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, E, Liquori, A, Mora, E, Marco-Ayala, J, Avetisyan, G, Regadera, A, Ibanez, F, Panadero, J, Senent, L, Llop, M, Diaz, A, Vicente, A, Luna, I, Ibanez, M, Barragan, E, Sanz, MA, Sanz, G, Cervera, J |
| المصدر: | ACTA HAEMATOLOGICA r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname |
| بيانات النشر: | S. Karger AG, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | PDGFRB, Imatinib, PCM1, Translocation, Myeloid neoplasm, RNA sequencing, Fusion |
| الوصف: | The platelet-derived growth factor receptor beta (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. |
| تدمد: | 0001-5792 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::a100c239c91c78782a9e87d3a40ab38fTest https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10867Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.RECOLECTA.....a100c239c91c78782a9e87d3a40ab38f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00015792 |
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