Cost-conscious diagnostics are a must. As MLL hematologists who, in general, have invariably spent a lot of time working in hospitals and outpatient clinics, we are particularly aware of this problem. It has thus always been our priority to provide you and your patients with a cost-effective procedure in the form of step-by-step diagnostics.

In the last issue (1/2019), MLL News featured an article which was recently published in Blood on the use of high-throughput sequencing in (unclear) cytopenia and MDS (Steensma et al. 2018). Next-generation sequencing (NGS) is already playing a major role in AML diagnostics today and will continue to become more and more important. The focus of this issue of MLL News is therefore the current and future challenges of advanced molecular genetic diagnostics in (suspected) AML.

The MLL Academy took place for the second time from April 8, 2019 to April 12, 2019. The twelve international participants were able to gain a detailed overview of clinical cases and in particular the special diagnostics of hematological diseases. Due to the positive feedback of participants once again this year, a five-day MLL Academy is already in the works for 2020.

Since May 2018, the Munich leukemia laboratory has been featuring its very own conference facility covering an area of 500 sqm. It has a bright and spacious foyer, providing a space for receptions and events of all kinds. From the front of the foyer you can access the “large training room”, which can accommodate 190 people and is equipped with a 6.70m x 1.71m LED wall, several cameras as well as an integrated sound and loudspeaker system, making it one of the largest video conference rooms in Germany.

Approx. 10% of all hematological neoplasias are plasma cell diseases such as multiple myeloma (MM) or plasma cell leukemias. As is the case for other hematological diseases, molecular genetic diagnostics can be viewed as increasingly relevant in the diagnosis, prognosis and therapeutic stratification of MM. This is especially true given that MM in genetic terms is a highly heterogeneous neoplasia. MLL currently offers a molecular genetic panel that includes the BRAF, KRAS, NRAS and TP53 genes.

Making a patient disease diagnosis on the basis of Next-Generation Sequencing (NGS) data is a complex endeavor. To be able to make an exact diagnosis, medical professionals must be able to access all the available information pertaining to the specific genetic variants detected. This is not only time-consuming, but also requires extensive investment. This is further complicated by the fact that not all genetic variants have been described or precisely annotated. The annotation itself is sometimes not easily accessed or may be ambiguous from one source to another.

Next-generation sequencing (NGS) has rapidly become an indispensable tool in diagnostic molecular genetics. A recent article in Blood (Steensma Blood 2018) examined how patients with ambiguous cytopenia or with a (suspected) MDS diagnosis can benefit from the diagnostic potential of NGS. For this reason, MLL Münchner Leukämielabor has taken a closer look at the importance of extended molecular diagnostics for (suspected) MDS, with particular emphasis given to cases in which MDS cannot be confirmed using conventional methods. Currently, NGS already plays an important role in the diagnosis of AML and it is expected to play even more significant role in the future. Our next newsletter (2/2019) will therefore focus on the central role of comprehensive molecular diagnostics in (suspected) cases of AML.