Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10388889" target="_blank" >RIV/00216208:11130/18:10388889 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10388889
Result on the web
<a href="https://doi.org/10.1111/bjh.15495" target="_blank" >https://doi.org/10.1111/bjh.15495</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjh.15495" target="_blank" >10.1111/bjh.15495</a>
Alternative languages
Result language
angličtina
Original language name
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita
Original language description
Dyskeratosis congenita (DC) is a genetic multisystem disorder with frequent involvement of the bone marrow. Haematopoietic stem cell transplantation (HSCT) is the only definitive cure to restore haematopoiesis, even though it cannot correct other organ dysfunctions. We collected data on the outcome of HSCT in the largest cohort of DC (n=94) patients ever studied. Overall survival (OS) and event-free survival (EFS) at 3years after HSCT were 66% and 62%, respectively. Multivariate analysis showed better outcomes in patients aged less than 20years and in patients transplanted from a matched, rather than a mismatched, donor. OS and EFS curves tended to decline over time. Early lethal events were infections, whereas organ damage and secondary malignancies appeared afterwards, even a decade after HSCT. A non-myeloablative conditioning regimen appeared to be most advisable. Organ impairment present before HSCT seemed to favour the development of chronic graft-versus-host disease and T-B immune deficiency appeared to enhance pulmonary fibrosis. According to the present data, HSCT in DC is indicated in cases of progressive marrow failure, whereas in patients with pre-existing organ damage, this should be carefully evaluated. Further efforts to investigate treatment alternatives to HSCT should be encouraged.
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
30204 - Oncology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
British Journal of Haematology
ISSN
0007-1048
e-ISSN
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Volume of the periodical
183
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
110-118
UT code for WoS article
000447750900014
EID of the result in the Scopus database
2-s2.0-85050608456