Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy

TLDR

In severe congenital neutropenia, long‑term G‑CSF therapy has lowered sepsis mortality, uncovering a predisposition to myelodysplastic syndrome and acute myeloid leukemia. The study aims to clarify the long‑term risk of MDS/AML in SCN patients on G‑CSF. The authors updated a prospective cohort of 374 SCN patients from the Severe Chronic Neutropenia International Registry. Over the long term, the annual MDS/AML risk plateaued at 2.3 % per year after 10 years, a rate comparable to AML risk in Fanconi anemia and dyskeratosis congenita.

Abstract

Summary In severe congenital neutropenia (SCN), long‐term therapy with granulocyte colony‐stimulating factor (G‐CSF) has reduced mortality from sepsis, revealing an underlying predisposition to myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML). We have reported the early pattern of evolution to MDS/AML, but the long‐term risk remains uncertain. We updated a prospective study of 374 SCN patients on long‐term G‐CSF enrolled in the Severe Chronic Neutropenia International Registry. Long‐term, the annual risk of MDS/AML attained a plateau (2·3%/year after 10 years). This risk now appears similar to, rather than higher than, the risk of AML in Fanconi anaemia and dyskeratosis congenita.