Hematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare aetiology of central thrombocytopenia characterised by severe reduction or absence of megakaryocytes in the bone marrow. This disease is caused by mutations in the c-MPL gene encoding for the receptor of thrombopoietin (TPO). The clinical presentation is variable and can often be mistaken for foetal/neonatal alloimmune thrombocytopenia or idiopathic thrombocytopenic purpura. Because of treatment failure, a central thrombocytopenia is suspected. The diagnosis is made by the bone marrow examination, the dosage of TPO and identification of mutations in the c-MPL gene. The outcome is quickly pancytopenia. Description of four new single-center observations of patients treated for CAMT, who underwent allogeneic hematopoietic stem cell transplantation, allowed to focus on this disease and its therapeutic approach. According to the type of c-MPL mutations, a variable outcome has been discussed. Because of haemorrhagic risk and the possibility of a malignant evolution, a stem cell transplantation, being the only curative treatment, must be considered as soon as the diagnosis is established. Gene therapy might be an interesting future prospect. (C) 2014 Elsevier Masson SAS. All rights reserved.