1. Outcomes of patients undergoing allogeneic haematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia; a study on behalf of the PDWP of the EBMT
- Author
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Aldebert, Clémence, Fahd, Mony, Galimard, Jacques-Emmanuel, Ghemlas, Ibrahim A., Zecca, Marco, Silva, Juliana, Mohseny, Alexander, Kupesiz, Alphan, Hamladji, Rose-Marie, Miranda, Nuno, Güngör, Tayfun, Wynn, Robert F., Merli, Pietro, Sundin, Mikael, Faraci, Maura, Diaz-de-Heredia, Cristina, Burkhardt, Birgit, Bordon, Victoria, Angoso, Marie, Bader, Peter, Ifversen, Marianne, Herrera Arroyo, Concepcion, Maximova, Natalia, Riesco, Susana, Stein, Jerry, Dalissier, Arnaud, Locatelli, Franco, Kalwak, Krzysztof, Dalle, Jean-Hugues, and Corbacioglu, Selim
- Abstract
Congenital amegakaryocytic thrombocytopenia is a rare, inherited bone marrow failure syndrome. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is currently the only curative treatment. In this retrospective study, we analysed 66 patients with allo-HSCT, reported in the European Society for Blood and Marrow Transplantation (EBMT) registry. Bone marrow (BM) was the most widely used stem cell source (n= 40; 61%) followed by peripheral blood (PB) (n= 18; 27%), and unrelated umbilical cord blood (UCB) (n= 8; 12%). Most frequently was a HLA-matched graft from related (n= 26; 39%) and unrelated (n= 15; 23%) donors after a myeloablative busulfan-based conditioning regimen. GvHD prophylaxis was mostly cyclosporine and methotrexate (53%). The 6-year cumulative incidence of graft-failure and second transplant were 25% and 17%, respectively. The 6-year disease-free survival (DFS) and overall survival (OS) were 66.9% and 85.6%, respectively. The 6-year transplant-related mortality (TRM) was 8.0%. In conclusion, most patients with CAMT benefit from allo-HSCT, but with many graft failures.
- Published
- 2024
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