title: Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation.
abstract: Chronic neutrophilic leukemia (CNL) is a rare disease and can cause considerable diagnostic difficulty. Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. Here we report the presence of the V617F mutation in a CNL patient, who is unusual for having survived for more than 96 months, with little disease progression. It remains to be established what role this mutation, which gives cells a proliferative advantage, might play in the pathogenesis and prognosis of rare atypical MPD.
authors.forename: Donald P
authors.initials: DP
authors.lastname: Mc Lornan
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Percy
authors.forename: Amy V
authors.initials: AV
authors.lastname: Jones
authors.forename: Nicholas C P
authors.initials: NC
authors.lastname: Cross
authors.forename: Mary Frances
authors.initials: MF
authors.lastname: Mc Mullin
mesh_terms: D019943:Amino Acid Substitution; D018906:Antineoplastic Agents, Alkylating / Q000627:therapeutic use; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2; D015467:Leukemia, Neutrophilic, Chronic / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017741:Survivors
chemical_list: D018906:Antineoplastic Agents, Alkylating; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D006918:Hydroxyurea