Scientific publications

Assessment of Minimal Residual Disease by Next Generation Sequencing in Peripheral Blood as a Complementary Tool for Personalized Transplant Monitoring in Myeloid Neoplasms

Nov 25, 2020 | Magazine: Journal of Clinical Medicine

Paula Aguirre-Ruiz  1 , Beñat Ariceta  1   2 , María Cruz Viguria  2   3 , María Teresa Zudaire  2   3 , Zuriñe Blasco-Iturri  1 , Patricia Arnedo  3 , Almudena Aguilera-Diaz  2   4 , Axier Jauregui  3 , Amagoia Mañú  1   2 , Felipe Prosper  2   4   5 , María Carmen Mateos  2   3 , Marta Fernández-Mercado  1   2   4 , María José Larráyoz  1   2 , Margarita Redondo  2   3 , María José Calasanz  1   2 , Iria Vázquez  1   2 , Eva Bandrés  2   3


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 detected.

CITATION  J Clin Med. 2020 Nov 25;9(12):3818.  doi: 10.3390/jcm9123818

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