Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms

Acute Myeloid Leukemia

(2017) Margaret R. O'Donnell et al.   Journal of the National Comprehensive Cancer Network

Acute Myeloid Leukemia Genetics: Risk Stratification and Implications for Therapy

(2015) Michael L. Wang et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Leukemia diagnosis: today and tomorrow

(2015) Marie C. Béné et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

The diagnostic and clinical impact of genetics and epigenetics in acute myeloid leukemia

(2015) R. S. Ohgami et al.   International Journal of Laboratory Hematology

Amplicon Indel Hunter Is a Novel Bioinformatics Tool to Detect Large Somatic Insertion/Deletion Mutations in Amplicon-Based Next-Generation Sequencing Data

(2015) Sabah Kadri et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genomon ITDetector: a tool for somatic internal tandem duplication detection from cancer genome sequencing data

(2014) Kenichi Chiba et al.   BIOINFORMATICS

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Genetic mutations in acute myeloid leukemia that influence clinical decisions

(2014) Stephen S. Chung   CURRENT OPINION IN HEMATOLOGY

Why methylation is not a marker predictive of response to hypomethylating agents

(2014) M. T. Voso et al.   HAEMATOLOGICA

Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol

(2014) N. Bolli et al.   HAEMATOLOGICA

Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients

(2014) R Kihara et al.   LEUKEMIA

Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1 and TET2 mutations

(2014) Robert S Ohgami et al.   MODERN PATHOLOGY

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia

(2014) Terrence N. Wong et al.   NATURE

Epigenetic targeting and personalized approaches for AML

(2014) G. J. Roboz   Hematology-American Society of Hematology Education Program

Phase I Study of Quizartinib Administered Daily to Patients With Relapsed or Refractory Acute Myeloid Leukemia Irrespective of FMS-Like Tyrosine Kinase 3–Internal Tandem Duplication Status

(2013) Jorge E. Cortes et al.   JOURNAL OF CLINICAL ONCOLOGY

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Targeted Inhibition of Mutant IDH2 in Leukemia Cells Induces Cellular Differentiation

(2013) F. Wang et al.   SCIENCE

FLT3 mutations in acute myeloid leukemia: what is the best approach in 2013?

(2013) M. Levis   Hematology-American Society of Hematology Education Program

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data

(2012) David H. Spencer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

FLT3 inhibition: a moving and evolving target in acute myeloid leukaemia

(2012) A Y H Leung et al.   LEUKEMIA

Clonal Architecture of Secondary Acute Myeloid Leukemia

(2012) Matthew J. Walter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia

(2012) Jay P. Patel et al.   NEW ENGLAND JOURNAL OF MEDICINE

TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome

(2011) F. G. Rucker et al.   BLOOD

DNMT3A mutations and response to the hypomethylating agent decitabine in acute myeloid leukemia

(2011) K H Metzeler et al.   LEUKEMIA

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity

(2010) E. Taskesen et al.   BLOOD

Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials

(2010) D. Grimwade et al.   BLOOD

Prognostic Significance ofCEBPAMutations in a Large Cohort of Younger Adult Patients With Acute Myeloid Leukemia: Impact of DoubleCEBPAMutations and the Interaction WithFLT3andNPM1Mutations

(2010) Claire L. Green et al.   JOURNAL OF CLINICAL ONCOLOGY

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet

(2009) H. Dohner et al.   BLOOD

Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome

(2009) B. J. Wouters et al.   BLOOD

Acute Myeloid Leukemia With Biallelic CEBPA Gene Mutations and Normal Karyotype Represents a Distinct Genetic Entity Associated With a Favorable Clinical Outcome

(2009) Annika Dufour et al.   JOURNAL OF CLINICAL ONCOLOGY

Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias

(2009) N Carbuccia et al.   LEUKEMIA

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

(2009) Elaine R. Mardis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype

(2008) C Haferlach et al.   LEUKEMIA

Cooperating gene mutations in acute myeloid leukemia: a review of the literature

(2008) A Renneville et al.   LEUKEMIA

Mutations and Treatment Outcome in Cytogenetically Normal Acute Myeloid Leukemia

(2008) Richard F. Schlenk et al.   NEW ENGLAND JOURNAL OF MEDICINE