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

Autoři: Almudena Aguilera-Diaz aff001;  Iria Vazquez aff002;  Beñat Ariceta aff003;  Amagoia Mañú aff003;  Zuriñe Blasco-Iturri aff003;  Sara Palomino-Echeverría aff003;  María José Larrayoz aff002;  Ramón García-Sanz aff004;  María Isabel Prieto-Conde aff004;  María del Carmen Chillón aff004;  Ana Alfonso-Pierola aff005;  Felipe Prosper aff001;  Marta Fernandez-Mercado aff001;  María José Calasanz aff002
Působiště autorů: Advanced Genomics Laboratory, Hemato-Oncology, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain aff001;  Navarra Institute for Health Research (IdiSNA), Pamplona, Spain aff002;  Hematological Diseases Laboratory, CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain aff003;  Hematology Department, University Hospital of Salamanca, IBSAL and CIBERONC, Salamanca, Spain aff004;  Hematology Department, Clinica Universidad de Navarra (CUN), Pamplona, Spain aff005;  Biomedical Engineering Department, School of Engineering, University of Navarra, San Sebastian, Spain aff006;  Scientific Co-Director of CIMA LAB Diagnostics, CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain aff007
Vyšlo v časopise: PLoS ONE 15(1)
Kategorie: Research Article


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.

Klíčová slova:

Acute myeloid leukemia – Cancer detection and diagnosis – Gene sequencing – Genomic libraries – Human genetics – Mutation detection – Next-generation sequencing – Prognosis


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