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Leukemia
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Leukemia
Article . 2013 . Peer-reviewed
License: Springer TDM
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Leukemia
Article . 2013
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Mutations and prognosis in primary myelofibrosis

Authors: VANNUCCHI, ALESSANDRO MARIA; Lasho TL; GUGLIELMELLI, PAOLA; BIAMONTE, FLAVIA; Pardanani A; Pereira A; Finke C; +25 Authors

Mutations and prognosis in primary myelofibrosis

Abstract

Patient outcome in primary myelofibrosis (PMF) is significantly influenced by karyotype. We studied 879 PMF patients to determine the individual and combinatorial prognostic relevance of somatic mutations. Analysis was performed in 483 European patients and the seminal observations were validated in 396 Mayo Clinic patients. Samples from the European cohort, collected at time of diagnosis, were analyzed for mutations in ASXL1, SRSF2, EZH2, TET2, DNMT3A, CBL, IDH1, IDH2, MPL and JAK2. Of these, ASXL1, SRSF2 and EZH2 mutations inter-independently predicted shortened survival. However, only ASXL1 mutations (HR: 2.02; P<0.001) remained significant in the context of the International Prognostic Scoring System (IPSS). These observations were validated in the Mayo Clinic cohort where mutation and survival analyses were performed from time of referral. ASXL1, SRSF2 and EZH2 mutations were independently associated with poor survival, but only ASXL1 mutations held their prognostic relevance (HR: 1.4; P=0.04) independent of the Dynamic IPSS (DIPSS)-plus model, which incorporates cytogenetic risk. In the European cohort, leukemia-free survival was negatively affected by IDH1/2, SRSF2 and ASXL1 mutations and in the Mayo cohort by IDH1 and SRSF2 mutations. Mutational profiling for ASXL1, EZH2, SRSF2 and IDH identifies PMF patients who are at risk for premature death or leukemic transformation.

Countries
United Kingdom, Italy
Keywords

Adult, Male, Adolescent, 610, Cohort Studies, myelofibrosis, prognosis, mutations, ASXL1, prognostic score, Mutation Rate, Cluster Analysis, Humans, Aged, Aged, 80 and over, Gene Expression Profiling, Nuclear Proteins, Middle Aged, Prognosis, mutation; myelofibrosis, Isocitrate Dehydrogenase, Repressor Proteins, Ribonucleoproteins, Primary Myelofibrosis, Mutation, Female, Follow-Up Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
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693
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492
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