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|Title: ||Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics|
|Authors: ||Maes, Brigitte|
Van Pelt, K.
|Issue Date: ||2017|
|Citation: ||INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 39(6), p. 604-612|
|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.|
|Notes: ||[Maes, B.; Willemse, J.; Broekmans, A.; Smets, R.; Cruys, B.; Peeters, V.; Froyen, G.] Jessa Ziekenhuis, Dept Clin Biol, Hasselt, Belgium. [Willemse, J.] AZ Turnhout, Dept Clin Biol, Turnhout, Belgium. [Put, N.; Madoe, V.; Buve, K.; Theunissen, K.] Jessa Ziekenhuis, Dept Hematol, Hasselt, Belgium. [Janssen, M.] Ziekenhuis Oost Limburg, Dept Hematol, Genk, Belgium. [Soepenberg, O.] Mariaziekenhuis Noord Limburg, Dept Hematol, Overpelt, Belgium. [Bries, G.; Vrelust, I.] AZ Turnhout, Dept Hematol, Turnhout, Belgium. [Achten, R.] Jessa Ziekenhuis, Dept Pathol, Hasselt, Belgium. [Van Pelt, K.] Ziekenhuis Oost Limburg, Dept Clin Biol, Genk, Belgium.|
|ISI #: ||000415143100015|
|Type: ||Journal Contribution|
|Appears in Collections: ||Research publications|
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