Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia

Donor-derived MDS/AML in families with germline GATA2 mutation

(2018) Pallavi Galera et al.   BLOOD

Myeloid Neoplasms with Germline Predisposition

(2018) Julia T. Geyer   PATHOBIOLOGY

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia

(2017) Nicolas Duployez et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation

(2017) Rashmi Kanagal-Shamanna et al.   HAEMATOLOGICA

Germline ETV6 mutations and predisposition to hematological malignancies

(2017) Simone Feurstein et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

(2017) Caterina Marconi et al.   Journal of Hematology & Oncology

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

(2017) C. Zaninetti et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation

(2017) S Kobayashi et al.   LEUKEMIA

Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases

(2017) Hamilton C Tsang et al.   MODERN PATHOLOGY

Spectrum of 5’UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected

(2017) Silvia Ferrari et al.   PLATELETS

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

(2017) Brigitte Schlegelberger et al.   SEMINARS IN HEMATOLOGY

ETV6 in hematopoiesis and leukemia predisposition

(2017) Hanno Hock et al.   SEMINARS IN HEMATOLOGY

Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation

(2017) Rashmi Kanagal-Shamanna et al.   HAEMATOLOGICA

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

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

(2016) Hartmut Döhner 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

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

Myelodysplastic Syndromes, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology

(2016) Peter L. Greenberg et al.   Journal of the National Comprehensive Cancer Network

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

(2016) Veronique Latger-Cannard et al.   Orphanet Journal of Rare Diseases

Clinical and laboratory characteristics in congenitalANKRD26mutation-associated thrombocytopenia: A detailed phenotypic study of a family

(2016) Juliana Perez Botero et al.   PLATELETS

Inherited thrombocytopenias—recent advances in clinical and molecular aspects

(2016) Carlo L. Balduini et al.   PLATELETS

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

Germ line mutations associated with leukemias

(2016) C. C. Porter   Hematology-American Society of Hematology Education Program

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1

(2015) W. S. Stevenson et al.   BLOOD

Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene

(2015) H. Boutroux et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study

(2015) Takaya Moriyama et al.   LANCET ONCOLOGY

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

(2015) I Antony-Debré et al.   LEUKEMIA

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

(2015) Daria V. Babushok et al.   LEUKEMIA & LYMPHOMA

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets

(2015) Meri Ouchi-Uchiyama et al.   PEDIATRIC BLOOD & CANCER

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

(2015) Sabine Topka et al.   PLoS Genetics

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

(2014) P. Noris et al.   BLOOD

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

(2014) J. P. Connelly et al.   BLOOD

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

(2014) I. Antony-Debre et al.   BLOOD

ETV6 (TEL1) regulates embryonic hematopoiesis in zebrafish

(2014) P. Rasighaemi et al.   HAEMATOLOGICA

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

(2014) Dominique Bluteau et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2014) M Sakurai et al.   LEUKEMIA

Inherited Predisposition to Acute Myeloid Leukemia

(2014) Lucy A. Godley   SEMINARS IN HEMATOLOGY

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia

(2013) Takashi Toya et al.   PLATELETS

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression

(2012) D. Bluteau et al.   BLOOD

RUNX family: Regulation and diversification of roles through interacting proteins

(2012) Linda Shyue Huey Chuang et al.   INTERNATIONAL JOURNAL OF CANCER

ETV6 fusion genes in hematological malignancies: A review

(2012) Etienne De Braekeleer et al.   LEUKEMIA RESEARCH

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia

(2012) Vittorio Necchi et al.   THROMBOSIS AND HAEMOSTASIS

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris et al.   BLOOD

Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators

(2011) Marloes R. Tijssen et al.   DEVELOPMENTAL CELL

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

Ankrd26Gene Disruption Enhances Adipogenesis of Mouse Embryonic Fibroblasts

(2011) Zhaoliang Fei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Familial Aggregation of Acute Myeloid Leukemia and Myelodysplastic Syndromes

(2011) Lynn R. Goldin et al.   JOURNAL OF CLINICAL ONCOLOGY

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

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

(2010) F. PUNZO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mechanism of platelet factor 4 (PF4) deficiency with RUNX1 haplodeficiency: RUNX1 is a transcriptional regulator of PF4

(2010) K. ANEJA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia

(2010) K. Paulsson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) C. Preudhomme et al.   BLOOD

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

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

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

(2008) C. J. Owen et al.   BLOOD