Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable

Somatic mutations and epigenetic abnormalities in myelodysplastic syndromes

(2014) Raphael Itzykson et al.   BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY

Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib

(2014) C. Y. Cheah et al.   BLOOD

Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia

(2014) L. Malcovati et al.   BLOOD

Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms

(2014) S. A. Wang et al.   BLOOD

Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis

(2014) J. Skokowa et al.   BLOOD

Genetic alterations of the cohesin complex genes in myeloid malignancies

(2014) S. Thota et al.   BLOOD

The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients

(2014) P Guglielmelli et al.   LEUKEMIA

An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms

(2014) A Tefferi et al.   LEUKEMIA

A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events

(2014) Angela N. Brooks et al.   PLoS One

Prognostic impact of blast cell counts in dysplastic bone marrow disorders (MDS and CMML I) with concomitant fibrosis

(2013) Sigrid Machherndl-Spandl et al.   ANNALS OF HEMATOLOGY

The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment

(2013) J. Gotlib et al.   BLOOD

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms

(2013) B. Przychodzen et al.   BLOOD

GM-CSF-dependent pSTAT5 sensitivity is a feature with therapeutic potential in chronic myelomonocytic leukemia

(2013) E. Padron et al.   BLOOD

The genetic basis of myelodysplasia and its clinical relevance

(2013) M. Cazzola et al.   BLOOD

The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition

(2013) A. G. Fleischman et al.   BLOOD

Development and validation of a prognostic scoring system for patients with chronic myelomonocytic leukemia

(2013) E. Such et al.   BLOOD

Clonal architecture of chronic myelomonocytic leukemias

(2013) R. Itzykson et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Next-generation sequencing - feasibility and practicality in haematology

(2013) Alexander Kohlmann et al.   BRITISH JOURNAL OF HAEMATOLOGY

SETBP1mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia

(2013) Norio Shiba et al.   BRITISH JOURNAL OF HAEMATOLOGY

Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes

(2013) Ramon V. Tiu et al.   CURRENT OPINION IN HEMATOLOGY

Prognostic Score Including Gene Mutations in Chronic Myelomonocytic Leukemia

(2013) Raphaël Itzykson et al.   JOURNAL OF CLINICAL ONCOLOGY

Acquired Mutations That Affect Pre-mRNA Splicing in Hematologic Malignancies and Solid Tumors

(2013) L. M. Scott et al.   JNCI-Journal of the National Cancer Institute

Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia

(2013) O Kosmider et al.   LEUKEMIA

CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia

(2013) A Pardanani et al.   LEUKEMIA

SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias

(2013) F Damm et al.   LEUKEMIA

SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML

(2013) R R Laborde et al.   LEUKEMIA

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

(2013) Ayana Kon et al.   NATURE GENETICS

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML

(2013) Julia E. Maxson et al.   NEW ENGLAND JOURNAL OF MEDICINE

FLT3mutations in myelodysplastic syndrome and chronic myelomonocytic leukemia

(2012) Naval Daver et al.   AMERICAN JOURNAL OF HEMATOLOGY

Functional roles of protein splicing factors

(2012) Hsin‑Chou Chen et al.   BIOSCIENCE REPORTS

Ruxolitinib inhibits transforming JAK2 fusion proteins in vitro and induces complete cytogenetic remission in t(8;9)(p22;p24)/PCM1-JAK2-positive chronic eosinophilic leukemia

(2012) E. Lierman et al.   BLOOD

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

(2012) M. Meggendorfer et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10

(2012) K. Oakley et al.   BLOOD

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

(2012) H. Makishima et al.   BLOOD

Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia

(2012) R. Beekman et al.   BLOOD

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements

(2012) A. Chase et al.   HAEMATOLOGICA

Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome

(2012) A. Chase et al.   HAEMATOLOGICA

Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia

(2012) S. A. Kar et al.   HAEMATOLOGICA

Acquired Uniparental Disomy in Myeloproliferative Neoplasms

(2012) Joannah Score et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation

(2012) P Ballerini et al.   LEUKEMIA

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

Stem Cell Factor Receptor/c-Kit: From Basic Science to Clinical Implications

(2012) Johan Lennartsson et al.   PHYSIOLOGICAL REVIEWS

Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

(2012) Marta Fernandez-Mercado et al.   PLoS One

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

(2011) A. M. Jankowska et al.   BLOOD

Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3

(2011) C. Walz et al.   BLOOD

G-CSF receptor activation of the Src kinase Lyn is mediated by Gab2 recruitment of the Shp2 phosphatase

(2011) M. Futami et al.   BLOOD

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

(2011) J. Score et al.   BLOOD

Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

(2011) R. V. Tiu et al.   BLOOD

Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53

(2011) Rashmi Kanagal-Shamanna et al.   CANCER

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

(2011) V Visconte et al.   LEUKEMIA

DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms

(2011) O Abdel-Wahab 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

PP2A impaired activity is a common event in acute myeloid leukemia and its activation by forskolin has a potent anti-leukemic effect

(2011) I Cristóbal et al.   LEUKEMIA

A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia

(2011) Apostolos Klinakis et al.   NATURE

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

p53 Lesions in Leukemic Transformation

(2011) Ashot Harutyunyan et al.   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

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

(2011) S. Ito et al.   SCIENCE

Genetic and Epigenetic Complexity in Myeloproliferative Neoplasms

(2011) N. C. P. Cross   Hematology-American Society of Hematology Education Program

Myelodysplastic/Myeloproliferative Neoplasms

(2011) M. Cazzola et al.   Hematology-American Society of Hematology Education Program

Cross-talk in transcription, splicing and chromatin: who makes the first call?

(2010) Ross Alexander et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

G-CSF and its receptor in myeloid malignancy

(2010) R. Beekman et al.   BLOOD

The classification of systemic mastocytosis should include mast cell leukemia (MCL) and systemic mastocytosis with a clonal hematologic non-mast cell lineage disease (SM-AHNMD)

(2010) P. Valent et al.   BLOOD

Activity of azacitidine in chronic myelomonocytic leukemia

(2010) Rubens Costa et al.   CANCER

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

RAS Mutations Contribute to Evolution of Chronic Myelomonocytic Leukemia to the Proliferative Variant

(2010) C. Ricci et al.   CLINICAL CANCER RESEARCH

Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms

(2010) T. Ernst et al.   HAEMATOLOGICA

Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1

(2010) Alexander Kohlmann et al.   JOURNAL OF CLINICAL ONCOLOGY

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

JAK2V617F and beyond: role of genetics and aberrant signaling in the pathogenesis of myeloproliferative neoplasms

(2010) Stephen T Oh et al.   Expert Review of Hematology

Cohesin: Its Roles and Mechanisms

(2009) Kim Nasmyth et al.   Annual Review of Genetics

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

(2009) L. Malcovati et al.   BLOOD

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

(2009) O. Abdel-Wahab et al.   BLOOD

SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia

(2009) I. Cristobal et al.   BLOOD

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

(2009) O. Kosmider 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 Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

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

(2009) O. Kosmider et al.   HAEMATOLOGICA

Molecular basis of myelodysplastic/myeloproliferative neoplasms

(2009) A. Reiter et al.   HAEMATOLOGICA

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

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia 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

RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation

(2009) M-C Kuo et al.   LEUKEMIA

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

(2009) Masashi Sanada et al.   NATURE

Mutation inTET2in Myeloid Cancers

(2009) François Delhommeau 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

Oncogenic Kras Initiates Leukemia in Hematopoietic Stem Cells

(2009) Amit J Sabnis et al.   PLOS BIOLOGY

Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs

(2008) D. E. Rollison et al.   BLOOD

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

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

The emerging role of splicing factors in cancer

(2008) Ana Rita Grosso et al.   EMBO REPORTS

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

(2008) J. M. Raya et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Dysregulation of the C/EBPα Differentiation Pathway in Human Cancer

(2008) Steffen Koschmieder et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm

(2008) Falko Fend et al.   LEUKEMIA RESEARCH