ArticleBlood2016
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 1 of them a synthesis that pooled it.
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Who cites it
134 citing papers in PubMed, 1 synthesis or guideline pooled it, 272 citations in OpenAlex.
- Myeloproliferative Neoplasms, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology.Journal of the National Comprehensive Cancer Network : JNCCN · 2016Guideline
- Genomic profiling of a randomized trial of interferon-α vs hydroxyurea in MPN reveals mutation-specific responses.Blood advances · 2022Trial
- Targeted Next-Generation Sequencing of JAK2, CALR, and MPL in 10 326 Patients With Suspected Myeloproliferative Neoplasm.American journal of hematology · 2026Article
- Mutational profile and cardiovascular risk factors impact prognosis in triple-negative essential thrombocythemia.Leukemia · 2026Article
- Inflammatory and Immune Microenvironment in Myeloproliferative Neoplasms: Pathogenic Mechanisms and Therapeutic Opportunities.Cancers · 2026Review
- Genomic insights transform diagnosis, prognosis, and therapy in BCR::ABL1-negative myeloproliferative neoplasms.International journal of hematology · 2026Review
- Physiological MplW514L expression in hematopoietic stem cell causes an essential thrombocythemia and progressive myelofibrosis.The Journal of clinical investigation · 2026Article
- Novel germlineChinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2026Article
- Sabotaged Integral HSC Heterogeneity Underlies Essential Thrombocythemia Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Triple-negative primary myelofibrosis: a comparative analysis of phenotype, genotype, and outcome.Blood cancer journal · 2026Article
- Leukocytosis and aLeukemia research reports · 2026Article
- Genomic profile helps to predict the clonal evolution and outcome of BCR-ABL-negative myeloproliferative neoplasms.Translational oncology · 2025Article
- Targeted Therapies in Myelofibrosis: Present Landscape, Ongoing Studies, and Future Perspectives.American journal of hematology · 2025Review
- Basophilia and eosinophilia in polycythemia vera and essential thrombocythemia: clinical, genotype, and prognostic correlates.Annals of hematology · 2025Article
- Current Advances in the Diagnosis and Treatment of Major Myeloproliferative Neoplasms.Cancers · 2025Review
- Article
- Polycythaemia vera.Nature reviews. Disease primers · 2025Review
- JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.Blood advances · 2025Article
- Unraveling the germline inheritance of theHaematologica · 2025Article
- Can molecular patterns help to classify overlapping entities in myeloid neoplasms?Histopathology · 2025Review
74 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Essential thrombocythemia (ET) and primary myelofibrosis (PMF) are chronic diseases characterized by clonal hematopoiesis and hyperproliferation of terminally differentiated myeloid cells. The disease is driven by somatic mutations in exon 9 of CALR or exon 10 of MPL or JAK2-V617F in >90% of the cases, whereas the remaining cases are termed "triple negative." We aimed to identify the disease-causing mutations in the triple-negative cases of ET and PMF by applying whole-exome sequencing (WES) on paired tumor and control samples from 8 patients. We found evidence of clonal hematopoiesis in 5 of 8 studied cases based on clonality analysis and presence of somatic genetic aberrations. WES identified somatic mutations in 3 of 8 cases. We did not detect any novel recurrent somatic mutations. In 3 patients with clonal hematopoiesis analyzed by WES, we identified a somatic MPL-S204P, a germline MPL-V285E mutation, and a germline JAK2-G571S variant. We performed Sanger sequencing of the entire coding region of MPL in 62, and of JAK2 in 49 additional triple-negative cases of ET or PMF. New somatic (T119I, S204F, E230G, Y591D) and 1 germline (R321W) MPL mutation were detected. All of the identified MPL mutations were gain-of-function when analyzed in functional assays. JAK2 variants were identified in 5 of 57 triple-negative cases analyzed by WES and Sanger sequencing combined. We could demonstrate that JAK2-V625F and JAK2-F556V are gain-of-function mutations. Our results suggest that triple-negative cases of ET and PMF do not represent a homogenous disease entity. Cases with polyclonal hematopoiesis might represent hereditary disorders.
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