Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

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Publikace nespadá pod Filozofickou fakultu, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.
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SMETANA Jan OPPELT Jan ŠTORK Martin POUR Luděk KUGLÍK Petr

Rok publikování 2018
Druh Článek v odborném periodiku
Časopis / Zdroj MOLECULAR CYTOGENETICS
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
www https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-018-0357-5
Doi http://dx.doi.org/10.1186/s13039-018-0357-5
Klíčová slova Multiple myeloma; Chromothripsis; Array-CGH; NGS; Mutation screening
Popis 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.
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