Publicaciones científicas

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design

24-ene-2020 | Revista: PLoS One

Aguilera-Diaz A (1,2), Vazquez I (2,3), Ariceta B (3), Mañú A (3), Blasco-Iturri Z (3), Palomino-Echeverría S (3), Larrayoz MJ (2,3), García-Sanz R (4), Prieto-Conde MI (4), Del Carmen Chillón M (4), Alfonso-Pierola A (5), Prosper F (1,2,5), Fernandez-Mercado M (1,3,6), Calasanz MJ (2,3,7).

(1) Advanced Genomics Laboratory, Hemato-Oncology, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.
(2) Navarra Institute for Health Research (IdiSNA), Pamplona, Spain.
(3) Hematological Diseases Laboratory, CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain.
(4) Hematology Department, University Hospital of Salamanca, IBSAL and CIBERONC, Salamanca, Spain.
(5) Hematology Department, Clinica Universidad de Navarra (CUN), Pamplona, Spain.
(6) Biomedical Engineering Department, School of Engineering, University of Navarra, San Sebastian, Spain.
(7) Scientific Co-Director of CIMA LAB Diagnostics, CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain.


The diagnosis of myeloid neoplasms (MN) has significantly evolved through the last few decades. Next Generation Sequencing (NGS) is gradually becoming an essential tool to help clinicians with disease management. To this end, most specialized genetic laboratories have implemented NGS panels targeting a number of different genes relevant to MN.

The aim of the present study is to evaluate the performance of four different targeted NGS gene panels based on their technical features and clinical utility

 A total of 32 patient bone marrow samples were accrued and sequenced with 3 commercially available panels and 1 custom panel. Variants were classified by two geneticists based on their clinical relevance in MN. There was a difference in panel's depth of coverage. We found 11 discordant clinically relevant variants between panels, with a trend to miss long insertions.

Our data show that there is a high risk of finding different mutations depending on the panel of choice, due both to the panel design and the data analysis method. Of note, CEBPA, CALR and FLT3 genes, remains challenging the use of NGS for diagnosis of MN in compliance with current guidelines.

Therefore, conventional molecular testing might need to be kept in place for the correct diagnosis of MN for now.

CITA DEL ARTÍCULO  PLoS One. 2020 Jan 24;15(1):e0227986. doi: 10.1371/journal.pone.0227986. eCollection 2020

SOLICITE