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Hematopoietic stem cell transplantation in severe congenital neutropenia
Author(s) -
Carlsson G.,
Winiarski J.,
Ljungman P.,
Ringdén O.,
Mattsson J.,
Nordenskjöld M.,
Touw I.,
Henter J.I.,
Palmblad J.,
Fadeel B.,
Hägglund H.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22836
Subject(s) - medicine , congenital neutropenia , hematopoietic stem cell transplantation , neutropenia , transplantation , absolute neutrophil count , granulocyte colony stimulating factor , myelodysplastic syndromes , gastroenterology , immunology , oncology , bone marrow , chemotherapy
Background Severe congenital neutropenia (SCN) is an immunodeficiency characterized by disturbed myelopoiesis and an absolute neutrophil count (ANC) <0.5 × 10 9 /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. Procedure 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). Results 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. Conclusions 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.