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Br J Haematol. 2018 Oct;183(1):110-118. doi: 10.1111/bjh.15495. Epub 2018 Jul 9.

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.

Author information

1
Haematology Unit, Istituto Giannina Gaslini, Genoa, Italy.
2
Department of Biology, Università TorVergata, Rome, Italy.
3
Paediatric Stem Cell Transplantation, Leiden University Medical Centre, Leiden, The Netherlands.
4
EBMT Data Office, Leiden, Italy.
5
Department of Haematology, Leiden University Hospital, Leiden, The Netherlands.
6
Bone Marrow Transplantation Department, Great Ormond Street Hospital, London, United Kingdom.
7
Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
8
Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Torino, Italy.
9
Haematology Unit, Sahlgrenska University, Göteborg, Sweden.
10
Paediatric Haematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
11
Bone Marrow Transplantation Unit, Istituto Giannina Gaslini, Genoa, Italy.
12
Federal Research Centre of Paediatric Haematology, Oncology and Immunology, Moscow, Russia.
13
Kids Cancer Centre, Sydney Children's Hospital, Sydney, Australia.
14
Department of Haematology/Oncology, Hospital Infantil Universitario Nino Jesus, Madrid, Spain.
15
Stem Cell Transplant Unit, Hospital Niño Jesús, Madrid, Spain.
16
Department of Paediatric Haematology, Our Lady's Children's Hospital, Dublin, Ireland.
17
Department of Haematology, St. Louis Hospital, Paris, France.
18
Department of Haematology, St. Mary's Hospital, London, United Kingdom.
19
Director Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah University Hospital, Jerusalem, Israel.
20
Department of Haematology, Ospedale San Martino Genoa, Genova, Italy.
21
Pediatrics Department, Hematology and Bone Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
22
Department of Haematology, Oncology and Stem Cell Therapy, King Faisal's Hospital, Riyadh, Saudi Arabia.
23
Department of Immunology, Necker's Hospital, Paris, France.
24
Bone Marrow Transplantation Department, Russian Children's Hospital, Moscow, Russia.
25
Paediatric Haematology and Oncology, Hospital Vall d'Hebron, Barcelona, Spain.
26
Department of Biochemistry and Medical Biotechnologies, Federico II University, Naples, Italy.
27
Haemato-Immunology Department, Robert Debre Hospital, and Paris-Diderot University, Paris, France.
28
Department of Paediatric Haematology and Oncology, Charles University, Prague, Czech Republic.
29
Haematology-Oncology and Stem Cell Transplantation Research Centre, Shariati Hospital, Teheran, Iran.

Abstract

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 3 years after HSCT were 66% and 62%, respectively. Multivariate analysis showed better outcomes in patients aged less than 20 years 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.

KEYWORDS:

bone marrow failure; dyskeratosis congenita; haematopoietic stem cell transplantation

PMID:
29984823
DOI:
10.1111/bjh.15495

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