Table 1.

Commonly altered pathways in ML-DS

Gene/clusterFrequency (Klusmann)21 Frequency (Ogawa)22 
GATA1 100% 100% 
Chromatin configuration  47% 65% 
STAG2, RAD21, SMC1A, SMC3, NIPBL, CTCF   
Signaling 50% 35%  
JAK1, JAK2, JAK3, MPL, KIT, SH2B3   
Epigenetic 36% 41% 
EZH2, SUZ12, KANSL1   
RAS family 14%  16% 
NRAS, KRAS, NF1, PTPN11   
CSF2Rβ 4.7% ND§  
Gene/clusterFrequency (Klusmann)21 Frequency (Ogawa)22 
GATA1 100% 100% 
Chromatin configuration  47% 65% 
STAG2, RAD21, SMC1A, SMC3, NIPBL, CTCF   
Signaling 50% 35%  
JAK1, JAK2, JAK3, MPL, KIT, SH2B3   
Epigenetic 36% 41% 
EZH2, SUZ12, KANSL1   
RAS family 14%  16% 
NRAS, KRAS, NF1, PTPN11   
CSF2Rβ 4.7% ND§  

Percentage of cases with at least 1 mutation of genes in the cluster.

KIT mutations were not reported.

PTPN11 mutations were not reported.

§

CSF2Rβ mutations were not reported.

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