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Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.
An international panel to provide updated evidence- and expert opinion-based recommendations for diagnosis and management of acute myeloid leukemia in adults includes a revised version of the ELN genetic categories, a proposal for a response category based on MRD status, and criteria for progressive disease.
Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation.
The landscape of somatic copy-number alteration across human cancers
It is demonstrated that cancer cells containing amplifications surrounding the MCL1 and BCL2L1 anti-apoptotic genes depend on the expression of these genes for survival, and a large majority of SCNAs identified in individual cancer types are present in several cancer types.
Clinical effect of point mutations in myelodysplastic syndromes.
Mutations in TP53, EZH2, ETV6, RUNX1, and ASXL1 are predictors of poor overall survival in patients with myelodysplastic syndromes, independently of established risk factors.
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
Genetic predictors of outcome that improved risk stratification among patients with AML, independently of age, white-cell count, induction dose, and post-remission therapy, are identified and the significance of these predictors in an independent cohort is validated.
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia
Activation of JAK-STAT signaling via MPLW515L is an important pathogenetic event in patients with JAK2V617F-negative MF, including extramedullary hematopoiesis, splenomegaly, and megakaryocytic proliferation.
The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.
IDH mutation impairs histone demethylation and results in a block to cell differentiation
It is reported that 2HG-producing IDH mutants can prevent the histone demethylation that is required for lineage-specific progenitor cells to differentiate into terminally differentiated cells, and that inhibition of histone methylation can be sufficient to block the differentiation of non-transformed cells.
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Four somatic gain-of-function mutations affecting JAK2 exon 12 define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis.