title: Chronic neutrophilic leukemia with overexpression of EVI-1, and concurrentCSF3RandSETBP1mutations: A case report.
abstract: Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been described in the literature; however, none have demonstrated overexpression of the ecotropic viral integration site-1 (EVI-1, also known asMECOM) gene. The present study describes a case that fulfilled the World Health Organization diagnostic criteria for CNL, and was associated with overexpression of EVI-1, as well as novel concurrent mutations of colony stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1). In addition, the current study briefly reviewed the relevant literature regarding novel genetic findings associated with the diagnosis and treatment of CNL. To the best of our knowledge, this is the first case report of CNL with associated EVI-1 overexpression, and concurrentCSF3RandSETBP1mutations.
authors.affiliation: Department of Hematology, Tianjin First Central Hospital, First Central Clinical College of Tianjin Medical University, Tianjin 300192, P.R. China ; Department of Internal Medicine, Division of Hematology, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.
authors.forename: Otgonbat
authors.initials: O
authors.lastname: Altangerel
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.
authors.forename: Shannan
authors.initials: S
authors.lastname: Cao
authors.affiliation: Department of Hematology, Tianjin First Central Hospital, First Central Clinical College of Tianjin Medical University, Tianjin 300192, P.R. China.
authors.forename: Juanxia
authors.initials: J
authors.lastname: Meng
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.
authors.forename: Peng
authors.initials: P
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.
authors.forename: Gong
authors.initials: G
authors.lastname: Haiyan
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.
authors.forename: Yuanfu
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Hematology, Tianjin First Central Hospital, First Central Clinical College of Tianjin Medical University, Tianjin 300192, P.R. China.
authors.forename: Mingfeng
authors.initials: M
authors.lastname: Zhao
keywords: SET binding receptor mutation; chronic neutrophilic leukemia; colony stimulating factor 3 receptor mutation; ecotropic viral integration site-1