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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