domingo, 30 de julio de 2017

Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics. - PubMed - NCBI

Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics. - PubMed - NCBI



 2017 Jul 19. doi: 10.1111/ijlh.12709. [Epub ahead of print]

Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics.

Abstract

INTRODUCTION:

Detection of mutations in patients with myeloid neoplasms (MNs) has shown great potential for diagnostic and prognostic purposes. Next-generation sequencing (NGS) is currently implemented for the diagnostic profiling of the four major MN subgroups.

METHODS:

First, we validated the targeted NGS approach using the TruSight Myeloid panel. Next, we screened 287 patients with a clinical suspicion of MN and 61 follow-up patients with documented MN.

RESULTS:

Validation of the NGS workflow resulted in maximal precision, accuracy, sensitivity, and specificity for gene variants with an allele frequency of at least 5% and a minimal read depth of 300. In our diagnostic screen, we identified at least one somatic mutation in 89% of patients with proven MN. Of the 155 newly diagnosed MN cases, 126 (81%) showed at least one mutation, confirming clonality. Moreover, the co-occurrence of mutated genes in the different MN subentities facilitates their classification and justifies the diagnostic use of a pan-myeloid panel. Furthermore, several of these mutations provide additional prognostic information independently of traditional prognostic scoring systems.

CONCLUSION:

Pan-myeloid targeted NGS fits elegantly in the routine diagnostic approach of MNs allowing for an improved diagnosis, subclassification, and prognosis.

KEYWORDS:

clinical validation; molecular diagnostics; myeloid neoplasm; targeted next-generation sequencing

PMID:
 
28722833
 
DOI:
 
10.1111/ijlh.12709

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