Thrombocytosis in children and adolescents—classification, diagnostic approach, and clinical management

Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age, a systematic review.

(2019) Jean-Christophe Ianotto et al.   HAEMATOLOGICA

Next generation sequencing redefines a triple negative essential thrombocythaemia as double‐positive with rare mutations on JAK 2  V617 and MPL W515 hotspots

(2019) Annaëlle Beucher et al.   BRITISH JOURNAL OF HAEMATOLOGY

Two activating mutations of MPL in triple‐negative myeloproliferative neoplasms

(2019) Juan Xie et al.   Cancer Medicine

Pegylated Interferon Alfa-2a for Polycythemia Vera or Essential Thrombocythemia Resistant or Intolerant to Hydroxyurea

(2019) Abdulraheem Yacoub et al.   BLOOD

JAK2 exon 12 mutation in myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis: Not an exclusive mutation to polycythaemia vera

(2019) Tadaaki Inano et al.   BRITISH JOURNAL OF HAEMATOLOGY

Essential thrombocytosis attributed to JAK2-T875N germline mutation

(2019) Makoto Yoshimitsu et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Bleeding signs due to acquired von Willebrand syndrome at diagnosis of chronic myeloid leukaemia in children

(2019) Ralf Knöfler et al.   BRITISH JOURNAL OF HAEMATOLOGY

Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation

(2018) Koichiro Maie et al.   ANNALS OF HEMATOLOGY

Inherited THP O mutation, with morphology resembling chronic myeloid leukaemia

(2018) James W. Murray et al.   BRITISH JOURNAL OF HAEMATOLOGY

Germline JAK2 L611S mutation in a child with thrombocytosis

(2018) Bernard Aral et al.   HAEMATOLOGICA

Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet

(2018) Tiziano Barbui et al.   LEUKEMIA

Germline JAK2 L611S mutation in a child with thrombocytosis

(2018) Bernard Aral et al.   HAEMATOLOGICA

Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management

(2018) Ayalew Tefferi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Leukemic transformation and second cancers in 3649 patients with high-risk essential thrombocythemia in the EXELS study

(2018) Gunnar Birgegård et al.   LEUKEMIA RESEARCH

Treatment of essential thrombocythemia in Europe: a prospective long-term observational study of 3649 high-risk patients in the Evaluation of Anagrelide Efficacy and Long-term Safety study

(2017) Gunnar Birgegård et al.   HAEMATOLOGICA

Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms

(2017) Yu-Cheng Chang et al.   MEDICAL ONCOLOGY

A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH

(2017) Teresa Sadras et al.   Cancer Genetics

Treatment of essential thrombocythemia in Europe: a prospective long-term observational study of 3649 high-risk patients in the Evaluation of Anagrelide Efficacy and Long-term Safety study

(2017) Gunnar Birgegård et al.   HAEMATOLOGICA

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

(2017) Christine Bellanné-Chantelot et al.   Frontiers in Endocrinology

Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management

(2016) Ayalew Tefferi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis

(2016) Nya D. Nelson et al.   PEDIATRIC BLOOD & CANCER

The Use of Anagrelide in Myeloproliferative Neoplasms, with Focus on Essential Thrombocythemia

(2016) Gunnar Birgegård   Current Hematologic Malignancy Reports

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

(2015) J. D. Milosevic Feenstra et al.   BLOOD

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

(2015) X. Cabagnols et al.   BLOOD

Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort

(2015) Maria L. Randi et al.   BRITISH JOURNAL OF HAEMATOLOGY

Age- and Sex-Specific Dynamics in 22 Hematologic and Biochemical Analytes from Birth to Adolescence

(2015) J. Zierk et al.   CLINICAL CHEMISTRY

Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias

(2015) Maite E. Houwing et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Myeloproliferative Neoplasms

(2015) Ayalew Tefferi et al.   JAMA Oncology

How common are myeloproliferative neoplasms? A systematic review and meta-analysis

(2014) Glen J. Titmarsh et al.   AMERICAN JOURNAL OF HEMATOLOGY

A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis

(2014) S. L. Etheridge et al.   BLOOD

The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis

(2014) C. Stockklausner et al.   BLOOD

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

(2014) C. Marty et al.   BLOOD

Primary thrombocytosis in children

(2014) N. Kucine et al.   HAEMATOLOGICA

Back to Biology: New Insights on Inheritance in Myeloproliferative Disorders

(2014) Evan M. Braunstein et al.   Current Hematologic Malignancy Reports

A novel germlineJAK2mutation in familial myeloproliferative neoplasms

(2013) Elisa Rumi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

(2013) M. J. Dasouki et al.   BLOOD

Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial

(2013) H. Gisslinger et al.   BLOOD

Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment

(2013) Rongfeng Fu et al.   BRITISH JOURNAL OF HAEMATOLOGY

What the Infectious Disease Physician Needs to Know About Pegylated Interferon and Ribavirin

(2013) N. Gara et al.   CLINICAL INFECTIOUS DISEASES

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

(2013) J. Nangalia et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms

(2013) Thorsten Klampfl et al.   NEW ENGLAND JOURNAL OF MEDICINE

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

(2013) Holger Cario et al.   PEDIATRIC BLOOD & CANCER

A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia

(2012) Michele P. Lambert et al.   AMERICAN JOURNAL OF HEMATOLOGY

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects

(2012) Clemens Stockklausner et al.   ANNALS OF HEMATOLOGY

Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome

(2012) F. Giona et al.   BLOOD

Antithrombotic Therapy in Neonates and Children

(2012) Paul Monagle et al.   CHEST

How to manage children and young adults with myeloproliferative neoplasms

(2012) T Barbui   LEUKEMIA

GermlineJAK2Mutation in a Family with Hereditary Thrombocytosis

(2012) Adam J. Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

(2011) B. Zhang et al.   BLOOD

Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients

(2011) A. Carobbio et al.   BLOOD

Advances in understanding the pathogenesis of familial thrombocythaemia

(2011) Luciana Teofili et al.   BRITISH JOURNAL OF HAEMATOLOGY

MPL Mutation Profile in JAK2 Mutation-negative Patients With Myeloproliferative Disorders

(2011) Wanlong Ma et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms

(2011) D. Pietra et al.   HAEMATOLOGICA

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

(2011) A. J. Walne et al.   HAEMATOLOGICA

Philadelphia-Negative Classical Myeloproliferative Neoplasms: Critical Concepts and Management Recommendations From European LeukemiaNet

(2011) Tiziano Barbui et al.   JOURNAL OF CLINICAL ONCOLOGY

Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms

(2010) S. T. Oh et al.   BLOOD

Hereditary thrombocytosis not as innocent as thought? Development into acute leukemia and myelofibrosis

(2010) H. L. A. Posthuma et al.   BLOOD

Guideline for investigation and management of adults and children presenting with a thrombocytosis

(2010) Claire N. Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms

(2010) D. Olcaydu et al.   HAEMATOLOGICA

IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis

(2010) A Tefferi et al.   LEUKEMIA

Deletions of the transcription factor Ikaros in myeloproliferative neoplasms

(2010) R Jäger et al.   LEUKEMIA

Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms

(2009) C. Saint-Martin et al.   BLOOD

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

(2009) C. Graziano et al.   BLOOD

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms

(2009) F. H. Grand et al.   BLOOD

Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis

(2009) L. Teofili et al.   HAEMATOLOGICA

Pegylated Interferon Alfa-2a Yields High Rates of Hematologic and Molecular Response in Patients With Advanced Essential Thrombocythemia and Polycythemia Vera

(2009) Alfonso Quintás-Cardama et al.   JOURNAL OF CLINICAL ONCOLOGY

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA

A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms

(2009) Outi Kilpivaara et al.   NATURE GENETICS

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

(2009) Amy V Jones et al.   NATURE GENETICS

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

(2008) P. A. Beer et al.   BLOOD

Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden

(2008) O. Landgren et al.   BLOOD

Activating mutations in human acute megakaryoblastic leukemia

(2008) S. Malinge et al.   BLOOD

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in theMPLgene

(2008) El-Harith Abdelghaffar El-Harith et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular basis of thrombocytosis

(2008) M. Cazzola   HAEMATOLOGICA

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

(2008) K. Liu et al.   HAEMATOLOGICA

Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis

(2008) S. Schnittger et al.   HAEMATOLOGICA

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

(2008) Dani Bercovich et al.   LANCET