Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation

• Published in: Platelets (Edinburgh) 2020-05, Vol.31 (4), p.536-540
• Main Authors: 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, Deconinck, Eric
• Format: Article
• Language: English
• Subjects: gray platelet syndrome; inherited platelet disorder; stem cell transplantation
• ISSN: 0953-7104; 1369-1635
• DOI: 10.1080/09537104.2019.1663809

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.