Genetic abnormalities and pathophysiology of MDS

The enigma of monosomy 7

(2018) Toshiya Inaba et al.   BLOOD

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential

(2018) Terrence N. Wong et al.   Nature Communications

Impact of the number of mutations in survival and response outcomes to hypomethylating agents in patients with myelodysplastic syndromes or myelodysplastic/myeloproliferative neoplasms

(2018) Guillermo Montalban-Bravo et al.   Oncotarget

Income and Cancer Overdiagnosis — When Too Much Care Is Harmful

(2017) H. Gilbert Welch et al.   NEW ENGLAND JOURNAL OF MEDICINE

DDX41-related myeloid neoplasia

(2017) Jaroslaw P. Maciejewski et al.   SEMINARS IN HEMATOLOGY

Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

(2016) Christian Scharenberg et al.   HAEMATOLOGICA

Dynamics of clonal evolution in myelodysplastic syndromes

(2016) Hideki Makishima et al.   NATURE GENETICS

TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes

(2016) John S. Welch et al.   NEW ENGLAND JOURNAL OF MEDICINE

Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

(2016) Christian Scharenberg et al.   HAEMATOLOGICA

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance

(2015) B. Kwok et al.   BLOOD

Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

(2015) D. P. Steensma et al.   BLOOD

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

(2015) Chantana Polprasert et al.   CANCER CELL

The molecular pathogenesis of the myelodysplastic syndromes

(2015) Andrea Pellagatti et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

IDH1 and IDH2 mutations in myelodysplastic syndromes and role in disease progression

(2015) C D DiNardo et al.   LEUKEMIA

Lenalidomide induces ubiquitination and degradation of CK1α in del(5q) MDS

(2015) Jan Krönke et al.   NATURE

The function of CUX1 in oxidative DNA damage repair is needed to prevent premature senescence of mouse embryo fibroblasts

(2015) Zubaidah M. Ramdzan et al.   Oncotarget

Acute myeloid leukemia ontogeny is defined by distinct somatic mutations

(2014) R. C. Lindsley et al.   BLOOD

Role of Casein Kinase 1A1 in the Biology and Targeted Therapy of del(5q) MDS

(2014) Rebekka K. Schneider et al.   CANCER CELL

Somatic Mutations Predict Poor Outcome in Patients With Myelodysplastic Syndrome After Hematopoietic Stem-Cell Transplantation

(2014) Rafael Bejar et al.   JOURNAL OF CLINICAL ONCOLOGY

Recurrent genetic defects on chromosome 7q in myeloid neoplasms

(2014) N Hosono et al.   LEUKEMIA

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

IDHmutations are closely associated with mutations ofDNMT3A,ASXL1andSRSF2in patients with myelodysplastic syndromes and are stable during disease evolution

(2013) Chien-Chin Lin et al.   AMERICAN JOURNAL OF HEMATOLOGY

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Haploinsufficiency of SAMD9L, an Endosome Fusion Facilitator, Causes Myeloid Malignancies in Mice Mimicking Human Diseases with Monosomy 7

(2013) Akiko Nagamachi et al.   CANCER CELL

Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies

(2013) S N Khan et al.   LEUKEMIA

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

Inactivating CUX1 mutations promote tumorigenesis

(2013) Chi C Wong et al.   NATURE GENETICS

CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia

(2012) M. E. McNerney et al.   BLOOD

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

(2012) A. Jerez et al.   BLOOD

Revised International Prognostic Scoring System for Myelodysplastic Syndromes

(2012) P. L. Greenberg et al.   BLOOD

Effects ofTET2mutations on DNA methylation in chronic myelomonocytic leukemia

(2012) Jumpei Yamazaki et al.   Epigenetics

New Comprehensive Cytogenetic Scoring System for Primary Myelodysplastic Syndromes (MDS) and Oligoblastic Acute Myeloid Leukemia After MDS Derived From an International Database Merge

(2012) Julie Schanz et al.   JOURNAL OF CLINICAL ONCOLOGY

Topography, Clinical, and Genomic Correlates of 5q Myeloid Malignancies Revisited

(2012) Andres Jerez et al.   JOURNAL OF CLINICAL ONCOLOGY

EED mutants impair polycomb repressive complex 2 in myelodysplastic syndrome and related neoplasms

(2012) T Ueda et al.   LEUKEMIA

The Polycomb complex PRC2 supports aberrant self-renewal in a mouse model of MLL-AF9;NrasG12D acute myeloid leukemia

(2012) J Shi et al.   ONCOGENE

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

(2011) J. Score et al.   BLOOD

Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

(2011) L. Mollgard et al.   HAEMATOLOGICA

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

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

Recurrent DNMT3A mutations in patients with myelodysplastic syndromes

(2011) M J Walter et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

The Polycomb complex PRC2 and its mark in life

(2011) Raphaël Margueron et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

Metabolism unhinged: IDH mutations in cancer

(2011) John R Prensner et al.   NATURE MEDICINE

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

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

WHO-defined ‘myelodysplastic syndrome with isolated del(5q)’ in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations

(2010) M M Patnaik 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

Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies

(2010) H Makishima et al.   LEUKEMIA

Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2

(2010) Myunggon Ko 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

The heterogeneous prognosis of patients with myelodysplastic syndrome and chromosome 5 abnormalities

(2009) Hagop Kantarjian et al.   CANCER

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression

(2009) M. Jadersten et al.   HAEMATOLOGICA

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

(2009) Daniel T Starczynowski et al.   NATURE MEDICINE

Mechanisms of Polycomb gene silencing: knowns and unknowns

(2009) Jeffrey A. Simon et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

(2008) Benjamin L. Ebert et al.   NATURE