ICB Seminar


From phenotype to whole genome sequencing: The disruption in diagnostic approaches in hematology

Prof. Dr. Dr. Torsten Haferlach, MLL MÜnchner Leukämielabor GmbH

Monday, July 23rd, 2018, 11.30 am, Seminar Room 121, Building 58a
Invited by Carsten Marr

The diagnosis in hematology is based on cytomorphology, histology, chromosome banding analysis, FISH, immunophenotyping and an increasing number of molecular methods. A specific combination at diagnosis depending on the respective disease is mandatory. Markers from immunophenotyping and molecular genetics are also feasible for follow-up studies, now called measurable residual disease or minimal residual disease (MRD). In the last decade discoveries in molecular genetics completely changed the landscape in hematology. These findings are now translated into routine diagnostics. This also already includes panels of genes to be investigated. Whole exome sequencing, whole genome sequencing and RNA-Seq will follow in the next years. All this is not only supporting diagnostic approaches, classification and add new markers for MRD but especially pave the way to more targeted treatment, so called precision medicine.