Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation.
Adult
Blood Platelets
/ metabolism
Cyclosporine
/ therapeutic use
Graft vs Host Disease
/ drug therapy
Gray Platelet Syndrome
/ drug therapy
Hematopoietic Stem Cell Transplantation
Humans
Male
Microscopy, Electron, Transmission
Nitriles
Primary Myelofibrosis
/ therapy
Pyrazoles
/ therapeutic use
Pyrimidines
Splenomegaly
/ drug therapy
Time Factors
Transplantation Conditioning
Gray platelet syndrome
inherited platelet disorder
stem cell transplantation
Journal
Platelets
ISSN: 1369-1635
Titre abrégé: Platelets
Pays: England
ID NLM: 9208117
Informations de publication
Date de publication:
18 May 2020
18 May 2020
Historique:
pubmed:
11
9
2019
medline:
26
11
2020
entrez:
11
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31502501
doi: 10.1080/09537104.2019.1663809
doi:
Substances chimiques
Nitriles
0
Pyrazoles
0
Pyrimidines
0
ruxolitinib
82S8X8XX8H
Cyclosporine
83HN0GTJ6D
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM