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Table 1 Clinical characteristics of patients with TET2 gene germline mutations

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

Patient No. Gender Diagnosis VAF Mutation type Mutation site Exon Karyotype MAF 1000 genome ExAC
Age (<=60 years)
1 M Neutropenia 0.5234 missense c.2604 T > G(p.Phe868Leu) 3 46,XY [20] 0.0024 0.0024 0.00233
2 F ? 0.5048 missense c.2604 T > G(p.Phe868Leu) 3 46,XY [20] 0.0024 0.0024 0.00233
3 F ? 0.493 missense c.455G > A(p.Ser152Asn) 3 NA NR NR NR
4 M MDS-U 0.5258 missense c.2604 T > G(p.Phe868Leu) 3 46,XX [20],+(8), UPD(11p) 0.0024 0.0024 0.00233
5 M ? 0.509 missense c.3116C > T(p.Ser1039Leu) 3 NA 0.0012 0.0012 0.00161
6 M CML 0.5416 missense c.2604 T > G(p.Phe868Leu) 3 NA 0.0024 0.0024 0.00233
7 F AA 0.5285 missense c.3116C > T(p.Ser1039Leu) 3 46,XX [20] 0.0012 0.0012 0.00161
8 M ? 0.4902 missense c.2604 T > G(p.Phe868Leu) 3 NA 0.0024 0.0024 0.00233
9 M HC 0.502 missense c.3116C > T(p.Ser1039Leu) 3 NA 0.0012 0.0012 0.00161
10 F AA 0.511 missense c.3116C > T(p.Ser1039Leu) 3 46,XY [20] 0.0012 0.0012 0.00161
11 F AML-M2 0.475 missense c.3728A > G(p.Lys1243Arg) 6 46,XX,t(8;21)(q22;q22) NR NR NR
12 F ? 0.4841 missense c.3116C > T(p.Ser1039Leu) 3 NA 0.0012 0.0012 0.00161
13 M AA 0.482 missense c.3106C > T(p.His1036Tyr) 3 46,XY [15] NR NR NR
14 F IDA 0.5224 missense c.2604 T > G(p.Phe868Leu) 3 46,XY [20] 0.0024 0.0024 0.00233
15 M MDS-U 0.5094 missense c.2604 T > G(p.Phe868Leu) 3 46,XY [20] 0.0024 0.0024 0.00233
16 F AML-M4 0.4867 missense c.2440C > T(p.Arg814Cys) 3 46,XY [20] 0.0014 0.0014 0.0006
17 F MDS-SLD 0.5023 missense c.5816A > G(p.Tyr1939Cys) 3 46,XX [20] NR NR NR
18 M ? 0.512 missense c.1712G > A(p.Arg571His) 3 NA NR NR 0.00003
19 M MDS-EB2 0.4984 missense c.2604 T > G(p.Phe868Leu 3 44 ~ 45,XY,-6,-7,+ 13,-17,-21,-22
+r,+ 3-, 4mar,inc[cp4]/46,XY [1]
0.0024 0.0024 0.00233
20 M MDS-SLD 0.5332 missense c.3116C > T(p.Ser1039Leu) 3 46,XY [20] 0.0012 0.0012 0.00161
21 F AML-M2 0.5253 missense c.2604 T > G(p.Phe868Leu) 3 46,XX, t(6;11)(q27;q23) [19]/46,xx [1] 0.0024 0.0024 0.00233
22 F MDS-EB2 0.5061 missense c.427G > A(p.Asp143Asn) 3 46,XX [20] NR NR 0.00003
Age (> 60 years)
23 F MDS-RA 0.5058 missense c.2440C > T(p.Arg814Cys) 3 46,XX [20] 0.0014 0.0014 0.0006
24 F MDS-SLD 0.4912 missense c.2440C > T(p.Arg814Cys) 3 47,XX,+add(1)(p11.2) [20] 0.0014 0.0014 0.0006
25 F AA 0.5078 missense c.2440C > T(p.Arg814Cys) 3 46,XY [20] 0.0014 0.0014 0.0006
26 F MDS-U 0.4835 missense c.218G > A(p.Arg73His) 3 46,XX,-20,+mar [20] NR NR 0.00001
27 M MDS-EB2 0.55 missense c.2604 T > G(p.Phe868Leu) 3 46,XY,der(7)t(1;7)
(q10;p10) [20]
0.0024 0.0024 0.00233
28 M MDS-MLD 0.5125 missense c.3116C > T(p.Ser1039Leu) 3 46,XX [20] 0.0012 0.0012 0.00161
29 M ? 0.4965 missense c.3116C > T(p.Ser1039Leu) 3 46,XY [20] 0.0012 0.0012 0.00161
30 M MDS-RAEB1 0.4845 missense c.4183G > A(p.Val1395Ile) 10 46 ~ 48,XY,+ 1,-5,del(5)
(q13q33),+ 8,-9,-18,-20,
+ 2 ~ 4mar1,+mar2[cp20]
NR NR NR
31 M MDS-RAEB2 0.5259 missense c.2604 T > G(p.Phe868Leu) 3 46,XX [20] 0.0024 0.0024 0.00233
32 M ITP 0.4985 missense c.3116C > T(p.Ser1039Leu) 3 46,XY [20] 0.0012 0.0012 0.00161
33 M ? 0.5002 missense c.2604 T > G(p.Phe868Leu) 3 46,XX [13] 0.0024 0.0024 0.00233
  1. Abbreviation: Patient No patient’s number; VAF variate allele frequency; MAF minor allele frequency; ExAC Exome Aggregation Consortium; M male; F female; HC hepatic cirrhosis; IDA iron deficiency anemia; NA no available; NR no report;?, undiagnosed; AML acute myeloid leukemia; MDS myelodysplastic syndrome; MDS-RA MDS with refractory anemia; MDS-SLD MDS with single lineage dysplasia; MDS-U MDS unclassifiable; MDS-RAEB1 MDS with refractory anemia and excess blast-1; MDS-RAEB-2 MDS with refractory anemia and excess blast-2; MDS-EB2 MDS with excess blast-2; (BM > 10–19% or PB 5–19%); MDS-MLD MDS with multilineage dysplasia; CML chronic myeloid leukemia; AA aplastic anemia