Table 1.
ICUS | NRXi w/o mutation | NRXi w/mutation | CHIP† | CCUS | Low risk MDS | High risk MDS | |
---|---|---|---|---|---|---|---|
Cytopenia(s) | + | − | − | − | + | + | + |
Dysplasia | − | − | − | − | − | +/− | + |
Molecular drivers | − | − | + | + | + | + | + |
Non-random X-inactivation | +/− | + | + | +/− | + | + | + |
Neoplastic transformation |
ICUS: idiopathic cytopenia of unknown significance; NRXi: non-random X-inactivation (determined by differentiating polymorphic alleles of HUMARA or G6PD genes on X chromosome); CHIP: clonal hematopoiesis of indeterminate potential; CCUS: clonal cytopenia of undetermined significance; MDS: myelodysplastic syndrome.
The vast majority of mutaWons associated with CHIP involve ASXL1, DNTM3A, or TET2.