Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.T618I
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CSF3R

NM_000760.4:p.T618I

Associated Papers

Loss of FBXO11 establishes a stem cell program in acute myeloid leukemia by dysregulating LONP1.

Kincross H et al.

The Journal of Clinical Investigation, 2026

41289019 (PubMed )
Supplement: jci-136-181943-s195.xlsx › Suppl_Table_1

Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.

Huh Y et al.

Annals of Laboratory Medicine, 2026

40619576 (PubMed )
Supplement: alm-46-1-104-supple1.xlsx › TableS3

Acute Myeloid Leukemia With a Non-Canonical FLT3 V491L Mutation: A Case Report With Ex Vivo FLT3 Inhibitors Sensitivity Testing.

Pospiech M et al.

Journal of Medical Cases, 2026

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

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

Bolarinwa A et al.

Haematologica, 2025

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

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

Yang J et al.

Cancer Medicine, 2025

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.

Majcherek M et al.

International Journal of Molecular Sciences, 2025

40806511 (PubMed )
Supplement: ijms-26-07382-s001.zip › ijms-3714525-supplementary.pdf

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Expanding the Spectrum of CSF3R-Mutated Myeloid Neoplasm Beyond Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia: A Comprehensive Analysis of 13 Cases.

Seth N et al.

Journal of Clinical Medicine, 2025

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM8_ESM.xlsx › Sheet1

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

CSF3R Mutations in Hematological Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation.

Cao J et al.

American Journal of Hematology, 2025

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Fifth edition WHO classification: myeloid neoplasms.

Chen X et al.

Journal of Clinical Pathology, 2025

Dual ASXL1 and CSF3R mutations drive myeloid-biased stem cell expansion and enhance neutrophil differentiation.

Darmusey L et al.

Blood Advances, 2025

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

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

Blastic plasmacytoid dendritic cell neoplasm secondary to acute myeloid leukemia with shared mutations in TET2 and DNMT3A: a case report and literature review.

Sun Y et al.

Frontiers in Immunology, 2025

CEBPA mutations in acute myeloid leukemia: implications in risk stratification and treatment.

Tien FM et al.

International Journal of Hematology, 2024

Hereditary chronic neutrophilic leukemia in a four-generation family without transformation to acute leukemia.

Lance A et al.

American Journal of Hematology, 2024

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

Research progress of additional pathogenic mutations in chronic neutrophilic leukemia.

Gao J et al.

Annals of Hematology, 2024

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

CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.

Mohamed A et al.

Human Pathology, 2024

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.

Orsmark-Pietras C et al.

Genes, Chromosomes & Cancer, 2024

Cytogenetics and genomics in CML and other myeloproliferative neoplasms.

Kreipe HH et al.

Best Practice & Research. Clinical Haematology, 2024

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

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

CSF3R P733T is a deleterious germline variant in acute leukaemia showing gain-of-function-like T618I mutation.

Sun H et al.

British Journal of Haematology, 2024

Antineoplastic effects of pharmacological inhibitors of aurora kinases in CSF3RT618I-driven cells.

Parducci NS et al.

Blood Cells, Molecules & Diseases, 2024

Germline CSF3R, RUNX1 and ETV6 Pathogenic Variants in a Case of Atypical Chronic Myeloid Leukemia: Individual to Familial Unravelling by Next Generation Sequencing.

Gupta A et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

CSF3R Gln776X and ASXL1 mutations in multiple myeloma associated with chronic neutrophilic leukemia: case report and literature review.

Han Y et al.

Archives of Medical Science : Ams, 2024

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

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

Bochicchio MT et al.

International Journal of Molecular Sciences, 2023

Chronic neutrophilic leukemia preceded by myelodysplastic syndromes.

Baba Y et al.

International Journal of Hematology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."