Groarke et al reported factors associated with clonal evolution in a patient with severe aplastic anemia receiving immunosuppressive therapy. A patient with clonal evolution is at high-risk progression to a myeloid neoplasm. The authors are from the National Institutes of Health.
Patient selection: severe aplastic anemia, status post immunosuppressive therapy
High-risk clonal evolution - one or more of the following:
(1) overt myeloid neoplasm (dysplasia, myeloproliferative neoplasm, AML)
(2) isolated chromosome 7 monosomy
(3) complex karyotype
A patient with high-risk evolution has a 5-year overall survival of 37% (vs 94% for low-risk)
Predictors of high-risk evolution:
(1) pretreatment age > 48 years
(2) pretreatment absolute neutrophil count > 870 per microliter
(3) detection of one or more of the following at 6 months after starting immunosuppressive therapy:
(3a) somatic variants of splicing factors
(3b) somatic variants of RUNX1
(3c) ASXL1 mutation
For patients at high-risk for clonal evolution, hematopoietic stem cell transplantation improved overall survival.
