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Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita
Author(s) -
Fioredda Francesca,
Iacobelli Simona,
Korthof Elisabeth T.,
Knol Cora,
Biezen Anja,
Bresters Dorine,
Veys Paul,
Yoshimi Ayami,
Fagioli Franca,
Mats Brune,
Zecca Marco,
Faraci Maura,
Miano Maurizio,
Arcuri Luca,
Maschan Michael,
O'Brien Tracey,
Diaz Miguel A.,
Sevilla Julian,
Smith Owen,
Peffault de Latour Regis,
de la Fuente Josue,
Or Reuven,
Van Lint Maria T.,
Tolar Jakub,
Aljurf Mahmoud,
Fisher Alain,
Skorobogatova Elena V.,
Diaz de Heredia Cristina,
Risitano Antonio,
Dalle JeanHugues,
Sedláček Petr,
Ghavamzadeh Ardeshir,
Dufour Carlo
Publication year - 2018
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15495
Subject(s) - dyskeratosis congenita , medicine , stem cell , hematopoietic stem cell transplantation , haematopoiesis , bone marrow failure , transplantation , oncology , disease , cohort , hematology , immunology , biology , dna , genetics , telomere
Summary 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.