Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation.
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| 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.
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| Authors | Rémi Favier, Xavier Roussel, Sylvain Audia, Jean Claude Bordet, Emmanuel De Maistre, Pierre Hirsch, Anne Neuhart, Isabelle Bedgedjian, Vasiliki Gkalea, Marie Favier, Etienne Daguindau, Paquita Nurden, Eric Deconinck |
| Journal | Platelets (Platelets) Vol. 31 Issue 4 Pg. 536-540 (May 18 2020) ISSN: 1369-1635 [Electronic] England |
| PMID | 31502501 (Publication Type: Case Reports, Journal Article) |
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