Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.
Gene panel testing
diagnostic molecular pathology
lymphoma
next generation sequencing
Journal
Leukemia & lymphoma
ISSN: 1029-2403
Titre abrégé: Leuk Lymphoma
Pays: United States
ID NLM: 9007422
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
pubmed:
7
7
2020
medline:
28
4
2021
entrez:
7
7
2020
Statut:
ppublish
Résumé
Since 2016, a next-generation sequencing (NGS) panel targeting 68 genes frequently mutated in lymphoid malignancies is an accredited part of routine diagnostics at the Institute of Pathology in Basel, Switzerland. Here, we retrospectively evaluate the feasibility and utility of integrating this NGS platform into routine practice on 80 diagnostic cases of lymphoid proliferations. NGS analysis was useful in most instances, yielding a diagnostically, predictively and/or prognostically meaningful result. In 35 out of the 50 cases, in which conventional histopathological evaluation remained indecisive, molecular subtyping with the NGS panel was helpful to either confirm or support the favored diagnosis, enable a differential diagnosis, or seriously question a suspected diagnosis. A total of 61 actionable or potentially actionable mutations in 34 out of 80 cases that might have enabled patient selection for targeted therapies was detected. NGS panel analysis had implications for prognosis in all 15 cases interrogated for risk assessment.
Identifiants
pubmed: 32623938
doi: 10.1080/10428194.2020.1786560
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM