Update on cytogenetic and molecular changes in myelodysplastic syndromes

Autosomal monosomies among 24,262 consecutive cytogenetic studies: Prevalence, chromosomal distribution and clinicopathologic correlates of sole abnormalities

(2011) Sania Raza et al.   AMERICAN JOURNAL OF HEMATOLOGY

Isolated del(5q) in myeloid malignancies: Clinicopathologic and molecular features in 143 consecutive patients

(2011) Mrinal M. Patnaik et al.   AMERICAN JOURNAL OF HEMATOLOGY

Partial and total monosomal karyotypes in myelodysplastic syndromes: Comparative prognostic relevance among 421 patients

(2011) Carolina B. Belli et al.   AMERICAN JOURNAL OF HEMATOLOGY

First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation

(2011) H. Xiao et al.   BLOOD

Advances in the prognostication and management of advanced MDS in children

(2011) Henrik Hasle et al.   BRITISH JOURNAL OF HAEMATOLOGY

Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia

(2011) Tim Ripperger et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

DNMT3A mutations are rare in childhood acute myeloid leukemia

(2011) F. Thol et al.   HAEMATOLOGICA

Prognostic Significance of ASXL1 Mutations in Patients With Myelodysplastic Syndromes

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

Coalesced Multicentric Analysis of 2,351 Patients With Myelodysplastic Syndromes Indicates an Underestimation of Poor-Risk Cytogenetics of Myelodysplastic Syndromes in the International Prognostic Scoring System

(2011) Julie Schanz et al.   JOURNAL OF CLINICAL ONCOLOGY

Prognostic Importance of Histone Methyltransferase MLL5 Expression in Acute Myeloid Leukemia

(2011) Frederik Damm et al.   JOURNAL OF CLINICAL ONCOLOGY

TP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression

(2011) Martin Jädersten et al.   JOURNAL OF CLINICAL ONCOLOGY

Telomere shortening, clonal evolution and disease progression in myelodysplastic syndrome patients with 5q deletion treated with lenalidomide

(2011) G Göhring et al.   LEUKEMIA

Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study

(2011) B Strahm et al.   LEUKEMIA

Recurrent DNMT3A mutations in patients with myelodysplastic syndromes

(2011) M J Walter 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

221 Occurrence of trisomy 8 (+8) in patients with Low- or Int-1-risk MDS with deletion 5q [del(5q)] treated with lenalidomide

(2011) G. Mufti et al.   LEUKEMIA RESEARCH

Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome

(2011) Mar Mallo et al.   LEUKEMIA RESEARCH

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

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

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

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

BRAFMutations in Hairy-Cell Leukemia

(2011) Enrico Tiacci et al.   NEW ENGLAND JOURNAL OF MEDICINE

Use of chromosome engineering to model a segmental deletion of chromosome band 7q22 found in myeloid malignancies

(2010) J. C. Y. Wong et al.   BLOOD

Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome

(2010) A. Pellagatti et al.   BLOOD

Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value

(2010) A. E. Smith et al.   BLOOD

Advances in the 5q- syndrome

(2010) J. Boultwood et al.   BLOOD

Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation

(2010) W. C. Chou et al.   BLOOD

Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome

(2010) G. Gohring et al.   BLOOD

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt 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

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

Clonal heterogeneity in childhood myelodysplastic syndromes-Challenge for the detection of chromosomal imbalances by array-CGH

(2010) Inka Praulich et al.   GENES CHROMOSOMES & CANCER

Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

(2010) G. Gohring et al.   HAEMATOLOGICA

IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis

(2010) F. Thol et al.   HAEMATOLOGICA

Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia

(2010) Sanne Lugthart et al.   JOURNAL OF CLINICAL ONCOLOGY

A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders

(2010) K Yoshida et al.   LEUKEMIA

Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML

(2010) F Dicker et al.   LEUKEMIA

The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration

(2010) O Abdel-Wahab et al.   LEUKEMIA

Monosomal karyotype in myelodysplastic syndromes, with or without monosomy 7 or 5, is prognostically worse than an otherwise complex karyotype

(2010) M M Patnaik et al.   LEUKEMIA

Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q

(2010) M Mallo et al.   LEUKEMIA

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

(2010) J Boultwood et al.   LEUKEMIA

Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms

(2010) O Kosmider 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

Does monosomy 5 really exist in myelodysplastic syndromes and acute myeloid leukemia?

(2010) Ana Belén Galván et al.   LEUKEMIA RESEARCH

Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML

(2010) Vincenza Barresi et al.   LEUKEMIA RESEARCH

Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification

(2010) Shinsuke Ito et al.   NATURE

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

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

Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease

(2010) Stefan Stein et al.   NATURE MEDICINE

Persistent Malignant Stem Cells in del(5q) Myelodysplasia in Remission

(2010) Ramin Tehranchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines

(2010) An De Weer et al.   PLoS One

NPM1 Deletion Is Associated with Gross Chromosomal Rearrangements in Leukemia

(2010) Roberta La Starza et al.   PLoS One

Patients with del(5q) MDS who fail to achieve sustained erythroid or cytogenetic remission after treatment with lenalidomide have an increased risk for clonal evolution and AML progression

(2009) Gudrun Göhring et al.   ANNALS OF HEMATOLOGY

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome

(2009) Hiroya Asou et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh 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

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

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

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

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

Azacitidine Prolongs Overall Survival Compared With Conventional Care Regimens in Elderly Patients With Low Bone Marrow Blast Count Acute Myeloid Leukemia

(2009) Pierre Fenaux et al.   JOURNAL OF CLINICAL ONCOLOGY

Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study

(2009) Pierre Fenaux et al.   LANCET ONCOLOGY

A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?

(2009) T Ripperger et al.   LEUKEMIA

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA

Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study

(2009) Kathy Chun et al.   LEUKEMIA RESEARCH

GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis

(2009) Ryoji Fujiki et al.   NATURE

Acquired mutations in TET2 are common in myelodysplastic syndromes

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

DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction

(2009) Ann-Marie Bröske et al.   NATURE GENETICS

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Identification of miR-145 and miR-146a as mediators of the 5q– syndrome phenotype

(2009) Daniel T Starczynowski et al.   NATURE 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

Mll5 contributes to hematopoietic stem cell fitness and homeostasis

(2008) Y. Zhang et al.   BLOOD

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy

(2008) C. J. Owen et al.   BLOOD

Loss of Mll5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation

(2008) M. Heuser et al.   BLOOD

Impaired function of primitive hematopoietic cells in mice lacking the Mixed-Lineage-Leukemia homolog Mll5

(2008) V. Madan et al.   BLOOD

AML1 mutations induced MDS and MDS/AML in a mouse BMT model

(2008) N. Watanabe-Okochi et al.   BLOOD

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options

(2008) Charlotte Marie Niemeyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

Monosomal Karyotype in Acute Myeloid Leukemia: A Better Indicator of Poor Prognosis Than a Complex Karyotype

(2008) Dimitri A. Breems et al.   JOURNAL OF CLINICAL ONCOLOGY

Myeloid cell differentiation arrest by miR-125b-1 in myelodysplasic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation

(2008) Marina Bousquet et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2008) C Haferlach et al.   LEUKEMIA

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

(2008) Benjamin L. Ebert et al.   NATURE

The Role of JAK2 Mutations in RARS and Other MDS

(2008) E. Hellstrom-Lindberg et al.   Hematology-American Society of Hematology Education Program