E-Mail Newsletter (MLL News)

Sequence alterations have classically been divided into two categories: "mutation" and "polymorphism". However, the rapid increase in sequencing data from healthy and various diseased tissues has made it obvious that there is a broad spectrum between clearly disease-associated pathogenic alterations and non-pathogenic polymorphisms. As of now, we are working in molecular genetics with the world's most widely used 4-tier classification system, which we have adapted to central questions in hematological diagnostics. We would like to introduce this to you in this article.

Recently, S. Vantyghem et al (Haematologica 3/1/2021, pages 701–707) published a “real-life study.” The analyses were focused on 177 patients with suspected or already confirmed myeloid neoplasias such as MDS or MPN without a final diagnosis using cytomorphology and immunophenotyping. In a first cohort, an NGS panel with 34 genes was used either to exclude or confirm a definitive diagnosis. In a second cohort, the extent to which prognostic and especially therapeutic consequences would have to be drawn if somatic mutations were detectable was investigated. I would like to introduce this study to you in this article.