Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1

The prognostic IDH1 R132 mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma

(2010) Fonnet E. Bleeker et al.   ACTA NEUROPATHOLOGICA

Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms

(2010) F. X. Schaub et al.   BLOOD

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

Genetic Analysis of Transforming Events That Convert Chronic Myeloproliferative Neoplasms to Leukemias

(2010) O. Abdel-Wahab et al.   CANCER RESEARCH

The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations

(2010) K. Paulsson et al.   HUMAN MOLECULAR GENETICS

Segregation of non-p.R132H mutations inIDH1in distinct molecular subtypes of glioma

(2010) Lonneke A.M. Gravendeel et al.   HUMAN MUTATION

Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations

(2010) Stefan Gross et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Somatic Mutations ofIDH1andIDH2in the Leukemic Transformation of Myeloproliferative Neoplasms

(2010) Anthony Green et al.   NEW ENGLAND JOURNAL OF MEDICINE

Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas

(2009) Christian Hartmann et al.   ACTA NEUROPATHOLOGICA

JAK redux: a second look at the regulation and role of JAKs in the heart

(2009) Mazen Kurdi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies

(2009) O. Abdel-Wahab et al.   BLOOD

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

Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele

(2009) P. Guglielmelli et al.   BLOOD

Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor

(2009) C. Pecquet et al.   BLOOD

Thrombosis in primary myelofibrosis: incidence and risk factors

(2009) T. Barbui et al.   BLOOD

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

(2009) O. Kosmider et al.   BLOOD

Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia

(2009) C. L. Fisher et al.   BLOOD

Ubiquitination and degradation of the thrombopoietin receptor c-Mpl

(2009) S. J. Saur et al.   BLOOD

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh et al.   BLOOD

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia

(2009) H. Muramatsu et al.   BLOOD

E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease

(2009) S. R. Bandi et al.   BLOOD

Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms

(2009) A. M. Jankowska et al.   BLOOD

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

(2009) F. H. Grand et al.   BLOOD

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

(2009) J. W. Vardiman et al.   BLOOD

Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones

(2009) Philip A. Beer et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

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

CBL Exon 8/9 Mutants Activate the FLT3 Pathway and Cluster in Core Binding Factor/11q Deletion Acute Myeloid Leukemia/Myelodysplastic Syndrome Subtypes

(2009) C. Reindl et al.   CLINICAL CANCER RESEARCH

IDH1 Mutations as Molecular Signature and Predictive Factor of Secondary Glioblastomas

(2009) S. Nobusawa et al.   CLINICAL CANCER RESEARCH

Conventional cytogenetics in myelofibrosis: literature review and discussion

(2009) Kebede Hussein et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia

(2009) O. Kosmider et al.   HAEMATOLOGICA

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

(2009) J. Flach et al.   HAEMATOLOGICA

Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis

(2009) L. Teofili et al.   HAEMATOLOGICA

IDH1mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors

(2009) Fonnet E. Bleeker et al.   HUMAN MUTATION

Janus kinases in immune cell signaling

(2009) Kamran Ghoreschi et al.   IMMUNOLOGICAL REVIEWS

Absence of IDH2 codon 172 mutation in common human cancers

(2009) Sang Wook Park et al.   INTERNATIONAL JOURNAL OF CANCER

Mutational analysis of IDH1 codon 132 in glioblastomas and other common cancers

(2009) Mi Ran Kang et al.   INTERNATIONAL JOURNAL OF CANCER

ASXL1 Represses Retinoic Acid Receptor-mediated Transcription through Associating with HP1 and LSD1

(2009) Sang-Wang Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STAT5 Activation Is Critical for the Transformation Mediated by Myeloproliferative Disorder-associated JAK2 V617F Mutant

(2009) Megumi Funakoshi-Tago et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1

(2009) Ayalew Tefferi   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Isocitrate Dehydrogenase Mutations Are Rare in Pheochromocytomas and Paragangliomas

(2009) José Gaal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Molecular Predictors of Progression-Free and Overall Survival in Patients With Newly Diagnosed Glioblastoma: A Prospective Translational Study of the German Glioma Network

(2009) Michael Weller et al.   JOURNAL OF CLINICAL ONCOLOGY

Novel TET2 Mutations Associated With UPD4q24 in Myelodysplastic Syndrome

(2009) Azim M. Mohamedali et al.   JOURNAL OF CLINICAL ONCOLOGY

Isocitrate Dehydrogenase 1 Codon 132 Mutation Is an Important Prognostic Biomarker in Gliomas

(2009) Marc Sanson et al.   JOURNAL OF CLINICAL ONCOLOGY

NOA-04 Randomized Phase III Trial of Sequential Radiochemotherapy of Anaplastic Glioma With Procarbazine, Lomustine, and Vincristine or Temozolomide

(2009) Wolfgang Wick et al.   JOURNAL OF CLINICAL ONCOLOGY

The complete evaluation of erythrocytosis: congenital and acquired

(2009) M M Patnaik et al.   LEUKEMIA

No evidence of frequent association of the JAK2 V617F mutation with acute myocardial infarction in young patients

(2009) M Politou et al.   LEUKEMIA

The ‘GGCC’ haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera

(2009) D Olcaydu et al.   LEUKEMIA

MPLW515L mutation in acute megakaryoblastic leukaemia

(2009) K Hussein et al.   LEUKEMIA

Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias

(2009) L Couronné et al.   LEUKEMIA

The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status—clinical correlates in a study of 226 consecutive patients

(2009) A Pardanani et al.   LEUKEMIA

JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival

(2009) A Tefferi et al.   LEUKEMIA

CYT387, a selective JAK1/JAK2 inhibitor: in vitro assessment of kinase selectivity and preclinical studies using cell lines and primary cells from polycythemia vera patients

(2009) A Pardanani et al.   LEUKEMIA

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

(2009) N Carbuccia et al.   LEUKEMIA

Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates

(2009) A Tefferi et al.   LEUKEMIA

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis

(2009) A Tefferi et al.   LEUKEMIA

Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML

(2009) A Tefferi et al.   LEUKEMIA

JAK2V617Fmutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients

(2009) Francesca Palandri et al.   LEUKEMIA & LYMPHOMA

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

JAK2 phosphorylates histone H3Y41 and excludes HP1α from chromatin

(2009) Mark A. Dawson et al.   NATURE

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms

(2009) Masashi Sanada et al.   NATURE

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms

(2009) Damla Olcaydu et al.   NATURE GENETICS

Acquired mutations in TET2 are common in myelodysplastic syndromes

(2009) Saskia M C Langemeijer et al.   NATURE GENETICS

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

(2009) Amy V Jones et al.   NATURE GENETICS

Mutation inTET2in Myeloid Cancers

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

Myelodysplastic Syndromes

(2009) Ayalew Tefferi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

A progenitor cell origin of myeloid malignancies

(2009) H. Haeno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glioma-Derived Mutations in IDH1 Dominantly Inhibit IDH1 Catalytic Activity and Induce HIF-1 

(2009) S. Zhao et al.   SCIENCE

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

(2009) M. Tahiliani et al.   SCIENCE

Analysis of the IDH1 codon 132 mutation in brain tumors

(2008) Jörg Balss et al.   ACTA NEUROPATHOLOGICA

The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity

(2008) C. James et al.   BLOOD

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

Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

(2008) A. M. Vannucchi et al.   BLOOD

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

(2008) P. A. Beer et al.   BLOOD

Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden

(2008) O. Landgren et al.   BLOOD

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders

(2008) I. Plo et al.   BLOOD

New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment

(2008) F. Cervantes et al.   BLOOD

JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

(2008) A. H. Schmitt-Graeff et al.   HAEMATOLOGICA

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

Genetic complexity of myeloproliferative neoplasms

(2008) R Kralovics   LEUKEMIA

UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation

(2008) H Szpurka et al.   LEUKEMIA

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition

(2008) R Chaligné et al.   LEUKEMIA

Evidence suggesting the presence of a stem cell clone anteceding the acquisition of the JAK2-V617F mutation

(2008) R Jamal et al.   LEUKEMIA

Constitutive JunB expression, associated with the JAK2 V617F mutation, stimulates proliferation of the erythroid lineage

(2008) B da Costa Reis Monte-Mór et al.   LEUKEMIA

Aberrant signal transduction pathways in myeloproliferative neoplasms

(2008) J Kota et al.   LEUKEMIA

TG101348, a JAK2-selective antagonist, inhibits primary hematopoietic cells derived from myeloproliferative disorder patients with JAK2V617F, MPLW515K or JAK2 exon 12 mutations as well as mutation negative patients

(2008) T L Lasho et al.   LEUKEMIA

Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival

(2008) A Tefferi et al.   LEUKEMIA

Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal

(2008) A M Vannucchi et al.   LEUKEMIA

JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science

(2008) O Kilpivaara et al.   LEUKEMIA

BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros

(2008) Charles G. Mullighan et al.   NATURE

Variable breakpoints target PAX5 in patients with dicentric chromosomes: A model for the basis of unbalanced translocations in cancer

(2008) Q. An et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE

Canonical and non-canonical JAK–STAT signaling

(2008) Willis X. Li   TRENDS IN CELL BIOLOGY

Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

(2007) R. Tiedt et al.   BLOOD