to the institution)
Edition
MOLECULAR CYTOGENETICS, BioMed Central, 2018, 1755-8166
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
10603 Genetics and heredity
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
Impact factor
Impact factor: 1.331
RIV identification code
RIV/00216224:14310/18:00102223
Organization unit
Faculty of Science
UT WoS
000422755300001
Keywords in English
Multiple myeloma; Chromothripsis; Array-CGH; NGS; Mutation screening
Tags
Tags
International impact, Reviewed
Změněno: 19/3/2019 13:50, Mgr. Pavla Foltynová, Ph.D.
Abstract
V originále
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.
Links
| MUNI/A/0824/2017, interní kód MU |
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