Identifying Two Novel Mutations and MDS/AML Outcome of Severe Congenital Neutropenia/Cyclic Neutropenia

Abstract Severe congenital neutropenia (SCN)/cyclic neutropenia (CyN), a rare disease, is caused by ELANE or ELA2 gene mutations. The study reported that 4 children (2 SCN and 2 CyN) presented with recurrent infections. The two novel mutations, p. Ala79del and p.Val197GlufsTer18, in exons 3 and 4, were identified, causing SCN and CyN, respectively. One patient with the longest follow-up time of 12.9 years developed MDS/AML with a complex karyotypes and SETBP1 (c.2602G > A, p.D868N) and NRAS (c.34G > A, p.G12S) mutations, was successfully treated with azacytidine and matched unrelated hematopoietic stem cell transplantation.