Bandrés Elizalde, Eva
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Bandrés Elizalde
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Eva
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Ciencias de la Salud
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Publication Open Access Assessment of minimal residual disease by next generation sequencing in peripheral blood as a complementary tool for personalized transplant monitoring in myeloid neoplasms(MDPI, 2020) Aguirre-Ruiz, Paula; Ariceta, Beñat; Viguria Alegría, María Cruz; Zudaire, María Teresa; Blasco-Iturri, Zuriñe; Arnedo, Patricia; Aguilera-Diaz, Almudena; Jauregui, Axier; Mañú, Amagoia; Prósper, Felipe; Mateos, María Carmen; Fernández-Mercado, Marta; Larráyoz, María José; Redondo, Margarita; Calasanz, María José; Bandrés Elizalde, Eva; Vázquez Urio, Iria; Ciencias de la Salud; Osasun Zientziak; Gobierno de Navarra / Nafarroako GobernuaPatients 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.