التفاصيل البيبلوغرافية
| العنوان: |
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms |
| المؤلفون: |
Liquori, Alessandro, Lesende, Iván, Palomo Sanchís, Laura, Avetisyan, Gayane, Ibáñez, Mariam, González-Romero, Elisa, Boluda-Navarro, Mireia, Morote-Faubel, Mireya, Garcia-Ruiz, Cristian, Martinez-Valiente, Cristina, Santiago-Balsera, Marta, Gomez-Seguí, Inés, Sanjuan-Pla, Alejandra, Sanz, Miguel A., Sanz, Guillermo, Sole, F., Such, Esperanza, Cervera, José, Universitat Autònoma de Barcelona |
| سنة النشر: |
2021 |
| المجموعة: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| مصطلحات موضوعية: |
Myelodysplastic syndromes, Cytogenetics, Next-generation sequencing, Myeloid neoplasm, SNP array, Karyotype |
| الوصف: |
Chromosomal abnormalities and somatic mutations are found in patients with myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in around 50-80% of cases. The identification of these alterations is important for the accurate diagnosis and prognostic classification of these patients. Often, an apparently normal or failed karyotype might lead to an inadequate estimation of the prognostic risk, and several strategies should be combined to solve these cases. The aim of this study was to introduce a novel next-generation sequencing (NGS)-based strategy for the simultaneous detection of all the clinically relevant genetic alterations associated with these disorders. We validated this approach on a large cohort of patients by comparing our findings with those obtained with standard-of-care methods (i.e., karyotype and SNP-arrays). We show that our platform represents a significant improvement on current strategies in defining diagnosis and risk stratification of patients with MDS and myeloid-related disorders. Myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms are clonal disorders that share most of their cytogenetic and molecular alterations. Despite the increased knowledge of the prognostic importance of genetics in these malignancies, next-generation sequencing (NGS) has not been incorporated into clinical practice in a validated manner, and the conventional karyotype remains mandatory in the evaluation of suspected cases. However, non-informative cytogenetics might lead to an inadequate estimation of the prognostic risk. Here, we present a novel targeted NGS-based assay for the simultaneous detection of all the clinically relevant genetic alterations associated with these disorders. We validated this platform in a large cohort of patients by performing a one-to-one comparison with the lesions from karyotype and single-nucleotide polymorphism (SNP) arrays. Our strategy demonstrated an approximately 97% concordance with standard clinical assays, ... |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
Ministerio de Economía y Competitividad PI16/01113; Ministerio de Economía y Competitividad PI16/00665; Instituto de Salud Carlos III PI17/0575; Instituto de Salud Carlos III PI18/1472; Instituto de Salud Carlos III PI19/00812; Ministerio de Educación, Cultura y Deporte GV/2019/084; Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR288; Cancers; Vol. 13 (april 2021); https://ddd.uab.cat/record/255507Test; urn:10.3390/cancers13081947; urn:oai:ddd.uab.cat:255507; urn:pmcid:PMC8072643; urn:pmc-uid:8072643; urn:oai:pubmedcentral.nih.gov:8072643; urn:pmid:33919541 |
| الإتاحة: |
https://ddd.uab.cat/record/255507Test |
| حقوق: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.A725F1F3 |
| قاعدة البيانات: |
BASE |
