دورية أكاديمية
RNA Sequencing Analysis for the Identification of a PCM1/PDGFRB Fusion Gene Responsive to Imatinib
| العنوان: | RNA Sequencing Analysis for the Identification of a PCM1/PDGFRB Fusion Gene Responsive to Imatinib |
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| المؤلفون: | Such, Esperanza, Liquori, Alessandro, Mora, Elvira, Marco-Ayala, Javier, Avetisyan, Gayane, Regadera, Anabel, Ibañez, Fernanda, Panadero, Joaquin, Senent, Leonor, Llop, Marta, Díaz, Alvaro, Vicente, Ana, Luna, Irene, Ibáñez, Mariam, Barragán, Eva, Sanz, Miguel A., Sanz, Guillermo, Communidad Valenciana, Cervera, José |
| المصدر: | Acta Haematologica ; volume 142, issue 2, page 92-97 ; ISSN 0001-5792 1421-9662 |
| بيانات النشر: | S. Karger AG |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Hematology, General Medicine |
| الوصف: | The platelet-derived growth factor receptor β (PDGFRB) gene translocations lead to a spectrum of chronic myeloid neoplasms, frequently associated with eosinophilia. Clinical heterogeneity is associated with a molecular one. Here, we report a novel case of a patient harboring a t(5;8)(q33;p22) translocation, resulting in the PCM1/PDGFRB fusion. Conventional cytogenetics and RNA sequencing were performed to identify the chromosomes and the genes involved in the rearrangement, respectively. This study shows that the combination of different strategies is pivotal to fine-tune the diagnosis and the clinical management of the patient. After 1 year of treatment with imatinib, the patient achieves hematological and molecular remission. We present an attractive strategy to identify novel and/or cryptic fusions, which will be relevant for clinicians dealing with the diagnosis of the patients with myelodysplastic syndrome/myeloproliferative diseases with atypical manifestations. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1159/000497348 |
| الإتاحة: | https://doi.org/10.1159/000497348Test https://www.karger.com/Article/Pdf/497348Test |
| حقوق: | https://www.karger.com/Services/SiteLicensesTest ; https://www.karger.com/Services/SiteLicensesTest |
| رقم الانضمام: | edsbas.2A892DC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1159/000497348 |
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