Rapid detection of DNMT3A R882 mutations in hematologic malignancies using a novel bead-based suspension assay with BNA(NC) probes.

Mutations in the human DNA methyl transferase 3A (DNMT3A) gene are recurrently identified in several hematologic malignancies such as Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), MPN/MDS overlap syndromes and acute myeloid leukemia (AML). They have been shown to confer worse prognosis in some of these entities. Notably, about 2/3 of these mutations are missense mutations in codon R882 of the gene.

Expression profiling of leukemia patients: key lessons and future directions.

Gene expression profiling (GEP) is a well-established indispensable tool used to study hematologic malignancies, including leukemias. Here, we summarize the insights into the molecular basis of leukemias obtained by means of GEP, focusing especially on acute myeloid leukemia (AML), one of the first diseases to be extensively studied by GEP. Profiling mRNA and microRNA expression are discussed in view of their applicability to class prediction, class discovery, and comparison, as well as outcome prediction, and special attention is paid to the recent advances in our understanding of the role of alternative RNA splicing in AML.

Novel multiplex bead-based assay for detection of IDH1 and IDH2 mutations in myeloid malignancies.

Isocitrate dehydrogenase 1 and 2 (IDH) mutations are frequently found in various cancer types such as gliomas, chondrosarcomas and myeloid malignancies. Their molecular detection has recently gained wide recognition in the diagnosis and prognosis of these neoplasms. For that purpose various molecular approaches have been used but a universally accepted method is still lacking.

DNMT3A mutation is a poor prognosis biomarker in AML: results of a meta-analysis of 4500 AML patients.

Somatic DNA methyl transferase 3A (DNMT3A) mutations have been recognized recently as recurrent molecular aberrations in acute myeloid leukemia (AML). The precise role of these mutations in leukemogenesis remains elusive but a number of studies have already been conducted to study their potential prognostic value in AML patients with variable results. We performed a meta-analysis on published data from over 4500 AML patients to provide robust evidence supporting DNMT3A mutation testing in clinical setting for AML patients.