ArticleAmerican journal of clinical pathology2017
Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis.
Article in American journal of clinical pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Prognostic value of ASXL1 mutations in patients with primary myelofibrosis and its relationship with clinical features: a meta-analysis.Annals of hematology · 2021Pooled it
- Beyond Hemoglobin: When and How to Work Up Possible Polycythemia Vera.Clinical medicine & research · 2020Trial
- Review
- ZRSR2 loss causes aberrant splicing in JAK2HemaSphere · 2025Article
- Molecular predictors of venous and arterial thrombotic events in patients with myelofibrosis.Annals of hematology · 2025Article
- Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.Cancers · 2024Review
- Exploring the Molecular Landscape of Myelofibrosis, with a Focus on Ras and Mitogen-Activated Protein (MAP) Kinase Signaling.Cancers · 2023Review
- Advances in management of primary myelofibrosis and polycythaemia vera: Implications in clinical practice.EJHaem · 2023Review
- JAK2V617F variant allele frequency, non-driver mutations, single-nucleotide variants and polycythemia vera outcome.Journal of cancer research and clinical oncology · 2023Article
- Gene mutation analysis using next-generation sequencing and its clinical significance in patients with myeloid neoplasm: A multi-center study from China.Cancer medicine · 2023Article
- Mutations, inflammation and phenotype of myeloproliferative neoplasms.Frontiers in oncology · 2023Review
- Molecular Pathogenesis of Myeloproliferative Neoplasms.Current hematologic malignancy reports · 2022Review
- TET2 Mutation May Be More Valuable in Predicting Thrombosis in ET Patients Compared to PV Patients: A Preliminary Report.Journal of clinical medicine · 2022Article
- Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.Journal of clinical laboratory analysis · 2022Article
- Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone withDiagnostics (Basel, Switzerland) · 2021Article
- The Prevalence ofCancers · 2021Review
- Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.International journal of molecular sciences · 2021Review
- Automated diagnostic support system with deep learning algorithms for distinction of Philadelphia chromosome-negative myeloproliferative neoplasms using peripheral blood specimen.Scientific reports · 2021Article
- A patient with a germline GATA2 mutation and primary myelofibrosis.Blood advances · 2021Article
- Molecular Pathogenesis and Treatment Perspectives for Hypereosinophilia and Hypereosinophilic Syndromes.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
objectivesTo compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET).
methodsNext-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared.
resultsMutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations. The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET. Differences were also found between patients with PMF and PV.
conclusionsPMF, PV, and ET show different mutational profiles, which may be helpful in resolving the differential diagnosis between MPNs. Due to the relatively small number of cases and variable testing over time, larger controlled studies are necessary to confirm the findings.
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Registered trials
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