ArticleHaematologica2011
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
Article in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- JAK inhibitors and COVID-19.Journal for immunotherapy of cancer · 2022Pooled it
- Resolving diagnostic uncertainty in rare MPL and CALR variants: A practical framework for the haematology clinic.British journal of haematology · 2026Article
- Diagnosis- and Prognosis-Related Gene Alterations inInternational journal of molecular sciences · 2023Review
- Additional Genetic Alterations and Clonal Evolution of MPNs with Double Mutations on theHematology reports · 2023Article
- Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.Cancer medicine · 2023Article
- Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms.Blood · 2022Article
- MPL S505C enhances driver mutations at W515 in essential thrombocythemia.Blood cancer journal · 2021Article
- Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.Life (Basel, Switzerland) · 2021Review
- Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.Annals of hematology · 2021Review
- Review
- The Role of New Technologies in Myeloproliferative Neoplasms.Frontiers in oncology · 2019Review
- Mutation landscape in patients with myelofibrosis receiving ruxolitinib or hydroxyurea.Blood cancer journal · 2018Article
- Epigenetics in Myeloproliferative Neoplasms.Journal of cellular and molecular medicine · 2017Review
- Rethinking JAK2 inhibition: towards novel strategies of more specific and versatile Janus kinase inhibition.Leukemia · 2017Review
- The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin.Frontiers in endocrinology · 2017Review
- Blast-phase myeloproliferative neoplasms: risk factors and treatment approaches.Expert review of hematology · 2016Article
- Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms.Leukemia · 2016Article
- Article
- Article
- A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.BioMed research international · 2014Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characterize a subset of mutated patients. Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). High-resolution melt analysis identified abnormal patterns in all the MPL mutated cases, while direct sequencing did not detect the mutant MPL in one fifth of them. In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome.
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