Myeloid malignancies: mutations, models and management

Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes

(2012) F. Damm et al.   BLOOD

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

(2012) F. Thol et al.   BLOOD

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

(2012) H. Makishima et al.   BLOOD

Mutation analysis ofASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12,andTET2in myeloproliferative neoplasms

(2012) Mandy Brecqueville et al.   GENES CHROMOSOMES & CANCER

Lethal myelofibrosis induced byBmi1-deficient hematopoietic cells unveils a tumor suppressor function of the polycomb group genes

(2012) Hideyuki Oguro et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases

(2012) Véronique Gelsi-Boyer et al.   Journal of Hematology & Oncology

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

(2012) Jeremy Schwartzentruber et al.   NATURE

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

(2012) Li Ding et al.   NATURE

Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia

(2012) Panagiotis Ntziachristos et al.   NATURE MEDICINE

A Double-Blind, Placebo-Controlled Trial of Ruxolitinib for Myelofibrosis

(2012) Srdan Verstovsek et al.   NEW ENGLAND JOURNAL OF MEDICINE

JAK Inhibition with Ruxolitinib versus Best Available Therapy for Myelofibrosis

(2012) Claire Harrison et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Clinical Applications of Epigenetic Markers and Epigenetic Profiling in Myeloid Malignancies

(2012) Michael A. McDevitt   SEMINARS IN ONCOLOGY

Mutational Determinants of Epigenetic Instablity in Myeloid Malignancies

(2012) Anna M. Jankowska et al.   SEMINARS IN ONCOLOGY

Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A

(2011) A. M. Jankowska et al.   BLOOD

Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia

(2011) Y. Shen et al.   BLOOD

Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia

(2011) M. Li et al.   BLOOD

CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

(2011) H. Makishima et al.   BLOOD

New mutations and pathogenesis of myeloproliferative neoplasms

(2011) W. Vainchenker et al.   BLOOD

Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms

(2011) J. Score et al.   BLOOD

Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression

(2011) T. Klampfl et al.   BLOOD

Managing resistance in chronic myeloid leukemia

(2011) Sameek Roychowdhury et al.   BLOOD REVIEWS

TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis

(2011) Cyril Quivoron et al.   CANCER CELL

Tet2 Loss Leads to Increased Hematopoietic Stem Cell Self-Renewal and Myeloid Transformation

(2011) Kelly Moran-Crusio et al.   CANCER CELL

TET Family Proteins and Their Role in Stem Cell Differentiation and Transformation

(2011) Luisa Cimmino et al.   Cell Stem Cell

Targeting myeloproliferative neoplasms with JAK inhibitors

(2011) Animesh Pardanani et al.   CURRENT OPINION IN HEMATOLOGY

Biological validation that SF3b is a target of the antitumor macrolide pladienolide

(2011) Akira Yokoi et al.   FEBS Journal

Transcriptional and epigenetic networks in haematological malignancy

(2011) Ngai Cheung et al.   FEBS LETTERS

ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events

(2011) Claudia Haferlach et al.   GENES CHROMOSOMES & CANCER

JAK2V617F/TET2 mutations: does the order matter?

(2011) E. Pronier et al.   HAEMATOLOGICA

Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes

(2011) B. L. Stein et al.   HAEMATOLOGICA

Transcription intermediary factor 1γ is a tumor suppressor in mouse and human chronic myelomonocytic leukemia

(2011) Romain Aucagne et al.   JOURNAL OF CLINICAL INVESTIGATION

Prognostic Significance of ASXL1 Mutations in Patients With Myelodysplastic Syndromes

(2011) Felicitas Thol et al.   JOURNAL OF CLINICAL ONCOLOGY

Unraveling the Molecular Pathophysiology of Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   JOURNAL OF CLINICAL ONCOLOGY

Molecular Genetics of Adult Acute Myeloid Leukemia: Prognostic and Therapeutic Implications

(2011) Guido Marcucci et al.   JOURNAL OF CLINICAL ONCOLOGY

Incidence and Prognostic Influence of DNMT3A Mutations in Acute Myeloid Leukemia

(2011) Felicitas Thol et al.   JOURNAL OF CLINICAL ONCOLOGY

TET2Mutations Improve the New European LeukemiaNet Risk Classification of Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study

(2011) Klaus H. Metzeler et al.   JOURNAL OF CLINICAL ONCOLOGY

Current findings for recurring mutations in acute myeloid leukemia

(2011) Shinichiro Takahashi   Journal of Hematology & Oncology

Mutation analysis of TET2, IDH1, IDH2 and ASXL1 in chronic myeloid leukemia

(2011) C Roche-Lestienne et al.   LEUKEMIA

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

(2011) P A Greif et al.   LEUKEMIA

SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients

(2011) T L Lasho et al.   LEUKEMIA

Prognostic implications and molecular associations of NADH dehydrogenase subunit 4 (ND4) mutations in acute myeloid leukemia

(2011) F Damm et al.   LEUKEMIA

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

(2011) V Visconte et al.   LEUKEMIA

Deletion of the tumor-suppressor gene NF1 occurs in 5% of myeloid malignancies and is accompanied by a mutation in the remaining allele in half of the cases

(2011) C Haferlach et al.   LEUKEMIA

Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias

(2011) R Itzykson et al.   LEUKEMIA

Mutations galore in myeloproliferative neoplasms: Would the real Spartacus please stand up?

(2011) A Tefferi   LEUKEMIA

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

(2011) Ignacio Varela et al.   NATURE

TET1 and hydroxymethylcytosine in transcription and DNA methylation fidelity

(2011) Kristine Williams et al.   NATURE

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Dynamic regulation of 5-hydroxymethylcytosine in mouse ES cells and during differentiation

(2011) Gabriella Ficz et al.   NATURE

Dual functions of Tet1 in transcriptional regulation in mouse embryonic stem cells

(2011) Hao Wu et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

Dnmt3a is essential for hematopoietic stem cell differentiation

(2011) Grant A Challen et al.   NATURE GENETICS

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

(2011) Xiao-Jing Yan et al.   NATURE GENETICS

Reciprocal repression between P53 and TCTP

(2011) Robert Amson et al.   NATURE MEDICINE

Harnessing synthetic lethal interactions in anticancer drug discovery

(2011) Denise A. Chan et al.   NATURE REVIEWS DRUG DISCOVERY

Silencing chromatin: comparing modes and mechanisms

(2011) Christian Beisel et al.   NATURE REVIEWS GENETICS

Point Mutations in Myelodysplastic Syndromes

(2011)   NEW ENGLAND JOURNAL OF MEDICINE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   NEW ENGLAND JOURNAL OF MEDICINE

DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors

(2011) Y. Jiao et al.   SCIENCE

The Leukemogenicity of AML1-ETO Is Dependent on Site-Specific Lysine Acetylation

(2011) L. Wang et al.   SCIENCE

Tet Proteins Can Convert 5-Methylcytosine to 5-Formylcytosine and 5-Carboxylcytosine

(2011) S. Ito et al.   SCIENCE

Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes

(2011) M Brecqueville et al.   Blood Cancer Journal

Alteration of cohesin genes in myeloid diseases

(2010) Julien Rocquain et al.   AMERICAN JOURNAL OF HEMATOLOGY

Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission

(2010) O. Nibourel et al.   BLOOD

Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations

(2010) W.-C. Chou et al.   BLOOD

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

(2010) Julien Rocquain et al.   BMC CANCER

ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia

(2010) Véronique Gelsi-Boyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation

(2010) Maria E. Figueroa et al.   CANCER CELL

DNA Methylation Signatures Identify Biologically Distinct Subtypes in Acute Myeloid Leukemia

(2010) Maria E. Figueroa et al.   CANCER CELL

NF1 Inactivation in Adult Acute Myelogenous Leukemia

(2010) B. Parkin et al.   CLINICAL CANCER RESEARCH

Impact of TET2 mutations on mRNA expression and clinical outcomes in MDS patients treated with DNA methyltransferase inhibitors

(2010) Daniel A. Pollyea et al.   HEMATOLOGICAL ONCOLOGY

Clinical Utility of Microarray-Based Gene Expression Profiling in the Diagnosis and Subclassification of Leukemia: Report From the International Microarray Innovations in Leukemia Study Group

(2010) Torsten Haferlach et al.   JOURNAL OF CLINICAL ONCOLOGY

Haplo-insufficiency: a driving force in cancer

(2010) Alice H Berger et al.   JOURNAL OF PATHOLOGY

Gain of CBL-interacting protein, a possible alternative to CBL mutations in myeloid malignancies

(2010) J Adélaïde et al.   LEUKEMIA

Myelodysplastic syndromes: lost between two states?

(2010) C Acquaviva et al.   LEUKEMIA

LNK mutation studies in blast-phase myeloproliferative neoplasms and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations

(2010) A Pardanani et al.   LEUKEMIA

PHF6 mutations in adult acute myeloid leukemia

(2010) P Van Vlierberghe et al.   LEUKEMIA

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

(2010) J Boultwood et al.   LEUKEMIA

Erratum: Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2010) Lenny Dang et al.   NATURE

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

(2010) Gillian L. Dalgliesh et al.   NATURE

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Array-based genomic resequencing of human leukemia

(2010) Y Yamashita et al.   ONCOGENE

Regulation of Alternative Splicing by Histone Modifications

(2010) R. F. Luco et al.   SCIENCE

In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm

(2009) J. R. Lambert et al.   BLOOD

TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs)

(2009) O. Kosmider et al.   BLOOD

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms

(2009) F. H. Grand et al.   BLOOD

Mutations of polycomb-associated geneASXL1in myelodysplastic syndromes and chronic myelomonocytic leukaemia

(2009) Véronique Gelsi-Boyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies

(2009) Hideki Makishima 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

JAK2 phosphorylates histone H3Y41 and excludes HP1α from chromatin

(2009) Mark A. Dawson et al.   NATURE

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

(2009) Gijs van Haaften et al.   NATURE GENETICS

In Brief

(2009)   NATURE REVIEWS NEUROSCIENCE

Mutation inTET2in Myeloid Cancers

(2009) François Delhommeau et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

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

Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1

(2009) M. Tahiliani et al.   SCIENCE

Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F

(2008) F. X. Schaub et al.   BLOOD

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes

(2008) Véronique Gelsi-Boyer et al.   BMC CANCER

250K Single Nucleotide Polymorphism Array Karyotyping Identifies Acquired Uniparental Disomy and Homozygous Mutations, Including Novel Missense Substitutions of c-Cbl, in Myeloid Malignancies

(2008) A. J. Dunbar et al.   CANCER RESEARCH

Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias

(2008) S. Abbas et al.   HAEMATOLOGICA

Alterations of NFIA in chronic malignant myeloid diseases

(2008) F Bernard et al.   LEUKEMIA

CTCF Regulates Allelic Expression of Igf2 by Orchestrating a Promoter-Polycomb Repressive Complex 2 Intrachromosomal Loop

(2008) T. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE