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Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Vincent PillonelDarius JuskeviciusMichel BihlFrank StennerJörg P HalterStefan DirnhoferAlexandar Tzankov
Published in: Leukemia & lymphoma (2020)
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.
Keyphrases
  • risk assessment
  • clinical practice
  • healthcare
  • primary care
  • copy number
  • genome wide
  • pulmonary embolism
  • drug delivery
  • transcription factor
  • single cell
  • data analysis