Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10382688" target="_blank" >RIV/00216208:11130/18:10382688 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10382688
Result on the web
<a href="https://doi.org/10.1182/blood-2018-01-827485" target="_blank" >https://doi.org/10.1182/blood-2018-01-827485</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood-2018-01-827485" target="_blank" >10.1182/blood-2018-01-827485</a>
Alternative languages
Result language
angličtina
Original language name
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis
Original language description
Asymptomatic carriers (ACs) of pathogenic biallelic mutations in causative genes for primary hemophagocytic lymphohistiocytosis (HLH) are at high risk of developing life-threatening HLH, which requires allogeneic hematopoietic stem cell transplantation (HSCT) to be cured. There are no guidelines on the management of these asymptomatic patients. We analyzed the outcomes of pairs of index cases (ICs) and subsequently diagnosed asymptomatic family members carrying the same genetic defect. We collected data from 22 HSCT centers worldwide. Sixty-four children were evaluable. ICs presented with HLH at a median age of 16 months. Seven of 32 ICs died during first-line therapy, and 2 are alive after chemotherapy only. In all, 23/32 underwent HSCT, and 16 of them are alive. At a median follow-up of 36 months from diagnosis, 18/32 ICs are alive. Median age of ACs at diagnosis was 5 months. Ten of 32 ACs activated HLH while being observed, and all underwent HSCT: 6/10 are alive and in complete remission (CR). 22/32 ACs remained asymptomatic, and 6/22 have received no treatment and are in CR at a median follow-up of 39 months. Sixteen of 22 underwent preemptive HSCT: 15/16 are alive and in CR. Eight-year probability of overall survival (pOS) in ACs who did not have activated HLH was significantly higher than that in ICs (95% vs 45%; P = .02), and pOS in ACs receiving HSCT before disease activation was significantly higher than in ACs receiving HSCT after HLH activation (93% vs 64%; P = .03). Preemptive HSCT in ACs proved to be safe and should be considered. (C) 2018 by The American Society of Hematology.
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
—
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
Blood
ISSN
0006-4971
e-ISSN
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Volume of the periodical
132
Issue of the periodical within the volume
19
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
2088-2096
UT code for WoS article
000449624600013
EID of the result in the Scopus database
2-s2.0-85056272286