Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience


Kuskonmaz B. B. , ÇAĞDAŞ AYVAZ D. N. , Gokce M., Ozgur T. T. , OKUR F. V. , Cetin M., ...More

PEDIATRIC TRANSPLANTATION, vol.21, no.7, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 7
  • Publication Date: 2017
  • Doi Number: 10.1111/petr.13040
  • Journal Name: PEDIATRIC TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Griscelli syndrome, hemophagocytic lymphohistiocytosis, transplantation, HEPATIC VENOOCCLUSIVE DISEASE, BONE-MARROW-TRANSPLANTATION, LEUKEMIA WORKING PARTY, VERSUS-HOST-DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, ACCELERATED PHASE, OCCLUSIVE DISEASE, EUROPEAN-SOCIETY, SYNDROME TYPE-2, SOLID CANCERS
  • Hacettepe University Affiliated: Yes

Abstract

GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. The median age of the patients at transplant was 13.5 months (range, 6-58 months). All of the patients developed HLH before HSCT and received HLH 94 or HLH 2004 protocols. Donors were HLA-identical relatives in 8 patients, HLA-mismatched relatives in 2 patients. Engraftment was achieved in all except one patient. None of the patients developed acute GVHD. Chronic GVHD occurred in one and veno-occlusive disease occurred in four patients. Eight of the patients are under remission without any neurologic sequelae-median time of disease-free survival is 92.4 months. The present study shows successful transplant outcome without long-term neurologic sequelae in patients with GS2 who underwent HSCT from HLA-related donors.