Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: analysis of 47 patients from a single institution

Abstract

We transplanted 47 patients with Fanconi anemia using an alternative source of hematopoietic cells. The patients were assigned to the following groups: group 1, unrelated bone marrow (N = 15); group 2, unrelated cord blood (N = 17), and group 3, related non-sibling bone marrow (N = 15). Twenty-four patients (51%) had complete engraftment, which was not influenced by gender (P = 0.87), age (P = 0.45), dose of cyclophosphamide (P = 0.80), nucleated cell dose infused (P = 0.60), or use of anti-T serotherapy (P = 0.20). Favorable factors for superior engraftment were full HLA compatibility (independent of the source of cells; P = 0.007) and use of a fludarabine-based conditioning regimen (P = 0.046). Unfavorable factors were ≥25 transfusions pretransplant (P = 0.011) and degree of HLA disparity (P = 0.007). Intensity of mucositis (P = 0.50) and use of androgen prior to transplant had no influence on survival (P = 0.80). Acute graft-versus-host disease (GVHD) grade II-IV and chronic GVHD were diagnosed in 47 and 23% of available patients, respectively, and infections prevailed as the main cause of death, associated or not with GVHD. Eighteen patients are alive, the Kaplan-Meyer overall survival is 38% at ~8 years, and the best results were obtained with related non-sibling bone marrow patients. Three recommendations emerged from the present study: fludarabine as part of conditioning, transplant in patients with <25 transfusions and avoidance of HLA disparity. In addition, an extended family search (even when consanguinity is not present) seeking for a related non-sibling donor is highly recommended. Correspondence

Allogeneic Hematopoietic Stem Cell Transplantation for Adult Patients With Fanconi Anemia.

“…The primary cause of mortality in our study was GVHD (4 acute and 1 chronic) and infection which is comparable to former studies 17. Guardiola et al suggested that the effect of on mortality is not confined to severe acute GVHD in the first post-transplant months and it also probably by inducing chronic GVHD can be a risk factor for development of secondary malignancies, particularly in patients transplanted with peripheral blood 7,18.…”

The outcome of children with Fanconi anemia given hematopoietic stem cell transplantation and the influence of fludarabine in the conditioning regimen: a report from the Italian pediatric group

“…5,10,12,24 Graft rejection, regimen-related toxicity and high risk of GVHD have been reported to be the greatest obstacles to successful outcome in patients with FA given HSCT from an UD.…”

Características clínicas de pacientes com anemia de Fanconi

“…Given the importance of identifying these patients and the lack of studies conducted in Brazil mainly focused on their clinical characteristics (10)(11)(12)(13)(14)(15) , the objective of the present study was to characterize the clinical profile of patients diagnosed with FA seen at a clinical genetics department.…”