التفاصيل البيبلوغرافية
| العنوان: |
NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial |
| المؤلفون: |
Rosa Rosa, Juan Manuel, Cuenca, Isabel, Medina, Alejandro, Vázquez, Iria, Sánchez de la Cruz, Andrea, Buenache, Natalia, Sánchez, Ricardo, Jiménez, Cristina, Rosiñol, Laura, Gutiérrez, Norma C., Ruiz Heredia, Yanira, Barrio, Santiago, Oriol, Albert, Martin Ramos, Maria Luisa, Blanchard, María Jesús, Ayala, Rosa, Ríos Tamayo, Rafael, Sureda, Anna, Hernández, Miguel Teodoro, Rubia, Javier de la, Alkorta Aranburu, Gorka, Agirre, Xabier, Bladé, J. (Joan), Mateos, María Victoria, Lahuerta, Juan José, San Miguel, Jesús F., Calasanz, María José, Garcia Sanz, Ramon, Martínez López, Joaquín |
| المصدر: |
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
| بيانات النشر: |
MDPI AG |
| سنة النشر: |
2022 |
| المجموعة: |
Dipòsit Digital de la Universitat de Barcelona |
| مصطلحات موضوعية: |
Citogenètica, Mieloma múltiple, Cytogenetics, Multiple myeloma |
| الوصف: |
Simple Summary Multiple Myeloma (MM) is considered an incurable chronic disease, which prognosis depends on the presence of different genomic alterations. To accomplish a complete molecular diagnosis in a single essay, we have designed and validated a capture-based NGS approach to reliably identify pathogenic mutations (SNVs and indels), genomic alterations (CNVs and chromosomic translocations), and IGH rearrangements. We have observed a good correlation of the results obtained using our capture panel with data obtained by both FISH and WES techniques. In this study, the molecular classification performed using our approach was significantly associated with the stratification and outcome of MM patients. Additionally, this panel has been proven to detect specific IGH rearrangements that could be used as biomarkers in patient follow-ups through minimal residual disease (MRD) assays. In conclusion, we think that MM patients could benefit from the use of this capture-based NGS approach with a more accurate, single-essay molecular diagnosis. Next-generation sequencing (NGS) has greatly improved our ability to detect the genomic aberrations occurring in multiple myeloma (MM); however, its transfer to routine clinical labs and its validation in clinical trials remains to be established. We designed a capture-based NGS targeted panel to identify, in a single assay, known genetic alterations for the prognostic stratification of MM. The NGS panel was designed for the simultaneous study of single nucleotide and copy number variations, insertions and deletions, chromosomal translocations and V(D)J rearrangements. The panel was validated using a cohort of 149 MM patients enrolled in the GEM2012MENOS65 clinical trial. The results showed great global accuracy, with positive and negative predictive values close to 90% when compared with available data from fluorescence in situ hybridization and whole-exome sequencing. While the treatments used in the clinical trial showed high efficacy, patients defined as high-risk by the ... |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
13 p.; application/pdf |
| اللغة: |
English |
| تدمد: |
2072-6694 |
| Relation: |
Reproducció del document publicat a: https://doi.org/10.3390/cancers14205169; Cancers, 2022, vol. 14, num. 20; https://doi.org/10.3390/cancers14205169; http://hdl.handle.net/2445/190782; 9331491 |
| الاتاحة: |
http://hdl.handle.net/2445/190782 |
| Rights: |
cc by (c) Rosa Rosa, Juan Manuel et al, 2022 ; http://creativecommons.org/licenses/by/3.0/es/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.D0DB4B17 |
| قاعدة البيانات: |
BASE |
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