Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.T640N
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CSF3R

NM_000760.4:p.T640N

Associated Papers

CSF3R mutations and variants in myeloid neoplasms: associated phenotypes, co-mutations, and survival trends.

Bolarinwa A et al.

Haematologica, 2025

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single-Center Retrospective Study.

Yang J et al.

Cancer Medicine, 2025

Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies.

Elbaz Younes I et al.

Cancers, 2025

Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.

Maffei R et al.

Annals of Hematology, 2025

Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.

Kim SY et al.

Annals of Diagnostic Pathology, 2024

Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.

Szuber N et al.

American Journal of Hematology, 2024

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms.

Bochicchio MT et al.

International Journal of Molecular Sciences, 2023

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

Badar T et al.

Haematologica, 2023

Chronic neutrophilic leukemia preceded by myelodysplastic syndromes.

Baba Y et al.

International Journal of Hematology, 2023

CSF3R T618I Collaborates With RUNX1-RUNX1T1 to Expand Hematopoietic Progenitors and Sensitizes to GLI Inhibition.

Swoboda AS et al.

Hemasphere, 2023

37841755 (PubMed )
Supplement: hs9-7-e958-s003.pdf

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

Maniaci BN et al.

Haematologica, 2023

Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.

Pogozheva ID et al.

Biorxiv : the Preprint Server for Biology, 2023

Chronic neutrophilic leukemia associated with thrombocytosis and a CSF3R Q781* nonsense mutation.

Abdulbaki R et al.

International Journal of Laboratory Hematology, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

Co-Occurring CSF3R W791* Germline and Somatic T618I Driver Mutations Induce Early CNL and Clonal Progression to Mixed Phenotype Acute Leukemia.

Adam FC et al.

Current Oncology (toronto, Ont.), 2022

Chronic Neutrophilic Leukemia: A Comprehensive Review of Clinical Characteristics, Genetic Landscape and Management.

Thomopoulos TP et al.

Frontiers in Oncology, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Chronic Neutrophilic Leukemia: A Literature Review of the Rare Myeloproliferative Pathology.

Anil V et al.

Cureus, 2021

Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.

Trottier AM et al.

Blood Advances, 2020

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

Discovery and characterization of targetable NTRK point mutations in hematologic neoplasms.

Joshi SK et al.

Blood, 2020

Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.

Dao KT et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Inherited transmission of the CSF3R T618I mutational hotspot in familial chronic neutrophilic leukemia.

Duployez N et al.

Blood, 2019

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

CSF3R mutations were associated with an unfavorable prognosis in patients with acute myeloid leukemia with CEBPA double mutations.

Su L et al.

Annals of Hematology, 2019

Current and evolving understanding of atypical chronic myeloid leukemia.

Schwartz LC et al.

Blood Reviews, 2019

A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia.

Spiciarich DR et al.

Cancer Research, 2018

Chronic neutrophilic leukemia: 2018 update on diagnosis, molecular genetics and management.

Elliott MA et al.

American Journal of Hematology, 2018

Gain-of-function mutations in granulocyte colony-stimulating factor receptor (CSF3R) reveal distinct mechanisms of CSF3R activation.

Zhang H et al.

The Journal of Biological Chemistry, 2018

Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review.

Connelly JA et al.

Cold Spring Harbor Molecular Case Studies, 2018

Chronic neutrophilic leukemia: new science and new diagnostic criteria.

Szuber N et al.

Blood Cancer Journal, 2018

Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function.

Zhang H et al.

Cancer Research, 2017

Genomics of chronic neutrophilic leukemia.

Maxson JE et al.

Blood, 2017

Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Li S et al.

Nature Medicine, 2016

27322744 (PubMed )
Supplement: NIHMS786454-supplement-7.xlsx › Sheet1

CSF3R mutations have a high degree of overlap with CEBPA mutations in pediatric AML.

Maxson JE et al.

Blood, 2016

The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I.

Maxson JE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Mody RJ et al.

Jama, 2015

What's different about atypical CML and chronic neutrophilic leukemia?

Dao KH et al.

Hematology. American Society of Hematology. Education Program, 2015

Myeloproliferative neoplasms: JAK2 signaling pathway as a central target for therapy.

Pasquier F et al.

Clinical Lymphoma, Myeloma & Leukemia, 2014

An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms.

Tefferi A et al.

Leukemia, 2014

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Hong WJ et al.

Best Practice & Research. Clinical Haematology, 2014

Ligand independence of the T618I mutation in the colony-stimulating factor 3 receptor (CSF3R) protein results from loss of O-linked glycosylation and increased receptor dimerization.

Maxson JE et al.

The Journal of Biological Chemistry, 2014

Granulocyte colony-stimulating factor receptor mutations in myeloid malignancy.

Liongue C et al.

Frontiers in Oncology, 2014

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