Whole‑genome optical mapping of bone‑marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F21%3A73607269" target="_blank" >RIV/61989592:15110/21:73607269 - isvavai.cz</a>

Alternative codes found

RIV/61989100:27240/21:10248153 RIV/00098892:_____/21:N0000192

Result on the web

<a href="https://www.nature.com/articles/s41598-021-93835-z.pdf" target="_blank" >https://www.nature.com/articles/s41598-021-93835-z.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41598-021-93835-z" target="_blank" >10.1038/s41598-021-93835-z</a>

Result language

angličtina

Original language name

Whole‑genome optical mapping of bone‑marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities

Original language description

Extramedullary disease (EMM) represents a rare, aggressive and mostly resistant phenotype of multiple myeloma (MM). EMM is frequently associated with high-risk cytogenetics, but their complex genomic architecture is largely unexplored. We used whole-genome optical mapping (Saphyr, Bionano Genomics) to analyse the genomic architecture of CD138+ cells isolated from bone-marrow aspirates from an unselected cohort of newly diagnosed patients with EMM (n = 4) and intramedullary MM (n = 7). Large intrachromosomal rearrangements (&gt; 5 Mbp) within chromosome 1 were detected in all EMM samples. These rearrangements, predominantly deletions with/without inversions, encompassed hundreds of genes and led to changes in the gene copy number on large regions of chromosome 1. Compared with intramedullary MM, EMM was characterised by more deletions (size range of 500 bp–50 kbp) and fewer interchromosomal translocations, and two EMM samples had copy number loss in the 17p13 region. Widespread genomic heterogeneity and novel aberrations in the high-risk IGH/IGK/IGL, 8q24 and 13q14 regions were detected in individual patients but were not specific to EMM/MM. Our pilot study revealed an association of chromosome 1 abnormalities in bone marrow myeloma cells with extramedullary progression. Optical mapping showed the potential for refining the complex genomic architecture in MM and its phenotypes.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

<a href="/en/project/NV18-03-00500" target="_blank" >NV18-03-00500: Impact of methylation pattern on multiple myeloma progression</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2021

Confidentiality

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

Name of the periodical

Scientific Reports

ISSN

2045-2322

e-ISSN

—

Volume of the periodical

11

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

14

Pages from-to

"nestránkováno"

UT code for WoS article

000675839600001

EID of the result in the Scopus database

2-s2.0-85110853985