Table 2 Clinical characteristics of TP53mut MDS and AML cohort.

From: Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort

Variables

Overall (n = 603)

Female/male

221 (36.7%)/382 (63.3%)

Age at MN diagnosis, median [IQR]

68.60 [62.00, 75.00]

Blood counts and marrow blast, median [IQR]

Hemoglobin, g/L

9.00 [7.90, 10.50]

WBC

3.00 [1.80, 5.10]

Platelets

55.00 [30.00, 106.00]

PB blasts %

1.00 [0.00, 7.00]

BM blasts %

8.90 [2.50, 27.25]

Disease phenotype (%)

AML

229 (38%)

MDS

374 (62%)

Cytogenetic changes, n (%)a

Complex karyotype

484 (80.7%)

Monosomal karyotype

437 (72.8%)

Deletion 5q

441 (73.9%)

Deletion 7q

306 (51.3%)

Deletion 17p

240 (40.2%)

TP53 mutation characteristics

TP53mut VAF (median, IQR)

36.80% (19.6, 59.0)

TP53mut VAF ≥ 2%

603 (100%)

TP53mut VAF ≥ 10%

520 (86.2%)

TP53mut VAF < 10%

83 (13.8%)

Somatic co-mutations on NGS, n (%)

TET2

66 (10.9%)

DNMT3A

63 (10.4%)

ASXL1

48 (8.0%)

SF3B1

33 (5.5%)

RUNX1

29 (4.8%)

SRSF2

29 (4.8%)

JAK2

27 (4.5%)

U2AF1

25 (4.1%)

RAS

20 (3.3%)

EZH2

16 (2.7%)

BCOR

15 (2.5%)

IDH2

12 (2.0%)

PTPN11

11 (1.8%)

CBL

7 (1.2%)

CEBPAb

7 (1.2%)

ZRSR2

6 (1.0%)

First line therapy n (%)c

Hypomethylating agents

214 (36.4%)

Venetoclax-based therapies

111 (18.9%)

Allogeneic stem cell transplantation

99 (16.4%)

Intensive chemotherapy

96 (16.3%)

Lenalidomide

20 (3.4%)

Erythropoietin/Erythroid differentiation agents

19 (3.2%)

Other therapies

9 (1.5%)

Supportive therapy

111 (18.9%)

  1. AML acute myeloid leukemia, BM bone marrow, MDS myelodysplastic syndrome, MN myeloid neoplasm, NGS next generation sequencing, PB peripheral blood, VAF variant allele frequency, WBC white blood cell.
  2. aCytogenetics data was not available in three patients.
  3. bCEBPA mutations were not screened for in five patients.
  4. cFirst-line treatment data were not available in 15 patients.