A CSF3R T618I mutation in a patient with chronic neutrophilic leukemia and severe bleeding complications

Abstract

Chronic neutrophilic leukemia (CNL) is a rare form of myeloproliferative neoplasm characterized by the drastic elevation of mature neutrophils. One of the major causes of death among patients with CNL is severe bleeding; however, the difficulty of accurately diagnosing this disease has caused confusion in this field. Recently, somatic mutations of the CSF3R gene have been associated with CNL. This has led to the establishment of more accurate diagnostic criteria for CNL. We herein report a case study of a patient with CNL with a T618I point mutation on the CSF3R gene who showed severe bleeding.