Reference Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Ref Type

PMID

(36579444)

Authors

Maniaci BN, Chung J, Sanz-Altamira P, DeAngelo DJ, Maxson JE

Title

A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia.

Journal	Vol	Issue	Date	Pages	Journal Short Title
Haematologica	108	7	2023 Jul 01	1945-1950	Haematologica

URL

Abstract Text

Filtering

Case insensitive filtering will display rows if any text in any cell matches the filter term
Use simple literal full or partial string matches
Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
Click on any column header arrows to sort by that column
Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Filter rows:

Showing 1 to 2 of 2 entries

Gene	Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance
CSF3R	N579Y	missense	gain of function	CSF3R N579Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N579Y confers a gain of function to Csf3r as demonstrated by cytokine-independent growth and increased Erk1/2 and Stat3 phosphorylation in cultured cells (PMID: 36579444).
CSF3R	Q739*	nonsense	unknown	CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212, PMID: 36579444), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2025).

Showing 1 to 2 of 2 entries

Filter rows:

Filter rows:

Showing 1 to 3 of 3 entries

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
CSF3R N579Y CSF3R Q739* CSF3R Q741*	chronic neutrophilic leukemia	predicted - sensitive	Ruxolitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Jakafi (ruxolitinib) treatment inhibited colony formation of hematopoietic progenitor cells isolated from the bone marrow of a patient with chronic neutrophilic leukemia harboring CSF3R N579Y, Q739, and Q741 in culture (PMID: 36579444).	36579444
CSF3R N579Y	hematologic cancer	sensitive	Ruxolitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Jakafi (ruxolitinib) treatment inhibited colony formation and decreased viability of transformed cells expressing CSF3R N579Y in culture (PMID: 36579444).	36579444
CSF3R T618I	hematologic cancer	sensitive	Ruxolitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Jakafi (ruxolitinib) inhibited growth of a transformed cell line expressing CSF3R T618I in culture (PMID: 36579444).	36579444

Showing 1 to 3 of 3 entries

Filter rows: