5 research outputs found
Stem cell transplantation for congenital dyserythropoietic anemia : an analysis from the European Society for Blood and Marrow Transplantation
Non peer reviewe
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
PNP deficiency is an autosomal recessive metabolic disorder
characterized by severe combined immunodeficiency, autoimmune hemolytic
anemia, and by a complex of neurologic manifestations including ataxia,
developmental delay, and spasticity. PNP protein catalyzes the
phosphorolysis of deoxyinosine and deoxyguanosine. It is found in most
tissues of the body but is expressed at the highest levels in lymphoid
tissues. This tissue distribution explains why the lymphoid system is
predominantly affected in PNP deficiency. We describe a five-yr-old boy
with muscular hypertonia, impaired growth, autoimmune hemolytic anemia,
and neutropenia who underwent HSCT from his HLA-identical sister. One yr
post-HSCT, the boy developed normal immunological functions, and his
neurological status improved
Allogeneic hematopoietic stem cell transplantation in infants is associated with significant morbidity and mortality
Background Infants are subjected to hematopoietic stem cell
transplantation (HSCT) due to malignant and non-malignant diseases.
However, specific data concerning the outcome and
transplantation-related complications in infants, as a separate age
group, are limited. Our aim was to evaluate the impact of infancy on the
outcome, toxicity, and complications after HSCT. Methods We
retrospectively analyzed data of 55 infants that underwent HSCT in our
unit from May 1997 until February 2020, emphasizing on the probability
of overall survival (OS) and the cumulative incidence (CI) of
transplantation-related mortality (TRM) and complications. Results We
report a probability of OS of 61%, a CI of TRM at day 100 and 365 post
transplantation of 22% and 30%, respectively, and additionally a CI of
graft failure, acute graft-versus-host disease (GvHD), and infectious
complications, 18%, 44%, and 39%, respectively. No statistically
significant association was detected between the above mentioned
parameters and diagnosis, the use of myeloablative or
non-myeloablative/reduced toxicity conditioning regimens or the type of
donor. Conclusions We conclude that HSCT in infancy is associated with
significant mortality and morbidity. This is possibly attributed to
endogenous, age-related factors. More specifically, infants may be at a
higher risk of toxicities due to the immaturity of developing vital
organs and the deficiency of the newly adopted immune system that
predisposes them to infectious complications. The development of GvHD
further augments the danger of infections, in a potential vice-versa
relationship. Moreover, there are few data on pharmacokinetics of
chemotherapy agents, making safe and efficacious drug administration
hard
Transplantation for congenital sideroblastic anaemia is feasible and offers outcomes comparable to other transfusion dependent anaemias : a joint retrospective study of the paediatric diseases and severe aplastic anaemia working parties (PDWP/SAAWP) of EBMT
Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?-A multicenter EBMT-PDWP study.
Although most children with acute lymphoblastic leukemia (ALL) receive fractionated total body irradiation (FTBI) as myeloablative conditioning (MAC) for allogeneic hematopoietic stem cell transplantation (allo-HSCT), it is an important matter of debate if chemotherapy can effectively replace FTBI. To compare outcomes after FTBI versus chemotherapy-based conditioning (CC), we performed a retrospective EBMT registry study. Children aged 2-18 years after MAC for first allo-HSCT of bone marrow (BM) or peripheral blood stem cells (PBSC) from matched-related (MRD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included. Propensity score weighting was used to control pretreatment imbalances of the observed variables. 3.054 patients were analyzed. CR1 (1.498): median follow-up (FU) after FTBI (1.285) and CC (213) was 6.8 and 6.1 years. Survivals were not significantly different. CR2 (1.556): median FU after FTBI (1.345) and CC (211) was 6.2 years. Outcomes after FTBI were superior as compared with CC with regard to overall survival (OS), leukemia-free survival (LFS), relapse incidence (RI), and nonrelapse mortality (NRM). However, we must emphasize the preliminary character of the results of this retrospective "real-world-practice" study. These findings will be prospectively assessed in the ALL SCTped 2012 FORUM trial