Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis

G. Lucchini, R. Marsh, K. Gilmour, A. Worth, Z. Nademi, A. Rao, C. Booth, P. Amrolia, J. Silva, R. Chiesa, R. Wynn, K. Lehmberg, I. Astigarraga, T. Güngör, J. Stary, D. Moshous, M. Ifversen, D. Zinn, M. Jordan, A. Kumar, T. Yasumi, P. Veys, K. Rao,

. 2018 ; 132 (19) : 2088-2096. [pub] 20180813

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc19035075

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc19035075
003      
CZ-PrNML
005      
20191008110733.0
007      
ta
008      
191007s2018 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1182/blood-2018-01-827485 $2 doi
035    __
$a (PubMed)30104219
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Lucchini, Giovanna $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
245    10
$a Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis / $c G. Lucchini, R. Marsh, K. Gilmour, A. Worth, Z. Nademi, A. Rao, C. Booth, P. Amrolia, J. Silva, R. Chiesa, R. Wynn, K. Lehmberg, I. Astigarraga, T. Güngör, J. Stary, D. Moshous, M. Ifversen, D. Zinn, M. Jordan, A. Kumar, T. Yasumi, P. Veys, K. Rao,
520    9_
$a 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.
650    _2
$a dítě $7 D002648
650    _2
$a předškolní dítě $7 D002675
650    _2
$a management nemoci $7 D019468
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a následné studie $7 D005500
650    12
$a transplantace hematopoetických kmenových buněk $7 D018380
650    _2
$a lidé $7 D006801
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a lymfohistiocytóza hemofagocytární $x genetika $x terapie $7 D051359
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a mutace $7 D009154
650    _2
$a analýza přežití $7 D016019
650    _2
$a výsledek terapie $7 D016896
655    _2
$a časopisecké články $7 D016428
700    1_
$a Marsh, Rebecca $u Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, OH.
700    1_
$a Gilmour, Kimberly $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Worth, Austen $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Nademi, Zohreh $u Division of Bone Marrow Transplant, Great North Children's Hospital, Newcastle, United Kingdom.
700    1_
$a Rao, Anupama $u Department of Haematology, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Booth, Claire $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Amrolia, Persis $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Silva, Juliana $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Chiesa, Robert $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Wynn, Robert $u Department of Stem Cell Transplant, Royal Manchester Children's Hospital, Manchester, United Kingdom.
700    1_
$a Lehmberg, Kai $u Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
700    1_
$a Astigarraga, Itziar $u Department of Pediatrics, Hospital Universitario Cruces, BioCruces, Health Research Institute, University of the Basque Country, Barakaldo, Bizkaia, Spain.
700    1_
$a Güngör, Tayfun $u Division of Stem Cell Transplantation, University Children's Hospital, Zurich, Switzerland.
700    1_
$a Stary, Jan $u Department of Pediatric Hematology and Oncology, Motol University Hospital, Prague, Czech Republic.
700    1_
$a Moshous, Despina $u Department of Pediatric Immunology and Hematology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris Descartes University, Paris, France.
700    1_
$a Ifversen, Marianne $u Department for Children and Adolescents, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
700    1_
$a Zinn, Daniel $u Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX; and.
700    1_
$a Jordan, Michael $u Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, OH.
700    1_
$a Kumar, Ashish $u Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, OH.
700    1_
$a Yasumi, Takahiro $u Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
700    1_
$a Veys, Paul $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
700    1_
$a Rao, Kanchan $u Department of Immunology/Stem Cell Transplant, Great Ormond Street Hospital, London, United Kingdom.
773    0_
$w MED00000807 $t Blood $x 1528-0020 $g Roč. 132, č. 19 (2018), s. 2088-2096
856    41
$u https://pubmed.ncbi.nlm.nih.gov/30104219 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20191007 $b ABA008
991    __
$a 20191008111149 $b ABA008
999    __
$a ok $b bmc $g 1451735 $s 1073625
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2018 $b 132 $c 19 $d 2088-2096 $e 20180813 $i 1528-0020 $m Blood $n Blood $x MED00000807
LZP    __
$a Pubmed-20191007
Zpět

Najít záznam

Citační ukazatele

Možnosti archivace