Detalle Publicación


Assessment of Minimal Residual Disease by next generation sequencing in peripheral blood as a complementary tool for personalized transplant monitoring in myeloid neoplasms

Autores: Aguirre, P.; Ariceta, B.; Viguria, M. C.; Zudaire, M. T.; Blasco, Z.; Arnedo, P.; Aguilera Díaz, Almudena; Jauregui, A.; Mañú Arruti, Amagoia; Prosper Cardoso, Felipe; Mateos, M. C.; Fernández Mercado, Marta; Larráyoz Ilundáin, María José; Redondo, M.; Calasanz Abinzano, María José; Vázquez Urio, Iria (Autor de correspondencia); Barragan, E.
ISSN: 2077-0383
Volumen: 9
Número: 12
Páginas: 3818
Fecha de publicación: 2020
Patients 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 detecte