Assessment of minimal residual disease by next generation sequencing in peripheral blood as a complementary tool for personalized transplant monitoring in myeloid neoplasms

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dc.contributor.authorAguirre-Ruiz, Paula
dc.contributor.authorAriceta, Beñat
dc.contributor.authorViguria Alegría, María Cruz
dc.contributor.authorZudaire, María Teresa
dc.contributor.authorBlasco-Iturri, Zuriñe
dc.contributor.authorArnedo, Patricia
dc.contributor.authorAguilera-Diaz, Almudena
dc.contributor.authorJauregui, Axier
dc.contributor.authorMañú, Amagoia
dc.contributor.authorPrósper, Felipe
dc.contributor.authorMateos, María Carmen
dc.contributor.authorFernández-Mercado, Marta
dc.contributor.authorLarráyoz, María José
dc.contributor.authorRedondo, Margarita
dc.contributor.authorCalasanz, María José
dc.contributor.authorBandrés Elizalde, Eva
dc.contributor.authorVázquez Urio, Iria
dc.contributor.departmentCiencias de la Saludes_ES
dc.contributor.departmentOsasun Zientziakeu
dc.contributor.funderGobierno de Navarra / Nafarroako Gobernua
dc.date.accessioned2024-10-03T11:50:32Z
dc.date.available2024-10-03T11:50:32Z
dc.date.issued2020
dc.date.updated2024-10-03T11:39:37Z
dc.description.abstractPatients with myeloid neoplasms who relapsed after allogenic hematopoietic stem cell transplant (HSCT) have poor prognosis. Monitoring of chimerism and specific molecular markers as a surrogate measure of relapse is not always helpful; therefore, improved systems to detect early relapse are needed. We hypothesized that the use of next generation sequencing (NGS) could be a suitable approach for personalized follow-up post-HSCT. To validate our hypothesis, we analyzed by NGS, a retrospective set of peripheral blood (PB) DNA samples previously evaluated by high-sensitive quantitative PCR analysis using insertion/deletion polymorphisms (indel-qPCR) chimerism engraftment. Post-HCST allelic burdens assessed by NGS and chimerism status showed a similar time-course pattern. At time of clinical relapse in 8/12 patients, we detected positive NGS-based minimal residual disease (NGS-MRD). Importantly, in 6/8 patients, we were able to detect NGS-MRD at time points collected prior to clinical relapse. We also confirmed the disappearance of post-HCST allelic burden in non-relapsed patients, indicating true clinical specificity. This study highlights the clinical utility of NGS-based post-HCST monitoring in myeloid neoplasia as a complementary specific analysis to high-sensitive engraftment testing. Overall, NGS-MRD testing in PB is widely applicable for the evaluation of patients following HSCT and highly valuable to personalized early treatment intervention when mixed chimerism is detected.en
dc.description.sponsorshipThis work was funded by the Government of Navarra, Department of Industry, Energy and Innovation (Project DIANA, 0011-1411-2017-000028); and supported by CIMA LAB diagnostics research program. F.P. acknowledges funding from Instituto de Salud Carlos III (ISCIII) PI16/02024, PI17/00701 and PI19/01352 (Co-financed with European Union FEDER funds), CIBERONC CB16/12/00489 (Co-financed with European Union FEDER funds), MINECO Explora (RTHALMY), Departamento de Salud-Gobierno de Navarra 40/2016 and Fundación Ramón Areces (PREMAMM).
dc.format.mimetypeapplication/pdfen
dc.identifier.citationAguirre-Ruiz, P., Ariceta, B., Viguria, M. C., Zudaire, M. T., Blasco-Iturri, Z., Arnedo, P., Aguilera-Diaz, A., Jauregui, A., Mañú, A., Prosper, F., Mateos, M. C., Fernández-Mercado, M., Larráyoz, M. J., Redondo, M., Calasanz, M. J., Vázquez, I., Bandrés, E. (2020). Assessment of minimal residual disease by next generation sequencing in peripheral blood as a complementary tool for personalized transplant monitoring in myeloid neoplasms. Journal of Clinical Medicine, 9(12), 1-20. https://doi.org/10.3390/jcm9123818.
dc.identifier.doi10.3390/jcm9123818
dc.identifier.issn2077-0383
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/51962
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofJournal of Clinical Medicine (2020), vol. 9, núm.12
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO//PI16%2F02024/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00701/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI19%2F01352/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO//CB16%2F12%2F00489/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/Gobierno de Navarra//0011-1411-2017-000028/
dc.relation.projectIDinfo:eu-repo/grantAgreement/Gobierno de Navarra//40%2F2016/
dc.relation.publisherversionhttps://doi.org/10.3390/jcm9123818
dc.rights© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license.
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectNext generation sequencing (NGS)en
dc.subjectChimerismen
dc.subjectMyeloid leukemiaen
dc.subjectHematopoietic stem cell transplant (HSCT)en
dc.subjectMinimal residual disease (MRD)en
dc.titleAssessment of minimal residual disease by next generation sequencing in peripheral blood as a complementary tool for personalized transplant monitoring in myeloid neoplasmsen
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dspace.entity.typePublication
relation.isAuthorOfPublicatione305561a-4520-434d-a120-7b71f9925e52
relation.isAuthorOfPublicationd2b52d9e-e5c2-428f-825e-91fcd49923f0
relation.isAuthorOfPublication3762d67a-d18f-4f29-8eee-8b4c20793cd8
relation.isAuthorOfPublication.latestForDiscoveryd2b52d9e-e5c2-428f-825e-91fcd49923f0

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