1. Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation.
- Author
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Favier, Rémi, Roussel, Xavier, Audia, Sylvain, Bordet, Jean Claude, De Maistre, Emmanuel, Hirsch, Pierre, Neuhart, Anne, Bedgedjian, Isabelle, Gkalea, Vasiliki, Favier, Marie, Daguindau, Etienne, Nurden, Paquita, and Deconinck, Eric
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STEM cell transplantation , *MYELOFIBROSIS , *GRAFT versus host disease , *RED blood cell transfusion , *BLOOD platelets , *HEMATOPOIETIC stem cells - Abstract
Gray platelet syndrome (GPS) is an inherited disorder. Patients harboring GPS have thrombocytopenia with large platelets lacking α-granules. A long-term complication is myelofibrosis with pancytopenia. Hematopoietic stem cell transplant (HSCT) could be a curative treatment. We report a male GPS patient with severe pancytopenia, splenomegaly and a secondary myelofibrosis needing red blood cells transfusion. He received an HSCT from a 10/10 matched HLA-unrelated donor after a myeloablative conditioning regimen. Transfusion independence occurred at day+21, with a documented neutrophil engraftment. At day+ 180, we added ruxolitinib to cyclosporine and steroids for a moderate chronic graft versus host disease (GVHD) and persistent splenomegaly. At day+240 GVHD was controlled and splenomegaly reduced. Complete donor chimesrism was documented in blood and marrow and platelets functions and morphology normalized. At day+ 720, the spleen size normalized and there was no evidence of marrow fibrosis on the biopsy. In GPS, HSCT may be a curative treatment in selected patients with pancytopenia and myelofibrosis. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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