Molecular Genetics Can Predict HCT Outcomes in Myelofibrosis

Three frequently mutated genes in patients with myelofibrosis ─ CALR, IDH2, and ASXL1 ─ can predict allogeneic hematopoietic cell transplantation (HCT) outcomes independently from known disease-related clinical risk factors.

Researchers screened for mutations in 16 frequently mutated genes in 169 patients with myelofibrosis.

In all patients, the cumulative 1-year incidence of non-relapse mortality (NRM) was 21%, and 5-year incidence of relapse was 25%. Five-year progression-free survival (PFS) and overall survival (OS) were 48% and 56%, respectively.

In a multivariate analysis, ASXL1 and IDH2 mutations were independent risk factors for lower PFS (HR 1.53, p=0.008 and HR 5.451, p=0.002, respectively). CALR mutation was an independent factor for lower NRM (HR 0.415, p=0.05), improved PFS (HR 0.393, p=0.01), and OS (HR 0.448, p=0.03).

Results indicate that distinct mutations and combinations of mutations can be useful and independently predictive of other prognostic factors such as risk score, age and performance status on the outcome after allogeneic HCT in patients with myelofibrosis.

Kröger N, et al. Biol Blood Marrow Transplant