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.

Bone Marrow Transplantation Department Great Ormond Street Hospital London United Kingdom

Bone Marrow Transplantation Department Russian Children's Hospital Moscow Russia

Bone Marrow Transplantation Unit Istituto Giannina Gaslini Genoa Italy

Department of Biochemistry and Medical Biotechnologies Federico 2 University Naples Italy

Department of Biology Università TorVergata Rome Italy

Department of Haematology Leiden University Hospital Leiden The Netherlands

Department of Haematology Oncology and Stem Cell Therapy King Faisal's Hospital Riyadh Saudi Arabia

Department of Haematology Oncology Hospital Infantil Universitario Nino Jesus Madrid Spain

Department of Haematology Ospedale San Martino Genoa Genova Italy

Department of Haematology St Louis Hospital Paris France

Department of Haematology St Mary's Hospital London United Kingdom

Department of Immunology Necker's Hospital Paris France

Department of Paediatric Haematology and Oncology Charles University Prague Czech Republic

Department of Paediatric Haematology Our Lady's Children's Hospital Dublin Ireland

Department of Paediatrics and Adolescent Medicine Division of Paediatric Haematology and Oncology Medical Centre Faculty of Medicine University of Freiburg Freiburg Germany

Director Department of Bone Marrow Transplantation and Cancer Immunotherapy Hadassah University Hospital Jerusalem Israel

EBMT Data Office Leiden Italy

Federal Research Centre of Paediatric Haematology Oncology and Immunology Moscow Russia

Haemato Immunology Department Robert Debre Hospital and Paris Diderot University Paris France

Haematology Oncology and Stem Cell Transplantation Research Centre Shariati Hospital Teheran Iran

Haematology Unit Istituto Giannina Gaslini Genoa Italy

Haematology Unit Sahlgrenska University Göteborg Sweden

Kids Cancer Centre Sydney Children's Hospital Sydney Australia

Paediatric Haematology and Oncology Hospital Vall d'Hebron Barcelona Spain

Paediatric Haematology Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy

Paediatric Onco Haematology Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital Torino Italy

Paediatric Stem Cell Transplantation Leiden University Medical Centre Leiden The Netherlands

Pediatrics Department Hematology and Bone Marrow Transplantation University of Minnesota Minneapolis MN USA

Stem Cell Transplant Unit Hospital Niño Jesús Madrid Spain

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