Conflict of interest: Nothing to declare.
Hematopoietic stem cell transplantation in severe congenital neutropenia†
Article first published online: 11 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 56, Issue 3, pages 444–451, March 2011
How to Cite
Carlsson, G., Winiarski, J., Ljungman, P., Ringdén, O., Mattsson, J., Nordenskjöld, M., Touw, I., Henter, J.-I., Palmblad, J., Fadeel, B. and Hägglund, H. (2011), Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatr. Blood Cancer, 56: 444–451. doi: 10.1002/pbc.22836
- Issue published online: 10 JAN 2011
- Article first published online: 11 NOV 2010
- Manuscript Accepted: 20 AUG 2010
- Manuscript Received: 9 DEC 2009
- Swedish Children's Cancer Foundation
- Swedish Cancer Foundation
- Swedish Research Council
- Stockholm County Council
- hematopoietic stem cell transplantation;
- myelodysplastic syndrome/leukemia;
- severe congenital neutropenia
Severe congenital neutropenia (SCN) is an immunodeficiency characterized by disturbed myelopoiesis and an absolute neutrophil count (ANC) <0.5 × 109/L. SCN is also a premalignant condition; a significant proportion of patients develop myelodysplastic syndrome or leukemia (MDS/L). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for SCN.
Since 2004, eight HSCT have been performed in seven patients at our center. The indications were transformation to MDS/L (n = 2), granulocyte colony-stimulating factor receptor (CSF3R) mutation(s) (n = 2), granulocyte colony-stimulating factor (G-CSF) resistance (n = 2), and at the patient's own request (n = 1).
The mean age at transplantation was 13 years (2.8–28 years) (mean follow-up 32 months, range 21–60). Three patients harbored ELANE mutations, three HAX1 mutations, and in one patient no causative mutation was identified. Two of the ELANE mutations were novel mutations. Three patients initially received myeloablative conditioning and four had reduced intensity conditioning (RIC). Three grafts were from HLA-identical siblings, three from matched unrelated donors and two were cord blood units. Engraftment occurred in all patients. Two of seven (29%) patients died; both had MDS/L and both were among the three that underwent myeloablative conditioning. One patient has chronic GVHD 2 years post-transplant.
The role of HSCT should be explored further in patients with SCN. In particular, the influence of the conditioning regime needs to be evaluated in a larger cohort of patients. Pediatr Blood Cancer 2011;56:444–451. © 2010 Wiley-Liss, Inc.