Genetics of MDS

DNA repair processes are critical mediators of p53-dependent tumor suppression

(2018) Ana Janic et al.   NATURE MEDICINE

Somatic mutations precede acute myeloid leukemia years before diagnosis

(2018) Pinkal Desai et al.   NATURE MEDICINE

Synthetic Lethal and Convergent Biological Effects of Cancer-Associated Spliceosomal Gene Mutations

(2018) Stanley Chun-Wei Lee et al.   CANCER CELL

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia

(2018) Yusuke Shiozawa et al.   Nature Communications

Classification and Personalized Prognosis in Myeloproliferative Neoplasms

(2018) Jacob Grinfeld et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clonal Hematopoiesis Associated With Adverse Outcomes After Autologous Stem-Cell Transplantation for Lymphoma

(2017) Christopher J. Gibson et al.   JOURNAL OF CLINICAL ONCOLOGY

Genomic determinants of chronic myelomonocytic leukemia

(2017) B J Patel et al.   LEUKEMIA

A novel genetic and morphologic phenotype of ARID2-mediated myelodysplasia

(2017) H Sakai et al.   LEUKEMIA

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation

(2017) R. Coleman Lindsley et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Cohesin Complex Is Necessary for Epidermal Progenitor Cell Function through Maintenance of Self-Renewal Genes

(2017) Maria Noutsou et al.   Cell Reports

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

(2016) Hartmut Döhner et al.   BLOOD

The NLRP3 inflammasome functions as a driver of the myelodysplastic syndrome phenotype

(2016) A. A. Basiorka et al.   BLOOD

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation

(2016) Esther A. Obeng et al.   CANCER CELL

Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation

(2016) Matteo G. Della Porta et al.   JOURNAL OF CLINICAL ONCOLOGY

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts

(2016) A Mupo et al.   LEUKEMIA

Dynamics of clonal evolution in myelodysplastic syndromes

(2016) Hideki Makishima et al.   NATURE GENETICS

Ubiquitination of hnRNPA1 by TRAF6 links chronic innate immune signaling with myelodysplasia

(2016) Jing Fang et al.   NATURE IMMUNOLOGY

A calcium- and calpain-dependent pathway determines the response to lenalidomide in myelodysplastic syndromes

(2016) Jing Fang et al.   NATURE MEDICINE

Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9

(2016) Rebekka K Schneider et al.   NATURE MEDICINE

TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes

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

Genomic Classification and Prognosis in Acute Myeloid Leukemia

(2016) Elli Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

(2016) Samar Alsafadi et al.   Nature Communications

Wild-Type U2AF1 Antagonizes the Splicing Program Characteristic of U2AF1-Mutant Tumors and Is Required for Cell Survival

(2016) Dennis Liang Fei et al.   PLoS Genetics

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

(2015) L. Malcovati et al.   BLOOD

Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

(2015) D. P. Steensma et al.   BLOOD

SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

(2015) Eunhee Kim et al.   CANCER CELL

Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo

(2015) Cara Lunn Shirai et al.   CANCER CELL

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

(2015) Jan Krönke et al.   NATURE

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

(2015) Tetsuichi Yoshizato et al.   NEW ENGLAND JOURNAL OF MEDICINE

EVI1-rearranged acute myeloid leukemias are characterized by distinct molecular alterations

(2014) Vincent-Philippe Lavallée et al.   BLOOD

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

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia

(2014) Terrence N. Wong et al.   NATURE

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

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

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Splicing factor mutations and cancer

(2014) Kenichi Yoshida et al.   Wiley Interdisciplinary Reviews-RNA

The genetic basis of myelodysplasia and its clinical relevance

(2013) M. Cazzola et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

TP53mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis

(2013) Austin G. Kulasekararaj et al.   BRITISH JOURNAL OF HAEMATOLOGY

Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

(2013) Omar Abdel-Wahab et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

(2013) Ayana Kon et al.   NATURE GENETICS

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

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

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

(2012) M. Meggendorfer et al.   BLOOD

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

(2012) H. Makishima et al.   BLOOD

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

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

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

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

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

Clonal Architecture of Secondary Acute Myeloid Leukemia

(2012) Matthew J. Walter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-Nucleotide Polymorphism Array Karyotyping in Clinical Practice: Where, When, and How?

(2012) Aiko Sato-Otsubo et al.   SEMINARS IN ONCOLOGY

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

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

Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance

(2011) V Grossmann et al.   LEUKEMIA

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

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

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

(2010) S. Dutt et al.   BLOOD

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

(2010) Myunggon Ko et al.   NATURE

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

(2010) Marc H. G. P. Raaijmakers et al.   NATURE

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

DNMT3AMutations in Acute Myeloid Leukemia

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

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

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

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

(2009) Masashi Sanada et al.   NATURE

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

(2009) Stefano Fumagalli et al.   NATURE CELL BIOLOGY

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

Cytogenetic features in myelodysplastic syndromes

(2008) Detlef Haase   ANNALS OF HEMATOLOGY

Myelodysplastic syndromes

(2008) S. D. Nimer   BLOOD