title: CSF3R T618I, ASXL1 G942 fs and STAT5B N642H trimutation co-contribute to a rare chronic neutrophilic leukaemia manifested by rapidly progressive leucocytosis, severe infections, persistent fever and deep venous thrombosis.
authors.affiliation: Department of Haematology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Qianhui
authors.initials: Q
authors.lastname: Luo
authors.affiliation: Department of Haematology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Jiankai
authors.initials: J
authors.lastname: Shen
authors.affiliation: Department of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Tang
authors.affiliation: Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Shi
authors.affiliation: Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Liu
authors.affiliation: National and Local Joint Engineering Laboratory for Animal Peptide Drug development, College of Life Sciences, Huan Normal University, Changsha, Hunan Province, China.
authors.forename: Zhonghua
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Xiaoliu
authors.initials: X
authors.lastname: Shi
authors.affiliation: Department of Haematology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yi
mesh_terms: D005260:Female; D005334:Fever / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007239:Infections / Q000235:genetics* / Q000473:pathology; D015467:Leukemia, Neutrophilic, Chronic / Q000235:genetics* / Q000473:pathology; D007964:Leukocytosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D050799:STAT5 Transcription Factor / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics* / Q000473:pathology
chemical_list: C473949:ASXL1 protein, human; C517047:CSF3R protein, human; D009363:Neoplasm Proteins; D016184:Receptors, Colony-Stimulating Factor; D012097:Repressor Proteins; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human
keywords: chronic neutrophilic leukaemia; colony-stimulating factor 3 receptor; differential diagnosis; next generation sequencing; pathogenic mutation