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Biol Blood Marrow Transplant. 2019 Jun;25(6):1142-1151. doi: 10.1016/j.bbmt.2019.01.002. Epub 2019 Jan 6.

Impact of High-Molecular-Risk Mutations on Transplantation Outcomes in Patients with Myelofibrosis.

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Memorial Sloan Kettering Cancer Center, New York, New York.
Center for Clinical and Translational Science, Rockefeller University, New York, New York.
Mayo Clinic, Scottsdale, Arizona.
Princess Margaret Hospital Cancer Center, Toronto, Ontario, Canada.
Moffitt Cancer Center, Tampa, Florida.
Mount Sinai Medical Center, New York, New York.
University of Illinois Hospital & Health Sciences System and University of Illinois Cancer Center, Chicago, Illinois.
Memorial Sloan Kettering Cancer Center, New York, New York. Electronic address:


Mutational profiling has demonstrated utility in predicting the likelihood of disease progression in patients with myelofibrosis (MF). However, there is limited data regarding the prognostic utility of genetic profiling in MF patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HCT). We performed high-throughput sequencing of 585 genes on pre-transplant samples from 101 patients with MF who underwent allo-HCT and evaluated the association of mutations and clinical variables with transplantation outcomes. Overall survival (OS) at 5 years post-transplantation was 52%, and relapse-free survival (RFS) was 51.1 % for this cohort. Nonrelapse mortality (NRM) accounted for most deaths. Patient's age, donor's age, donor type, and Dynamic International Prognostic Scoring System score at diagnosis did not predict for outcomes. Mutations known to be associated with increased risk of disease progression, such as ASXL1, SRSF2, IDH1/2, EZH2, and TP53, did not impact OS or RFS. The presence of U2AF1 (P = .007) or DNMT3A (P = .034) mutations was associated with worse OS. A Mutation-Enhanced International Prognostic Scoring System 70 score was available for 80 patients (79%), and there were no differences in outcomes between patients with high risk scores and those with intermediate and low risk scores. Collectively, these data identify mutational predictors of outcome in MF patients undergoing allo-HCT. These genetic biomarkers in conjunction with clinical variables may have important utility in guiding transplantation decision making.


Molecular mutations; Myelofibrosis; Stem cell transplantation


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