RESUMO
Several factors unique to Fanconi anemia (FA) limit the success of allogeneic hematopoietic stem cell transplantation (HSCT) in this population. In this report, we describe a multi-center pilot study of five consecutive FA patients with high-risk features for transplant prepared with fludarabine, without radiation. Four patients engrafted quickly, experienced minimal toxicity and are well at 43-65 months post-transplant. One patient had a C-mismatched unrelated donor transplant and had unsustained engraftment. This fludarabine based regimen without radiation was safe and effective for four high-risk patients, suggesting that eliminating radiation should be further studied as an approach to HSCT in children with FA.
Assuntos
Anemia de Fanconi/cirurgia , Transplante de Células-Tronco Hematopoéticas , Condicionamento Pré-Transplante/métodos , Vidarabina/análogos & derivados , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Sobrevivência de Enxerto/efeitos dos fármacos , Humanos , Masculino , Projetos Piloto , Radiação , Fatores de Risco , Transplante Homólogo , Resultado do Tratamento , Vidarabina/farmacologiaRESUMO
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome that has the potential to progress to pancytopenia and acute myeloid leukemia. Hematopoietic stem-cell transplantation (HSCT) is presently the only curative treatment approach. We used a reduced intensity transplantation regimen in a CAMT patient with aplastic anemia and monosomy 7 who had no matched related donor. The patient had rapid and durable engraftment with minimal complications and is well 24 months post-transplantation. Thus, reduced intensity conditioning might be a feasible approach to stem-cell transplantation in patients with CAMT who do not have a related donor and who are at increased risk of toxicity from standard conditioning regimens.