Associated Genetic Biomarkers
Colony stimulating factor 3 receptor (CSF3R) is a gene that encodes the receptor associated with colony stimulating factor 3, which is a member of the family of cytokine receptors. Missense mutations, nonsense mutations, silent mutations, and frameshift mutations are observed in cancers such as colorectal cancer, leukemias, lung cancer, skin cancer, and stomach cancer.
CSF3R is altered in 1.33% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in CSF3R are CSF3R Mutation (1.25%), CSF3R Amplification (0.07%), CSF3R S469Afs*22 (0.06%), CSF3R Loss (0.02%), and CSF3R T618I (0.02%) .
CSF3R status serves as an inclusion eligibility criteria in 2 clinical trials, of which 1 is open and 1 is closed. Of the trials that contain CSF3R status as an inclusion criterion, 2 are phase 2 (1 open).
Trials with CSF3R status in the inclusion eligibility criteria most commonly target acute myeloid leukemia, atypical chronic myeloid leukemia, BCR-ABL1 negative, chronic neutrophilic leukemia, myelodysplastic syndrome with excess blasts-2, and myeloid neoplasm .
The most frequent alterations to serve as inclusion eligibility criteria are CSF3R Exon 14 Mutation, CSF3R Exon 15 Mutation, CSF3R Exon 17 Mutation, and CSF3R Mutation .
Allogeneic hematopoietic stem cell transplantation, liposome-encapsulated daunorubicin-cytarabine, and ruxolitinib are the most frequent therapies in trials with CSF3R as an inclusion criteria .
Significance of CSF3R in Diseases
Acute Myeloid Leukemia +
Myeloid Neoplasm +
Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +
CSF3R is an inclusion criterion in 1 clinical trial for atypical chronic myeloid leukemia, BCR-ABL1 negative, of which 0 are open and 1 is closed. Of the trial that contains CSF3R status and atypical chronic myeloid leukemia, BCR-ABL1 negative as inclusion criteria, 1 is phase 2 (0 open) .
Chronic Neutrophilic Leukemia +
CSF3R is an inclusion criterion in 1 clinical trial for chronic neutrophilic leukemia, of which 0 are open and 1 is closed. Of the trial that contains CSF3R status and chronic neutrophilic leukemia as inclusion criteria, 1 is phase 2 (0 open) .
Myelodysplastic Syndrome With Excess Blasts-2 +
CSF3R is an inclusion criterion in 1 clinical trial for myelodysplastic syndrome with excess blasts-2, of which 1 is open and 0 are closed. Of the trial that contains CSF3R status and myelodysplastic syndrome with excess blasts-2 as inclusion criteria, 1 is phase 2 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.