Myeloid neoplasms with germ line RUNX1 mutation

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan

(2016) A. Yoshimi et al.   ANNALS OF ONCOLOGY

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

(2016) D. A. Arber et al.   BLOOD

Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0

(2016) Vladimir T. Manchev et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele

(2016) M Sakurai et al.   Blood Cancer Journal

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia

(2015) J. E. Churpek et al.   BLOOD

Targeted next-generation sequencing of familial platelet disorder with predisposition to acute myeloid leukaemia

(2015) Karl Haslam et al.   BRITISH JOURNAL OF HAEMATOLOGY

Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies

(2015) Hironori Harada et al.   CANCER SCIENCE

Runx1 Deficiency Decreases Ribosome Biogenesis and Confers Stress Resistance to Hematopoietic Stem and Progenitor Cells

(2015) Xiongwei Cai et al.   Cell Stem Cell

Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis

(2015) Hiromitsu Iizuka et al.   EXPERIMENTAL HEMATOLOGY

Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia

(2015) I Antony-Debré et al.   LEUKEMIA

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

(2014) J. P. Connelly et al.   BLOOD

Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients

(2014) M Sakurai et al.   LEUKEMIA

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

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

Recurrent CDC25C mutations drive malignant transformation in FPD/AML

(2014) Akihide Yoshimi et al.   Nature Communications

Concomitant germ-lineRUNX1and acquiredASXL1mutations in a T-cell acute lymphoblastic leukemia

(2013) Thomas Prebet et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells

(2013) Susumu Goyama et al.   JOURNAL OF CLINICAL INVESTIGATION

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

(2012) Jane E. Churpek et al.   LEUKEMIA & LYMPHOMA

RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

(2012) Larissa Lordier et al.   Nature Communications

Tet2 disruption leads to enhanced self-renewal and altered differentiation of fetal liver hematopoietic stem cells

(2012) Hiroyoshi Kunimoto et al.   Scientific Reports

CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML)

(2011) N. Shiba et al.   BLOOD

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

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

(2010) G. Jalagadugula et al.   BLOOD

T cell acute lymphoblastic leukemia arising from familial platelet disorder

(2010) Nahoko Nishimoto et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Molecular mechanisms that produce secondary MDS/AML byRUNX1/AML1point mutations

(2010) Yuka Harada et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder

(2009) C. Preudhomme et al.   BLOOD

Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations

(2009) Yuka Harada et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

(2009) M C J Jongmans et al.   LEUKEMIA

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

(2009) Masashi Sanada et al.   NATURE

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

(2008) M. Shinawi 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

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