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Comparative Study
. 2021 Feb;192(4):729-736.
doi: 10.1111/bjh.16891. Epub 2020 Jun 25.

Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome

Eri Kawata  1   2   3 , Alejandro Lazo-Langner  1   4 , Anargyros Xenocostas  1   4 , Cyrus C Hsia  1   4   5 , Kang Howson-Jan  1   4 , Uday Deotare  1   4 , Lalit Saini  1   4 , Ping Yang  5   6 , Robert Broadbent  6 , Michael Levy  5   7 , Christopher Howlett  5   7 , Alan Stuart  7 , Jennifer Kerkhof  7 , Stephanie Santos  7 , Hanxin Lin  5   7 , Bekim Sadikovic  5   7 , Ian Chin-Yee  1   4   5
Affiliations
Comparative Study

Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome

Eri Kawata et al. Br J Haematol. 2021 Feb.

Abstract

Next-generation sequencing (NGS) increasingly influences diagnosis, prognosis and management of myelodysplastic syndrome (MDS). In addition to marrow morphology and flow cytometry, our institution performs cytogenetics (CG) and NGS-based testing routinely in patients with suspected MDS. We evaluated the relative value of NGS in the assessment of patients with suspected MDS. We initially compared the diagnostic and prognostic information derived from CG and NGS in 134 patients. NGS enhanced the diagnostic yield compared to CG for clonal myeloid disorders (sensitivity 77% vs. 42·2%; specificity 90·2% vs. 78%; positive predictive value 92·8% vs. 76%; and negative predictive value 70·8% vs. 45·5%). The identification of poor prognosis mutations by NGS altered risk category in 27/39 (69·2%) patients with MDS with good/intermediate risk CG. Subsequently, we prospectively evaluated 70 patients with suspected MDS using an 'NGS-first approach' with CG restricted to samples with morphological abnormalities. We rarely identified mutations or CG abnormalities in patients without dysplastic features. NGS has a superior diagnostic performance compared to CG in patients with suspected MDS. We estimate that by using an 'NGS-first approach' we could reduce karyotyping by approximately 30%.

Keywords: cytogenetics (CG); laboratory haematology; molecular genetics; morphology; myelodysplastic syndrome (MDS).

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