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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