|
- Heterozygous germ line CSF3R variants as risk alleles for development . . .
In this study, we identified unique invariant variants within the colony-stimulating factor 3 receptor (CSF3R) gene using results from tumor-based NGS panels performed in patients with hematologic malignancies
- Implications of CSF3R and other Novel Mutations in Chronic Neutrophilic . . .
Through drug sensitivity profiling, it was observed that mutations that lead to truncation of the cytoplasmic tail lead to dysregulation in the SRC family-TNK2 kinases, whereas mutations in membrane proximal lead to dysregulation in JAK family kinases
- A Novel CSF3R Activating Mutation Identified in a Patient with Chronic . . .
The membrane proximal point mutations-notably T618I-are the most common in CNL These point mutations lead to the loss of glycosylation sites, causing ligand-independent dimerization of the receptor and enhanced activation of downstream signaling pathways
- NM_000760. 4 (CSF3R):c. 1853C gt;T (p. Thr618Ile) AND Autosomal recessive . . .
Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib Ammatuna E, Eefting M, van Lom K, Kavelaars FG, Valk PJ, Touw IP Ann Hematol 2015 May;94 (5):879-80 doi: 10 1007 s00277-014-2272-0 Epub 2014 Dec 11 No abstract available
- Next-generation sequencing panel for diagnosis and management of . . . - HKMJ
(a) The Integrated Genomic Viewer snapshot indicated a mutation located at CSF3R c 1853C>T (p Thr618Ile) The upper panel indicates the position of CSF3R on chromosome 1p (red bar)
- Durable remission with ruxolitinib in a chronic neutrophilic leukemia . . .
Targeted next-generation sequencing revealed two CSF3R mutations, the common proximal membrane mutation T618I and a truncation mutation Q749X In addition, the DNMT3A hotspot mutation R882C was detected
- Clonal evolution in a chronic neutrophilic leukemia patient
Approximately 75% of patients with CNL who have CSF3R mutations exhibit only membrane-proximal mutations, whereas the other 25% of patients harbor both membrane-proximal and truncating-compound mutations [3]
- A Novel CSF3R Mutation Uncovers the Importance of Membrane-Proximal N . . .
The most common CSF3R mutation in CNL is T618I (aka T595I), a point mutation in the membrane-proximal extracellular domain that causes ligand independence Mutations that lead to a premature stop in the cytoplasmic domain are also found in CNL and result in increased expression of CSF3R on the cell surface
|
|
|