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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/25745

Title: Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics
Authors: Maes, Brigitte
Willemse, J.
Broekmans, A.
Smets, R.
Cruys, B.
Put, N.
Madoe, V.
Janssen, M.
Soepenberg, O.
Bries, G.
Vrelust, I.
Achten, Ruth
Van Pelt, K.
Buve, K.
Theunissen, K.
Peeters, V.
Froyen, Guy
Issue Date: 2017
Publisher: WILEY
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.
URI: http://hdl.handle.net/1942/25745
DOI: 10.1111/ijlh.12709
ISI #: 000415143100015
ISSN: 1751-5521
Category: A1
Type: Journal Contribution
Appears in Collections: Research publications

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