Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia.
BACKGROUND
Allogeneic stem cell transplantation is the only curative option for patients with hereditary bone marrow failure syndromes. Umbilical cord blood is an alternative source of stem cells for allogeneic transplantation.


METHODS
This multicenter, retrospective study is based on data reported to the Eurocord Registry about patients with hereditary bone marrow failure syndrome who underwent umbilical cord blood transplantation.


RESULTS
Sixty-four patients with hereditary bone marrow failure syndromes were transplanted from related (n = 20) or unrelated donors (n = 44). Diagnoses were Diamond-Blackfan anemia (21 patients), congenital amegakaryocytic thrombocytopenia (16 patients), dyskeratosis congenita (8 patients), Shwachman-Diamond syndrome (2 patients), severe congenital neutropenia (16 patients) and unclassified (1 patient). In the group of patients who received grafts from related donors, all patients but one received an HLA-matched sibling transplant. The median number of total nucleated cells infused was 5 × 10⁷/kg. The cumulative incidence of neutrophil recovery at 60 days was 95%. Two patients had grade II-IV acute graft-versus-host disease, while the 2-year cumulative incidence of chronic graft-versus-host disease was 11%. The 3-year overall survival rate was 95%. In the group of patients who received grafts from unrelated donors, 86% had HLA-mismatched grafts and three received two umbilical cord blood units. The median number of total nucleated cells infused was 6.1 × 10⁷/kg. The cumulative incidence of neutrophil recovery at day 60 in this group was 55%. The 100-day cumulative incidence of grade II-IV acute graft-versus-host disease was 24%, while the 2-year cumulative incidence of chronic graft-versus-host disease was 53%. The 3-year overall survival rate was 61%; better overall survival was associated with age less than 5 years (P = 0.01) and 6.1 × 10⁷/kg or more total nucleated cells infused (P = 0.05).


CONCLUSIONS
In patients with hereditary bone marrow failure syndromes, related umbilical cord blood transplantation is associated with excellent outcomes while increasing cell dose and better HLA matching might provide better results in unrelated umbilical cord blood transplantation.
Eurocord Hospital Saint Louis, Paris cedex 10, France. eliane.gluckman@sls.aphp.fr
Renata
R
Bizzetto
Carmen
C
Bonfim
Vanderson
V
Rocha
Gérard
G
Socié
Franco
F
Locatelli
Kawah
K
Chan
Oscar
O
Ramirez
Joel
J
Stein
Samir
S
Nabhan
Eliana
E
Miranda
Jakob
J
Passweg
Carmino Antonio
CA
de Souza
Eliane
E
Gluckman
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic; D029503:Anemia, Diamond-Blackfan / Q000628:therapy*; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D002648:Child; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D005312:Fetal Blood; D006086:Graft vs Host Disease; D006457:Hemoglobinuria, Paroxysmal / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D015996:Survival Rate; D014019:Tissue Donors; D016896:Treatment Outcome; D055815:Young Adult