The role of new technologies in myeloproliferative neoplasms: Application of next-generation sequencing in myelofibrosis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F21%3AN0000222" target="_blank" >RIV/00098892:_____/21:N0000222 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/21:73608216
Result on the web
<a href="http://onlinelibrary.wiley.com/doi/epdf/10.1111/ijlh.13504" target="_blank" >http://onlinelibrary.wiley.com/doi/epdf/10.1111/ijlh.13504</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/ijlh.13504" target="_blank" >10.1111/ijlh.13504</a>
Alternative languages
Result language
angličtina
Original language name
The role of new technologies in myeloproliferative neoplasms: Application of next-generation sequencing in myelofibrosis
Original language description
Introduction: Driver mutations in Philadelphia chromosome-negative myeloproliferative neoplasms are well known. In the past, whole-genome sequencing identified nondriver mutations in other genes, potentially contributing to evolution of malignant clones. Methods: Next-generation sequencing was used to assess the presence of any mutations in 14 candidate genes at the point of diagnosis and the resultant impact on the clinical course of the disease. Results: The study analysed 63 patients with myelofibrosis (MF). Nondriver mutations were detected in 44% of them. The most frequently affected genes were ASXL1 (27%), TET2 (11%) and SF3B1 (6%). The frequency of such mutations was highest in primary MF (59%) and lowest in the prefibrotic phase of primary MF (21%). Patients with prognostically unfavourable sequence variants in genes had significantly worse overall survival (53 vs 71 months; HR = 2.77; 95% CI 1.17-6.56; P =.017). Conclusion: In our study, multivariate analysis proved DIPSS to be the only significant factor to predict patient survival. DIPSS contains all of the important clinical and laboratory factors except genetic changes. Stratification of patients according to DIPSS is still beneficial although there are newer and improved scoring systems like GIPSS or MIPSS70. Assessing subclonal mutations in candidate genes during diagnosis may aid in the identification of high-risk MF patients and is therefore relevant for making a prediction for overall survival more accurate.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Laboratory Hematology
ISSN
1751-5521
e-ISSN
1751-553X
Volume of the periodical
43
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
1070-1077
UT code for WoS article
000630033100001
EID of the result in the Scopus database
2-s2.0-85102616772