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Editorials
Figure 1. Overview of the composition of the cohort and the analytical workflow in the study by Vantyghem et al. The composi- tion of the cohort of patients, with regards to their type of disorder, is depicted as a pie chart in the upper right corner with different shades of blue representing the various entities. The aims and results of the analy- ses are shown in the different boxes for the respective groups. AA: aplastic anemia; CH: clonal hematopoiesis; hMDS: hypoplastic myelodysplastic syndrome; ICUS: idiopathic cytopenia of undetermined significance; MDS: myelodysplastic syndrome; MPN: myeloproliferative neoplasm.
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keep turn-around times within a reasonable time frame, allowing a personalized molecular analysis for every patient before treatment starts. Turn-around times might be further reduced by using machine-learning techniques for speedy and accurate evaluation of test results.10
We must serve our patients to the best of our capacity by applying state-of-the-art methodologies to extend and supplement standard diagnostic criteria. Thus, any new data, any new scientific finding and any new assay needs to be evaluated, tested, and validated based on the best of the current available guidelines.11,12 In addition, analysis pipelines must be benchmarked to ensure flawless behav- ior with acceptable error margins.13 Following rigorous testing and scientific validation, we have the mandate to integrate new techniques with diagnostic, prognostic or therapeutic benefit into clinical routine practice as early as possible. Vantyghem et al. showed that in 83% of patients, a mutational profile was useful for making an integrated final diagnosis. In 19% the additional informa- tion gained by NGS data had prognostic impact and led to treatment modifications.
If we want to reduce the level of uncertainty in the diagnosis of hematologic malignancies, NGS might pro- vide us with the necessary additional information already today.14,15 Even if NGS is still comparably expensive, the confidence gained regarding a correct, final diagnosis, which reduces a patient’s fear and prevents wrong treat- ment, justifies its application already now.
Disclosures
TH is part owner of MLL Munich Leukemia Laboratory
References
1. Vantyghem S, Peterlin P, Thépot S, et al. Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study. Haematologica. 2021;106(3):701-707.
2.Swerdlow SH, Campo E, Harris NL, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Revised fourth edition. Lyon: IARC; 2017.
3.Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia.
haematologica | 2021; 106(3)