Myelodysplastic syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F24%3A00013753" target="_blank" >RIV/00023736:_____/24:00013753 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1016/B978-0-443-15717-2.00046-9" target="_blank" >https://doi.org/10.1016/B978-0-443-15717-2.00046-9</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/B978-0-443-15717-2.00046-9" target="_blank" >10.1016/B978-0-443-15717-2.00046-9</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Myelodysplastic syndrome

Popis výsledku v původním jazyce

Myelodysplastic neoplasm (MDS) constitute a group of age-associated heterogeneous clonal hematopoietic disorders characterized by the combination of persistent unexplained cytopenias and morphologic dysplasia in one or more of the major hematopoietic cell lines, ineffective hematopoiesis, and an increased risk of progression to acute myeloid leukemia (AML). A conventional karyotype is present in about 50% of cases. Cytogenetic abnormalities based on losses of chromosomal material are most frequent than gains such as trisomy 8 or trisomy 21. Next-generation sequencing found somatic mutations in approximately 90% of patients with MDS. One or more driver mutations are associated with the pathogenesis of MDS in most patients with MDS. The detection of a driver mutation helps in cases when morphology is not diagnostic. Genomics has impact on the classification of MDS. The recently developed fifth edition of the WHO classification of diseases (WHO, 2022) and International Consensus (IC) classification of hematologic neoplasms included MDS with mutated SF3B1 and MDS with mutated TP53 (multi-hit TP53 mutation or TP53 mutation and complex karyotype) entities important for risk stratification. Epigenetic mechanisms, immune dysregulation, and proinflammatory signaling play essential roles in the pathogenesis of MDS. The development of targeted and immune therapies is based on molecular and genetic characterization of MDS, and understanding the pathogenic mechanisms of MDS.

Název v anglickém jazyce

Myelodysplastic syndrome

Popis výsledku anglicky

Myelodysplastic neoplasm (MDS) constitute a group of age-associated heterogeneous clonal hematopoietic disorders characterized by the combination of persistent unexplained cytopenias and morphologic dysplasia in one or more of the major hematopoietic cell lines, ineffective hematopoiesis, and an increased risk of progression to acute myeloid leukemia (AML). A conventional karyotype is present in about 50% of cases. Cytogenetic abnormalities based on losses of chromosomal material are most frequent than gains such as trisomy 8 or trisomy 21. Next-generation sequencing found somatic mutations in approximately 90% of patients with MDS. One or more driver mutations are associated with the pathogenesis of MDS in most patients with MDS. The detection of a driver mutation helps in cases when morphology is not diagnostic. Genomics has impact on the classification of MDS. The recently developed fifth edition of the WHO classification of diseases (WHO, 2022) and International Consensus (IC) classification of hematologic neoplasms included MDS with mutated SF3B1 and MDS with mutated TP53 (multi-hit TP53 mutation or TP53 mutation and complex karyotype) entities important for risk stratification. Epigenetic mechanisms, immune dysregulation, and proinflammatory signaling play essential roles in the pathogenesis of MDS. The development of targeted and immune therapies is based on molecular and genetic characterization of MDS, and understanding the pathogenic mechanisms of MDS.

Druh

C - Kapitola v odborné knize

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název knihy nebo sborníku

Comprehensive hematology and stem cell research: volume 1-5

ISBN

978-044315718-9

Počet stran výsledku

26

Strana od-do

"V2:144"-"V2:169"

Počet stran knihy

2572

Název nakladatele

Elsevier

Místo vydání

Amsterdam

Kód UT WoS kapitoly

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