ArticleHaematologica2010
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis.
Article in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 81 citations in OpenAlex.
- Case Report: Co-existence ofFrontiers in oncology · 2026Article
- Long read nanopore DNA sequencing with adaptive sampling to identify tyrosine kinase fusion genes.Leukemia · 2026Article
- Novel BMP2K::PDGFRA fusion in an unusual myeloid/lymphoid neoplasm with eosinophilia.Journal of hematopathology · 2025Article
- A novelHaematologica · 2023Article
- ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes.Orphanet journal of rare diseases · 2020Article
- Detection ofIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2019Article
- PATRI, a Genomics Data Integration Tool for Biomarker Discovery.BioMed research international · 2018Article
- A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia.Leukemia research reports · 2018Article
- Cytogenetically cryptic ZMYM2-FLT3 and DIAPH1-PDGFRB gene fusions in myeloid neoplasms with eosinophilia.Leukemia · 2017Article
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- PDGFRᵝ-Rearranged Myeloid Neoplasm with Marked Eosinophilia in a 37-Year-Old Man; And a Literature Review.The American journal of case reports · 2017Review
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- Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature.Case reports in medicine · 2016Article
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- Review of current classification, molecular alterations, and tyrosine kinase inhibitor therapies in myeloproliferative disorders with hypereosinophilia.Journal of blood medicine · 2013Article
- Article
- Tyrosine kinase gene fusions in cancer: translating mechanisms into targeted therapies.Journal of cellular and molecular medicine · 2012Review
- Platelet-derived growth factors and their receptors in normal and malignant hematopoiesis.American journal of blood research · 2012Article
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Authors and funding
14 authors at 8 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints. DESIGN AND
methodsWe established a generic quantitative reverse transcriptase polymerase chain reaction to detect overexpression of the 3'-regions of PDGFRA or PDGFRB as a possible indicator of an underlying fusion.
resultsAt diagnosis, all patients with known fusion genes involving PDGFRA (n=5; 51 patients) or PDGFRB (n=5; 7 patients) showed significantly increased normalized expression levels compared to 191 patients with fusion gene-negative eosinophilia or healthy individuals (PDGFRA/ABL: 0.73 versus 0.0066 versus 0.0064, P<0.0001; PDGFRB/ABL: 196 versus 3.8 versus 5.85, P<0.0001). The sensitivity and specificity of the activation screening test were, respectively, 100% and 88.4% for PDGFRA and 100% and 94% for PDGFRB. Furthermore, significant overexpression of PDGFRB was found in a patient with an eosinophilia-associated myeloproliferative neoplasm with uninformative cytogenetics and an excellent response to imatinib. Subsequently, a new SART3-PDGFRB fusion gene was identified by 5'-rapid amplification of cDNA ends polymerase chain reaction (5'-RACE-PCR).
conclusionsQuantitative reverse transcriptase polymerase chain reaction analysis is a simple and useful adjunct to standard diagnostic assays to detect clinically significant overexpression of PDGFRA and PDGFRB in eosinophilia-associated myeloproliferative neoplasms or related disorders.
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