Table 2.

CH characteristics in various clinical contexts and selective pressures

Selective pressureClinical contextCH characteristicsFrequency (%)
Extrinsic/intrinsic Aging DNMT3A 
TET2 
ASXL1 
Extrinsic AA DNMT3A 
ASXL1 13 
BCOR 
PNH TET2 
SUZ12 
U2AF1 
ASXL1 
JAK2 
Chemotherapy TP53 
PPM1D 15 
Intrinsic DC Backmutation 11 
TERT promoter 
FA Gene conversion 
FANC point mutation Case reports 
FANC frameshift mutation Case reports 
SDS Isochromosome 7q 44 
Monosomy 7 13 
Deletion 20q 22 
TP53 48 
SCN CSF3R 12 
MIRAGE syndrome Deletion 7q 18 
UPD7q 20 
Selective pressureClinical contextCH characteristicsFrequency (%)
Extrinsic/intrinsic Aging DNMT3A 
TET2 
ASXL1 
Extrinsic AA DNMT3A 
ASXL1 13 
BCOR 
PNH TET2 
SUZ12 
U2AF1 
ASXL1 
JAK2 
Chemotherapy TP53 
PPM1D 15 
Intrinsic DC Backmutation 11 
TERT promoter 
FA Gene conversion 
FANC point mutation Case reports 
FANC frameshift mutation Case reports 
SDS Isochromosome 7q 44 
Monosomy 7 13 
Deletion 20q 22 
TP53 48 
SCN CSF3R 12 
MIRAGE syndrome Deletion 7q 18 
UPD7q 20 

DC, dyskeratosis congenita; SCN, severe congenital neutropenia.

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