Analysis of myeloid neoplasms with isolated trisomy 19 reveals a novel MDS subgroup characterized by the presence of ring sideroblasts, fibrosis and SRSF2 and/or ASXL1 mutations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F25%3A00013829" target="_blank" >RIV/00023736:_____/25:00013829 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1007/s12308-025-00659-1" target="_blank" >https://doi.org/10.1007/s12308-025-00659-1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12308-025-00659-1" target="_blank" >10.1007/s12308-025-00659-1</a>

Result language

angličtina

Original language name

Analysis of myeloid neoplasms with isolated trisomy 19 reveals a novel MDS subgroup characterized by the presence of ring sideroblasts, fibrosis and SRSF2 and/or ASXL1 mutations

Original language description

We collected 97 cases of myeloid neoplasia with the rare cytogenetic event of isolated trisomy 19 (+19), with the aim to characterize this group clinically and pathologically. 51 patients with myelodysplastic syndrome (MDS +19) and 11 patients with myelodysplastic/myeloproliferative neoplasms (MDS/MPN +19) presented with +19 at disease onset and were further analyzed. Patients with insufficient data were excluded. We collected additional clinical and laboratory data and performed mutation analysis on available bone marrow biopsies. Although all individual features observed in the MDS +19 and MDS/MPN +19 cohorts are seen in MDS and MDS/MPN in general, their combination is rather unique and provides clues regarding disease evolution in this rare, cytogenetically defined group of myeloid neoplasia.

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

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OECD FORD branch

30205 - Hematology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

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

Name of the periodical

Journal of hematopathology

ISSN

1868-9256

e-ISSN

—

Volume of the periodical

18

Issue of the periodical within the volume

1

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

9

Pages from-to

"art. no. 45"

UT code for WoS article

001590056300001

EID of the result in the Scopus database

2-s2.0-105018608389