Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14310/18:00102223

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

Popis výsledku v původním jazyce

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 &gt; 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.

Název v anglickém jazyce

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse

Popis výsledku anglicky

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 &gt; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Cytogenetics

ISSN

1755-8166

e-ISSN

—

Svazek periodika

11

Číslo periodika v rámci svazku

JAN 18

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

7

Kód UT WoS článku

000422755300001

EID výsledku v databázi Scopus

2-s2.0-85040818518