St. Jude Research

CSF3R Database

Patient ID CSF3R mutation (cDNA) CSF3R mutation (Protein) Original patient ID Type of mutation Zygosity Year of reporting PMID Case also reported in (PMID) Presenting Symptoms Gender (M/F) Age at first presentation Age at Germline Highest WBC (neutrophils%) Organomegaly Heme malignancy developed? HSCT (yes/no/unknown) Status at Last follow up (alive, dead) Therapies Somatic mutations Notes
P001 c.1853C>T p.Thr618Ile index patient Missense Heterozygous 2016 27581359   Chronic neutrophilia, leukocytosis F Birth 10 years 37,100 (72%) splenomegaly No no alive none CSFR3 W791X  
P002 c.1853C>T p.Thr618Ile unpublished Missense Heterozygous unpublished     Chronic neutrophilia, leukocytosis F 13 months 14 months 98,000 (75%) hepatosplenomegaly No yes alive ruxolitinib none  
P003 c.1853C>T p.Thr618Ile II.4 Missense Heterozygous 2019 31697825   Chronic neutrophilia, leukocytosis F 9 years 9 years 24,000 (86%) splenomegaly No no alive none NRAS VUS  
P004 c.1853C>T p.Thr618Ile unpublished Missense Heterozygous unpublished     Chronic neutrophilia, leukocytosis M 10 years 33 years 332,000 (87%) hepatosplenomegaly No yes alive hydroxyurea, ruxolitinib none  
P005 c.1853C>T p.Thr618Ile II.1 Missense Heterozygous 2019 31697825   Chronic neutrophilia, leukocytosis M 18 years 18 years 38,000 (87%) splenomegaly No no alive ruxolitinib none  
P006 c.1853C>T p.Thr618Ile II.5 Missense Heterozygous 2024 38934467 4825608 Chronic neutrophilia, leukocytosis F birth 44 years 131,000 (93%) hepatosplenomegaly No no alive splenectomy, hydroxyurea, imatinib none  
P007 c.2372G>A p.Trp791X index patient Nonsense Heterozygous 2022 35200567   Chronic neutrophilia, leukocytosis M 33 years 33 years 53,000 (88%) splenomegaly Yes, MPAL yes alive hydroxyurea, ruxolitinib CSF3R T618I, ASXL C759fs, RUNX1 R201Q
P008 c.1853C>T p.Thr618Ile I.2 Missense Heterozygous 2019 31697825   Chronic neutrophilia, leukocytosis F 37 years 37 years 22,000 (84%) splenomegaly No no alive none NRAS VUS  
P009 c.1853C>A p.Thr618Asn 1 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 70 years 70 years 14,700 (75%) none No no alive none none originally annotated as T617N
P010 c.1853C>A p.Thr618Asn 2 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 80 years 80 years 15,900 (87%) splenomegaly No no alive none none originally annotated as T617N
P011 c.1853C>A p.Thr618Asn 4 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 46 years 46 years 27,100 (79%) splenomegaly No no alive none none originally annotated as T617N
P012 c.1853C>A p.Thr618Asn 5 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 40 years 40 years 29,100 (70%) none No no alive none none originally annotated as T617N
P013 c.1853C>A p.Thr618Asn 6 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 35 years 35 years 20,400 (77%) none No no alive none none originally annotated as T617N
P014 c.1853C>A p.Thr618Asn 7 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 45 years 45 years 27,600 (83%) splenomegaly No no alive none none originally annotated as T617N
P015 c.1853C>A p.Thr618Asn 9 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 46 years 45 years 27,600 (83%) none No no alive none none originally annotated as T617N
P016 c.1853C>A p.Thr618Asn 10 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 19 years 19 years 14,900 (65%) none No no alive none none originally annotated as T617N
P017 c.1853C>A p.Thr618Asn 12 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis F 13 years 13 years 20,600 (75%) none No no alive none none originally annotated as T617N
P018 c.1853C>A p.Thr618Asn 13 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 11 years 11 years 21,100 (68%) none No no alive none none originally annotated as T617N
P019 c.1853C>A p.Thr618Asn 14 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 8 years 8 years 21,600 (84%) none No no alive none none originally annotated as T617N
P020 c.1853C>A p.Thr618Asn 15 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 20 years 8 years 102,000 (95%) hepatosplenomegaly Yes, MDS unk alive MDS therapy del 3q26, EVI1-r originally annotated as T617N
P021 c.1853C>A p.Thr618Asn 16 Missense Heterozygous 2009 19620628   Chronic neutrophilia, leukocytosis M 11 years 11 years 30,400 (78%) splenomegaly No no alive none none originally annotated as T617N
P022 c.1853C>T p.Thr618Ile I.2 Missense Heterozygous 2024 38934467 4825608 Chronic neutrophilia, leukocytosis F 3.5 years 51 years 82,700 (91%) none No no dead Died due to heart failure at 51 (or 49?) due to mitral stenosis none  
P023 c.1853C>T p.Thr618Ile II.2 Missense Heterozygous 2024 38934467 4825608 Chronic neutrophilia, leukocytosis M birth 41 years 36,000 (90%) unknown No no dead Died due to heart failure at 41 none  
P024 c.1853C>T p.Thr618Ile III.2 Missense Heterozygous 2024 38934467 4825608 Chronic neutrophilia, leukocytosis F Birth 30 years NA unknown No no alive none none  
P025 c.1853C>T p.Thr618Ile IV.3 Missense Heterozygous 2024 38934467 4825608 Chronic neutrophilia, leukocytosis F Birth 4 years NA unknown No no alive none none  
P026 c.1828A>C p.Asn610His index patient Missense Heterozygous 2018 30348809   PMF, mild leukocytosis M NA Adult 15,300 (ANC unknown) unknown No no alive none ASXL1 Q1448Pfs*8