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  • Title: Chronic neutrophilic leukemia 2014: Update on diagnosis, molecular genetics, and management.
    Author: Elliott MA, Tefferi A.
    Journal: Am J Hematol; 2014 Jun; 89(6):651-8. PubMed ID: 24845374.
    Abstract:
    DISEASE OVERVIEW: Chronic neutrophilic leukemia (CNL) is a myeloproliferative neoplasm characterized by sustained, mature neutrophilic leukocytosis, splenomegaly, and bone marrow granulocytic hyperplasia. DIAGNOSIS: Key diagnostic criteria include leukocytosis of >25 × 10(9) /l (of which >80% are neutrophils) with <10% and <1% circulating immature granulocytes and myeloblasts, respectively. There should be no dysplasia, monocytosis, molecular evidence of BCR-ABL1, PDGFRA, PDGFRB, or FGRF1 rearrangements and no identifiable cause for physiologic neutrophilia or, if present, demonstration of myeloid clonality. DEVELOPMENTS IN MOLECULAR GENETICS: Recently, CNL has been shown to be specifically driven by somatic activating mutations of CSF3R, most commonly CSF3R T618I. As such, the diagnosis of CNL will no longer be one of exclusion only, and revision of the current WHO classification is anticipated to include the molecular criterion of mutated CSF3R.
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