ArticleThe Journal of molecular diagnostics : JMD2008
A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction.
Article in The Journal of molecular diagnostics : JMD, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 53 citations in OpenAlex.
- Trial
- The molecular management of classic myeloproliferative neoplasm.Journal of the Egyptian National Cancer Institute · 2025Review
- 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
- High prevalence of heparin induced thrombocytopenia with thrombosis among patients with essential thrombocytemia carrying V617F mutation.Journal of thrombosis and thrombolysis · 2018Article
- A portable microfluidic platform for rapid molecular diagnostic testing of patients with myeloproliferative neoplasms.Scientific reports · 2017Article
- Monitoring Minimal Residual Disease in the Myeloproliferative Neoplasms: Current Applications and Emerging Approaches.BioMed research international · 2016Review
- Calreticulin mutation-specific immunostaining in myeloproliferative neoplasms: pathogenetic insight and diagnostic value.Leukemia · 2014Article
- The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.Journal of hematology & oncology · 2014Article
- Detection of MPLW515L/K mutations and determination of allele frequencies with a single-tube PCR assay.PloS one · 2014Article
- 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
- Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia.Case reports in hematology · 2013Article
- Transformation of a chronic myeloproliferative neoplasm to acute myelogenous leukemia: does anything work?Current hematologic malignancy reports · 2012Review
- Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients.Leukemia · 2011Article
- Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.Bone marrow transplantation · 2010Article
- Frequency and clinical correlates of JAK2 46/1 (GGCC) haplotype in primary myelofibrosis.Leukemia · 2010Article
- Thrombocytosis and leukocytosis interaction in vascular complications of essential thrombocythemia.Blood · 2008Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. We have developed a real-time polymerase chain reaction assay for the detection and quantification of MPL mutations that is based on locked nucleic acid fluorescent probes. Mutational analysis was performed using DNA from granulocytes. Reference curves were obtained using cloned fragments of MPL containing either the wild-type or mutated sequence; the predicted sensitivity level was at least 0.1% mutant allele in a wild-type background. None of the 60 control subjects presented with a MPLW515L/K mutation. Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele. In one case, both the W515L and W515K alleles were detected by real-time polymerase chain reaction. By comparing results obtained with conventional sequencing, no erroneous genotype attribution using real-time polymerase chain reaction was found, whereas one patient considered wild type according to sequence analysis actually harbored a low W515L allele burden. This is a simple, sensitive, and cost-effective procedure for large-scale screening of the MPLW515L/K mutation in patients suspected to have a myeloproliferative disorder. It can also provide a quantitative estimate of mutant allele burden that might be useful for both patient prognosis and monitoring response to therapy.
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