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Table 4 Clinical characteristics of patients with germline and somatic TET2 mutations

From: Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

Patient’s parameters Statue of TET2 mutation P
Germline mutation(n = 33) Somatic mutation(n = 67)  
Age(Y)median(range) 48(16–82) 66(24–89) 0.0058
Male (%) 18(54.5%) 44(65.7%) 0.381
VAF (%) median(range) 50.6(40.5–55) 44.1(6.14–95.9) < 0.0001
Cytogenetics (%)    0.421
 Normal or -Y alone 18(54.5%) 47(70.1%)  
 Complex 2(6.1%) 4(6%)  
 Others 6(18.2%) 9(13.4%)  
 Unknown 7(21.2%) 7(10.4%)  
Diagnosis (n)    0.0004
 MDS 13(39.4%) 18(26.9%)  
 AML 3(9.1%) 26(38.8%)  
 AA 4(12.1%) 1(1.5%)  
 MDS/MPN 0(0%) 10(13.4%)  
 Others 13(39.4%) 12(19.4%)  
Peripheral blood median(range)
 Haemoglobin (g/L) 74(27–160) 81(37–135) 0.2613
 WBC (×109/L) 4.4(0.23–33.38) 7.33(0.97–237.29) 0.0046
 Platelet (× 109/L) 57.5(3–611) 59(6–1085) 0.533
 Absolute Neutrophils (×109/L) 1.58(0–25.37) 1.89(0.06–92.99) 0.5216
 Absolute Lymphocyte (×109/L) 1.33(0.2–3) 1.63(0.27–12.52) 0.0848
 Absolute Monocyte (×109/L) 0.24(0–0.83) 0.25(0–10.64) 0.4235
Bone marrow (%) median(range)
 Myeloblast 2(0.5–15.5) 7.25(0.5–86) 0.0028
 Basophilic Erythroblast 1.5(0.5–5) 1.5(0.5–9) 0.9502
 Polychromatophilic erythroblast 8.5(1.5–25.5) 6.5(0.5–36) 0.2890
 Acidophilic Erythroblast 16.5(2.5–51.5) 10.75(0.5–48.5) 0.1005
 Mature Monocyte 1.5(0.5–21) 3(0.5–12) 0.0799
 Mature Lymphocyte 16(5–70) 6.5(0.5–42.5) < 0.0001
 Total Eosinophils 2(0.5–10.5) 1(0.5–9) 0.0247
 ESG 1.5(0.5–5) 0.5(0.5–3) 0.0083
Mutate gene(n)
CEBPA (+/−) 1/32(3.0%) 11/56(16.4%) 0.0973
 FLT3 (+/−) 1/32(3.0%) 6/61(9.0%) 0.4202
NPM1 (+/−) 0/33(0.00%) 11/56(16.4%) 0.0144
RUNX1 (+/−) 2/31(6.1%) 10/57(14.9%) 0.3273
ASXL1 (+/−) 1/32(3.0%) 16/51(23.9%) 0.0096
 TP53(+/−) 6/26(18.18%) 6/61(9.0%) 0.2027
DNMT3A (+/−) 1/32(3.0%) 12/55(17.9%) 0.0551
 ZRSR2 (+/−) 6/28(18.18%) 11/56(16.42%) > 0.999
 SF3B1 (+/−) 1/32(3.0%) 8/59(11.9%) 0.2646
 SRSF2 (+/−) 0/33(0.0%) 6/61(9.0%) 0.1739
  1. Aberration: Age (Y), Age (year); n, number of patients; VAF, variate allele frequency; ESG, Eosinophilic segmented granulocytes; P value less than 0.05 indicates statistical significance