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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.
The “Diagnostic Offer” page on the website of the Munich Leukemia Laboratory describes, among other things, the detailed diagnostics, classifications, and prognosis of hematological diseases. The website has been updated over the past few months. A number of new hematological entities have been added. And as part of a further internationalization drive for our company, all pages are now also available in English.
The daily work of physicians, scientists and MTLA is becoming increasingly digital. A transmission of diagnostic reports via fax can barely be combined with modern and innovative work processes any mores. For more than a year now, the web-based portal for diagnostic reports of the MLL has been used extensively and increasingly for submitting diagnostic reports, whereby all the reports are then available for download as PDF documents. We would like to introduce this portal to you in this article.