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Test · Diagnostics

Chronic Neutrophilic Leukemia (CNL)(CSF3R Gene - Exon 14 & 17; SETBP Gene - Exon 4)

Free home sample collection, physician reviewed2 WeeksReports inBloodSample

CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. Somatic CSF3R mutations were recently described in 50% to 80% of chronic neutrophilic leukemia (CNL) patients. Their association with atypical chronic myelogenous leukemia (aCML) remains controversial. They have also been reported as somatic events in severe congenital neutropenia (SCN) patients. There are 2 types of CSF3R mutations: extracellular domain/membrane proximal point mutations (most commonly p.T618I) and cytoplasmic tail truncation mutations. They demonstrated sensitivity to JAK kinase inhibitors and Src kinase inhibitors, respectively, in in vitro assays. In CNL, the most common mutation is p.T618I, although cytoplasmic truncation mutation can also occur. Somatic cytoplasmic truncation mutations have been reported in approximately 30% of SCN patients and 80% of SCN patients with leukemic transformation, who are often on granulocyte-colony stimulating factor (GCSF) therapy. However, their role in leukemic transformation is uncertain.

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