title: Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor.
abstract: Congenital amegakaryocytic thrombocytopenia (CAMT) is characterized by severe thrombocytopenia and the absence of megakaryocytes in bone marrow. Furthermore, mutation of the c-mpl gene has been identified as a cause of this disorder. The only curative treatment is allogeneic stem cell transplantation (SCT). The current report describes a patient exhibiting c-mpl mutation in both alleles who underwent transplantation of allogeneic bone marrow donated by her brother, a c-mpl mutated carrier, employing a fludarabine-based conditioning regimen. Engraftment and reconstitution of hematopoietic cells was rapid and without complications. These findings suggest that the carrier donor displaying the c-mpl mutation can serve as a donor source for SCT.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Muraoka
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.forename: Miyoko
authors.initials: M
authors.lastname: Imayoshi
authors.forename: Sumio
authors.initials: S
authors.lastname: Miyazaki
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Hamasaki
mesh_terms: D016465:Bone Marrow Purging; D016026:Bone Marrow Transplantation; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D007166:Immunosuppressive Agents; D008533:Megakaryocytes; D017354:Point Mutation; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics* / Q000628:therapy; D013926:Thrombopoietin / Q000235:genetics*; D014740:Vidarabine / Q000031:analogs & derivatives*
chemical_list: D007166:Immunosuppressive Agents; D013926:Thrombopoietin; D014740:Vidarabine; C024352:fludarabine