Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita

Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita Publisher Pubmed

Fioredda F¹ ; Iacobelli S² ; Korthof ET³ ; Knol C⁴ ; Van Biezen A⁴ ; Bresters D⁵ ; Veys P⁶ ; Yoshimi A⁷ ; Fagioli F⁸ ; Mats B⁹ ; Zecca M¹⁰ ; Faraci M¹¹ ; Miano M¹ ; Arcuri L¹ Show All Authors

Fioredda F¹
Iacobelli S²
Korthof ET³
Knol C⁴
Van Biezen A⁴
Bresters D⁵
Veys P⁶
Yoshimi A⁷
Fagioli F⁸
Mats B⁹
Zecca M¹⁰
Faraci M¹¹
Miano M¹
Arcuri L¹
Maschan M¹²
Obrien T¹³
Diaz MA¹⁴
Sevilla J¹⁵
Smith O¹⁶
Peffault De Latour R¹⁷
De La Fuente J¹⁸
Or R¹⁹
Van Lint MT²⁰
Tolar J²¹
Aljurf M²²
Fisher A²³
Skorobogatova EV²⁴
Diaz De Heredia C²⁵
Risitano A²⁶
Dalle JH²⁷
Sedlacek P²⁸
Ghavamzadeh A²⁹
Dufour C¹

Show Affiliations

1. Haematology Unit, Istituto Giannina Gaslini, Genoa, Italy
2. Department of Biology, Universita TorVergata, Rome, Italy
3. Paediatric Stem Cell Transplantation, Leiden University Medical Centre, Leiden, Netherlands
4. EBMT Data Office, Leiden, Italy
5. Department of Haematology, Leiden University Hospital, Leiden, 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, Goteborg, 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, Russian Federation
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 Nino Jesus, 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, United States
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, Russian Federation
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

Source: British Journal of Haematology Published:2018

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. © 2018 British Society for Haematology and John Wiley & Sons Ltd

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Style	Citing Format
MLA	Fioredda F, et al.. "Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita." British Journal of Haematology, vol. 183, no. 1, 2018, pp. 110-118.
APA	Fioredda F, Iacobelli S, Korthof ET, Knol C, Van Biezen A, Bresters D, Veys P, Yoshimi A, Fagioli F, Mats B, Zecca M, Faraci M, Miano M, Arcuri L, Maschan M, Obrien T, Diaz MA, Sevilla J, Smith O, ... Dufour C (2018). Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita. British Journal of Haematology, 183(1), 110-118.
Chicago	Fioredda F, Iacobelli S, Korthof ET, Knol C, Van Biezen A, Bresters D, Veys P, et al.. "Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita." British Journal of Haematology 183, no. 1 (2018): 110-118.
Harvard	Fioredda F et al. (2018) 'Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita', British Journal of Haematology, 183(1), pp. 110-118.
Vancouver	Fioredda F, Iacobelli S, Korthof ET, Knol C, Van Biezen A, Bresters D, et al.. Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita. British Journal of Haematology. 2018;183(1):110-118.
BibTex	@article{ author = {Fioredda F and Iacobelli S and Korthof ET and Knol C and Van Biezen A and Bresters D and Veys P and Yoshimi A and Fagioli F and Mats B and Zecca M and Faraci M and Miano M and Arcuri L and Maschan M and Obrien T and Diaz MA and Sevilla J and Smith O and Peffault De Latour R and De La Fuente J and Or R and Van Lint MT and Tolar J and Aljurf M and Fisher A and Skorobogatova EV and Diaz De Heredia C and Risitano A and Dalle JH and Sedlacek P and Ghavamzadeh A and Dufour C}, title = {Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita}, journal = {British Journal of Haematology}, volume = {183}, number = {1}, pages = {110-118}, year = {2018} }
RIS	TY - JOUR AU - Fioredda F AU - Iacobelli S AU - Korthof ET AU - Knol C AU - Van Biezen A AU - Bresters D AU - Veys P AU - Yoshimi A AU - Fagioli F AU - Mats B AU - Zecca M AU - Faraci M AU - Miano M AU - Arcuri L AU - Maschan M AU - Obrien T AU - Diaz MA AU - Sevilla J AU - Smith O AU - Peffault De Latour R AU - De La Fuente J AU - Or R AU - Van Lint MT AU - Tolar J AU - Aljurf M AU - Fisher A AU - Skorobogatova EV AU - Diaz De Heredia C AU - Risitano A AU - Dalle JH AU - Sedlacek P AU - Ghavamzadeh A AU - Dufour C TI - Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita JO - British Journal of Haematology VL - 183 IS - 1 SP - 110 EP - 118 PY - 2018 ER -

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