Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor.
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.
Muraoka
Kenji
K
Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
Ishii
Eiichi
E
Ihara
Kenji
K
Imayoshi
Miyoko
M
Miyazaki
Sumio
S
Hara
Toshiro
T
Hamasaki
Yuhei
Y
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*
D007166:Immunosuppressive Agents; D013926:Thrombopoietin; D014740:Vidarabine; C024352:fludarabine