[Gene Mutation and Acute Leukemia Transformation of Severe Congenital Neutropenia- Review]

Severe congenital neutropenia (SCN) is a rare disease of bone marrow failure. Absolute value of peripheral blood neutrophil of SCN significantly reduced. SCN has a high risk of transformation to myelodysplastic syndromes (MDS) / acute myeloid leukemia (AML). At present, there are 14 abnormal genes related to SCN, ELANE is the most common pathogenic gene, the main therapy of SCN is the application of granulocyte colony stimulating factor (G-CSF). CSF3R gene mutation often occurs in the treatment process, and can lead to acute myeloid leukemia. Further research on SCN/AML transformation mechanism is helpful to the diagnosis and treatment of this disease. This review focuses on the genetics and phenotypic polymorphysm in SCN patients, the therapeutic effect and risk of G-CSF for SCN patients, the effect of CSF3R matation on signal transduction of G-CSF, CSF3R mutation is important factor for SCN tranformation to acute myeloid leukemia, exploring the mechanism of SCN/AML transformation contributes to diagnosis and therapy for patients and so on.