title: 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.
authors.affiliation: Department of Hematology and Oncology, University of Yamanashi, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Mitsumori
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
authors.forename: Keita
authors.initials: K
authors.lastname: Kirito
mesh_terms: D002352:Carrier Proteins; D017809:Fatal Outcome; D005260:Female; D006470:Hemorrhage / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D015467:Leukemia, Neutrophilic, Chronic / Q000150:complications* / Q000235:genetics; D009102:Multiple Organ Failure / Q000209:etiology* / Q000473:pathology*; D009196:Myeloproliferative Disorders; D017354:Point Mutation; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics / Q000378:metabolism*; D013163:Splenomegaly / Q000209:etiology
chemical_list: C517047:CSF3R protein, human; D002352:Carrier Proteins; D016184:Receptors, Colony-Stimulating Factor