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Targeted next‐generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics
Author(s) -
Maes B.,
Willemse J.,
Broekmans A.,
Smets R.,
Cruys B.,
Put N.,
Madoe V.,
Janssen M.,
Soepenberg O.,
Bries G.,
Vrelust I.,
Achten R.,
Van Pelt K.,
Buvé K.,
Theunissen K.,
Peeters V.,
Froyen G.
Publication year - 2017
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12709
Subject(s) - myeloid , dna sequencing , medicine , oncology , computational biology , gene , bioinformatics , biology , genetics
Abstract Introduction Detection of mutations in patients with myeloid neoplasms ( MN s) 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 MN s allowing for an improved diagnosis, subclassification, and prognosis.