Table 1 Patients characteristics with GATA2 mutation.

From: Clinical and biological characteristics and prognostic impact of somatic GATA2 mutations in myeloid malignancies: a single institution experience

a. Characteristics and hematological features of patients with GATA2 mutation.

Variable

Value

 No. of patients

54

 Age years, median(range)

67 (26–89)

 Sex (male), n (%)

36 (67)

 Hemoglobin G/DL, median (range)

8.6 (5.8–13)

 Leukocytes 109/L, median (range)

12.9 (0.3–186)

 Thrombocytes 109/L, median (range)

53 (1.5–873)

 MCV median (range)

93 (77–119)

 ANC, median (range)

6.64 (0.17–96.7)

 AMC, median (range)

0.39 (0–44.5)

 ALC, median (range)

1.44 (0.37–38.8)

 RDW, median (range)

17.7 (13.1–26.8)

 Number of mutations, median (range)

4 (1–6)

Diagnosis

 MDS, n (%)

15 (27.7)

 MPN, n (%)

9 (16.6)

 AML, n (%)

14 (25.9)

 MDS/MPN, n (%)

16 (29.6)

Mutation types

 Missense, n (%)

18 (33.3)

 In-frame deletion, n (%)

18 (33.3)

 Frameshift, n (%)

12 (22.2)

 Non-sense, n (%)

4 (7.4)

 Duplication that span through splicing site, n (%)

2 (3.7)

Mutation location

 ZF1, n (%)

9 (17)

 ZF2, n (%)

31 (57)

 Non-ZF, n (%)

14 (26)

Abnormal cytogenetics

 Yes, n (%)

32 (63)

 No, n (%)

19 (37)

b. Summary of molecular findings according to GATA2 mutation location.

Location

ASXL1 co-mutations (%)

Mutation type (%)

Unique co-mutations

 ZF-1

 11

 Missense (78%), duplication that span through splicing site (22%)

 CEBPA, KIT, SF3B1, TET2

 ZF-2

 74

 In-frame deletion (58%), missense (35.5%), frameshift (6.5%)

 JAK2

 Non-ZF

 50

 Frameshift (71%), non-sense (29%)

 None

c. Summary of molecular findings according to the diagnostic groups.

Diagnosis

GATA2 mutation location (%)

Most frequent GATA2 mutation type (%)

Frequency of ASXL1 co-mutations (%)

Unique co-mutations

Patients with several GATA2 mutations (N)

 MDS

 ZF-1 (13%), ZF-2 (47%), Non-ZF (40)

 Frameshift (33%), missense (33%)

 47

 BCOR U2AF1

 1

 MPN

 ZF-1 (0%), ZF-2 (89%), Non-ZF (11%)

 In-frame deletion (67%)

 78

 CALR MPL JAK2

 2

 AML

 ZF-1 (43%), ZF-2 (36%), Non-ZF (21%)

 Missense (50%)

 14

 CEBPA KIT FLT3

 1

 MDS/MPN

 ZF-1 (6%), ZF-2 (69%), Non-ZF (25%)

 In-frame deletion (38%)

 94

 ASXL1 SETBP1 SRSF2

 4

  1. MCV mean corpuscular volume, ANC absolute neutrophil count, AMC absolute monocyte count, ALC absolute lymphocyte count, RDW red cell distribution width, MDS myelodysplasia neoplasm, AML acute myeloid leukemia, MPN Myeloproliferative neoplasms, MDS/MPN Myelodysplastic/Myeloproliferative neoplasms, ZF zing finger.
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