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Table 4 Sequential studies in MDS patients with DNMT3A mutations at diagnosis and/or at follow-ups

From: Dynamics of DNMT3A mutation and prognostic relevance in patients with primary myelodysplastic syndrome

UPN

Time from diagnosis

Status

Chromosome change

DNMT3A mutation (VAF, %)

Other mutations (VAF, %)

1

0 month

MDS-EB2

N

R882H (41.3)

NRAS (38.4), RUNX1 (39), SF3B1 (38.8)

6.5 months

AML

ND

R882H (28.5)

NRAS (29.1), RUNX1 (26.7), SF3B1 (28.3)

5

0 month

MDS-EB2

N

R882H (25.2)

CEBPA (23.5)

5 months

AML

N

R882H (41.8)

CEBPA (38.3)

7

0 month

MDS-EB2

N

R882H (34.2)

RUNX1 (30.3), IDH2 (32.8), SF3B1 (32.5)

9 months

AML (s/p C/T)

N

R882H (27.4)

RUNX1 (28.6), IDH2 (27.6), SF3B1 (28.3)

10

0 month

MDS-EB1

N

L723TfsX56 (17.1), 1554+1G>T (17)

U2AF1 (16.5), RUNX1 (9.8)

7 months

MDS-EB1

N

L723TfsX56 (6.3), 1554+1G>T (6.3)

U2AF1 (6.4), RUNX1 (3.6)

13

0 month

MDS-EB1

N

R882H (12.4)

MLL-PTD

7 months

AML

+ 8

R882H (20.9)

MLL-PTD

9 months

s/p C/T in CR

N

R882H*

MLL-PTD

17

0 month

RAEB-T

N

R882H (35.3)

IDH2 (7.6), NPM1 (39.5)

19.5 months

s/p allo-HSCT

N

–

–

21

0 month

RARS

N

Y735C (34.5)

SF3B1 (44.4), TET2 (42.3)

34 months

RARS

N

Y735C (31.1)

SF3B1 (44), TET2 (44.3)

23

0 month

RA

N

W313X (45.24), W860R (45.55)

ASXL1 (35.12), IDH2 (48.19)

3.5 months

CMML

N

W313X (47.74), W860R (44.6)

ASXL1 (33.31), IDH2 (45.29)

24

0 month

MDS-EB1

inv(9)(p11q12)

R882H (8.4)

NPM1 (7)

7.5 months

AML

inv(9)(p11q12)

R882H(33.8)

NPM1 (31.3)

12 months

s/p C/T

inv(9)(p11q12)

–

–

20 months

s/p allo-HSCT

ND

–

–

27

0 month

RARS

N

L508SfsX143 (41.1)

SF3B1 (39.9), TET2 (42.6)

43.5 months

RARS

N

L508SfsX143 (39.9)

SF3B1 (39.2), TET2 (41.2)

30

0 month

MDS-EB2

− 7

R882C (30.5)

U2AF1 (29.2)

13.5 months

s/p allo-HSCT

N

–

–

36

0 month

MDS-EB1

der(7)t(1;7)(q12;q11),+ 21

R882C (25.4)

–

9.5 months

MDS-EB2

der(7)t(1;7)(q12;q11),+ 21

R882C (19)

–

13.5 months

s/p allo-HSCT

N

–

–

37

0 month

RARS

N

R882H (38.2)

SF3B1 (38.2), TET2 (41.7)

7 months

AML

N

R882H (43.4)

RUNX1 (21.6), SF3B1 (43), TET2 (45.9)

47

0 month

MDS-EB1

N

–**

–

19 months

MDS-EB1

N

N838D (39.7)

GNAS (36.5), ASXL1 (17.3), ASXL1 (9), ZRSR2 (6)

  1. The data of patients who were sequentially studied but had no DNMT3A mutation at both diagnosis and follow-ups are not shown
  2. Abbreviations: UPN unique patient number; −, negative; +, positive; RA, refractory anemia; RARS, refractory anemia with ring sideroblasts; RAEB, refractory anemia with excess blasts; RAEB-T, refractory anemia with excess blasts in transformation; CMML, chronic myelomonocytic leukemia; MDS-EB1, MDS with excess blasts-1; MDS-EB2, MDS with excess blasts-2, s/p, status post; allo-HSCT, allogeneic-hematopoietic stem cell transplantation; AML, acute myeloid leukemia; C/T, chemotherapy; N, normal karyotype; ND, no data; PTD, partial tandem duplication; VAF, variant allele frequency
  3. *In this sample, DNMT3A mutation was not detected by direct sequencing, but 1 of 23 clones showed DNMT3A mutation by TA cloning technique. The disease of this patient relapsed at the 10th month from diagnosis (BM blast 31.6%), and he died of AML at 14th month from diagnosis
  4. **No DNMT3A mutation was detected by either direct sequencing or TA cloning procedure in this case
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Clinical Epigenetics

ISSN: 1868-7083

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