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

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.

Keywords:

• Gray platelet syndrome
• inherited platelet disorder
• stem cell transplantation

Authorship Contributions

R.F., X.R., E.De. designed the study and wrote the manuscript; R.F., X.R., S.A., E.D.M. provided clinical and biological data; R.F., J.C.B., V.G., P.H., A.N., I.B., M.F. performed and analyzed biological data; X.R., E.Da. and E.De. prepared and performed the transplantation; S.A., J.C.B., E.D.M., V.G., P.H., P.N., E.Da, E.De. critically reviewed the manuscript. All authors discussed and approved the manuscript.

Conflicts of interest disclosure

The authors declare no competing financial interests.

Supplementary materials

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