Table 2 Recurrent germline GATA2 ZF2 mutations and their association with myeloid malignancy subtypes

From: Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes

Mutation

Myeloid malignancy subtypes

 

aCML/CMML

MDS

AML

Total a

P-valueb

gT354M

1 (2%)c

19 (38%)

30 (60%)

50

 

gR396Q

0

14 (78%)

4 (22%)

18

<0.001

gR398W

4 (33%)d

6 (50%)

2 (17%)

12

 
    

80

 
  1. Abbreviations: AML, acute myeloid leukemia; aCML, atypical chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; MDS, myelodysplastic syndrome.
  2. aUnaffected individuals (n=11) or individuals with ID syndrome alone (n=7) were excluded from statistical analysis.
  3. b3 × 3 Fisher’s exact probability test (two-tailed test) for GATA2 mutants, aCML/CMML, MDS and AML.
  4. caCML.
  5. dCMML (unique for gR398W). Predominant phenotype (bold).
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