All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F17%3AA1801RS4" target="_blank" >RIV/61988987:17110/17:A1801RS4 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14310/17:00095684 RIV/00064173:_____/17:N0000031 RIV/00843989:_____/17:E0106498 RIV/65269705:_____/17:00074567

  • Result on the web

    <a href="http://dx.doi.org/10.3324/haematol.2017.163766" target="_blank" >http://dx.doi.org/10.3324/haematol.2017.163766</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3324/haematol.2017.163766" target="_blank" >10.3324/haematol.2017.163766</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma

  • Original language description

    Monoclonal gammopathy of undetermined significance is a premalignant precursor of multiple myeloma with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS gene mutations, little is known about the molecular mechanism of malignant transformation. We performed whole exome sequencing together with comparative genomic hybridization plus single nucleotide polymorphism array analysis in 33 flow-cytometry-separated abnormal plasma cell samples from patients with monoclonal gammopathy of undetermined significance to describe somatic gene mutations and chromosome changes at the genome-wide level. Non-synonymous mutations and copy-number alterations were present in 97.0% and in 60.6% of cases, respectively. Importantly, the number of somatic mutations was significantly lower in monoclonal gammopathy of undetermined significance than in myeloma (P&lt; 10-4) and we identified six genes that were significantly mutated in myeloma (KRAS, NRAS, DIS3, HIST1H1E, EGR1 and LTB) within the monoclonal gammopathy of undetermined significance dataset. We also found a positive correlation with increasing chromosome changes and somatic gene mutations. IGH translocations, comprising t(4; 14), t(11; 14), t(14; 16) and t(14; 20), were present in 27.3% of cases and in a similar frequency to myeloma, consistent with the primary lesion hypothesis. MYC translocations and TP53 deletions or mutations were not detected in samples from patients with monoclonal gammopathy of undetermined significance, indicating that they may be drivers of progression to myeloma. Data from this study show that monoclonal gammopathy of undetermined significance is genetically similar to myeloma, however overall genetic abnormalities are present at significantly lower levels in monoclonal gammopathy of undetermined significant than in myeloma.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30205 - Hematology

Result continuities

  • Project

    <a href="/en/project/NT13492" target="_blank" >NT13492: Role of genetic abnormalities in development and progression of precancerosis monoclonal gammopathy of undetermined significance</a><br>

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2017

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    HAEMATOLOGICA

  • ISSN

    0390-6078

  • e-ISSN

  • Volume of the periodical

    102

  • Issue of the periodical within the volume

    9

  • Country of publishing house

    IT - ITALY

  • Number of pages

    9

  • Pages from-to

    1617-1625

  • UT code for WoS article

    000408743300030

  • EID of the result in the Scopus database

    2-s2.0-85029602067