Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis
Corresponding Author
Sajad Khazal
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Correspondence
Sajad Khazal, Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Cancer Center, MD Anderson Children's Cancer Hospital, Houston, TX, USA.
Email: [email protected]
Search for more papers by this authorVeronika Polishchuk
Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorGary Soffer
Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorSamantha Prinzing
Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorJonathan Gill
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Search for more papers by this authorKris M. Mahadeo
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Search for more papers by this authorCorresponding Author
Sajad Khazal
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Correspondence
Sajad Khazal, Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Cancer Center, MD Anderson Children's Cancer Hospital, Houston, TX, USA.
Email: [email protected]
Search for more papers by this authorVeronika Polishchuk
Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorGary Soffer
Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorSamantha Prinzing
Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Search for more papers by this authorJonathan Gill
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Search for more papers by this authorKris M. Mahadeo
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA
Search for more papers by this authorAbstract
Primary isolated CNS presentation of HLH is exceedingly rare and typically associated with significant morbidity and mortality. We describe an adolescent patient with late-onset, primary isolated CNS HLH and a compound heterozygous PRF1 mutation (c50delT (p.L17 fs); c.1229G>C (p.R410P)), not previously reported with this phenotype. He was successfully treated with allogeneic HSCT following a reduced-intensity conditioning regimen, despite a high pre-HSCT comorbidity index. Two years after transplant, he is alive and in disease remission. While patients with systemic HLH and active CNS disease have relatively poorer outcomes, a high index of suspicion may aid with early diagnosis of primary isolated CNS HLH; prompt treatment with HSCT may be associated with improved cure and durable remission of this rare disease.
CONFLICT OF INTEREST
The authors declare no competing financial interests.
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