ELANE neutropenia (EN) is associated with myelodysplasia/acute-leukemia (MDS-AL) as well as severe infections. As the risk of MDS-AL has been shown to be associated with the exposure to GCSF, since 2005, in France, patients that receive a high daily dose of GCSF (>15 μg/kg/day), are eligible for hematopoietic stem cell transplantation (HSCT), in addition to classic indications of HSCT (MDS-AL, or GCSF refractoriness). We analyzed the effect of this policy
Among 144 patients with ELANE neutropenia enrolled in the French Severe Chronic Neutropenia Registry (FSCNR), prospectively followed, we defined 2 groups according to the period of follow up. The first group called “before 2005” included patients born before 2005 and followed till 31/12/2004 (1588 person-years). The second one designed by “after 2005” comprised patients born after 2005 or patients born before 2005 but followed after 2005 till 31/03/2019 (1327 person-years).
16 HSCT has been performed in our cohort (14 with long term survival) and 6 MDS-AL has been observed. 6 leukemic transformations occurred in the group “before 2005” and no “after 2005”. (Incidence 3.8 x 10-3 “before 2005” vs. 0 “after 2005”; p< 0.01) while 4 HSCT has been performed before 2005 and 12 since 2005 (incidence of HSCTs increased 2.5 x 10-3“before 2005” vs. 9 x 10-3 “after 2005”; p< 0.01).
Our results supported early HSCT in patients with ELANE mutations that received high GCSF doses (>15 μg/kg/day but not considered as refractory to GCSF) might lower the risk of leukemic transformation.