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
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
Abstract
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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