Optimization criteria for ordering myeloid neoplasm next‐generation sequencing

Introduction Myeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next‐generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:EJHaem 2024-12, Vol.5 (6), p.1236-1242
Hauptverfasser: Gisriel, Savanah D., Howe, John G., Tormey, Christopher A., Torres, Richard, Hager, Karl M., Rinder, Henry M., Siddon, Alexa J.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Introduction Myeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next‐generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still performed, the results may promote futile avenues of investigation, heighten patient distress, and increase cost. Methods We created criteria to approve NGS testing for MN (MN‐NGS) with the goal of maximizing actionable results. These actionable results include making a new MN diagnosis, characterizing a MN with baseline mutational status, and altering treatment plans. Approval criteria included clinical suspicion of new, relapsed, or worsening disease and end‐of‐induction chemotherapy. Cancellation criteria included the suspicion of non‐myeloid disease only, no suspicion of progression of a known MN, no evidence for recurrence post‐transplant, a diagnosis of chronic myeloid leukemia, and cases using blood when a concurrent bone marrow NGS is being performed. We applied these criteria to NGS tests ordered at our institution between August and December 2018 and determined whether any tests meeting our cancelation criteria yielded actionable results. Results Consecutive MN‐NGS orders (n = 174) were retrospectively categorized as appropriate (Group A, n = 115), inappropriate (Group B, n = 29), and appropriately canceled (group C, n = 30). Seventy‐five of the 115 (65%) Group A tests and none of the 29 (0%) Group B tests yielded actionable results (p 
ISSN:2688-6146
2688-6146
DOI:10.1002/jha2.1036