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CSF3R any frameshift
GeneCSF3R
Variantframeshift
Transcript ID (GRCh37/hg19)ENST00000373103
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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CSF3R
Variants
CSF3R T618I
CSF3R any nonsense
CSF3R any frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Chronic Neutrophilic Leukemia
Atypical Chronic Myeloid Leukemia
Interpretation

The activating missense membrane-proximal mutation in CSF3R (p.T618I) has been reported to occur in approximately 83% of cases of chronic neutrophilic leukemia; some reports indicate this mutation may be present in cases of atypical chronic myeloid leukemia as well. The CS3R T618I mutation has been associated with response to JAK2 inhibitors but not dasatinib. A germline activating CSF3R mutation (p. T617N) has been described in autosomal dominant hereditary neutrophilia associated with splenomegaly and increased circulating CD34-positive myeloid progenitors. Nonsense and/or frameshift somatic mutations truncating the cytoplasmic domain of CSF3R have been described in approximately 40% of patients with severe congenital neutropenia and in the context of mutations in other genes may be associated with progression to acute myeloid leukemia. These activating truncating mutations have also been found in patients with chronic neutrophilic leukemia or atypical chronic myeloid leukemia. Some of these cytoplasmic truncating mutations have been associated with responses to dasatinib but not JAK2 inhibitors.

Last updated: 2020-07-24 14:50:32 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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