Molekularpathologie bei ausgewählten Weichgewebssarkomen: diagnostisch und therapeutisch relevante Aberrationen

Abstract

The current World Health Organization (WHO) classification for soft tissue and bone sarcomas published in 2020 includes more than 110 benign, intermediate, and malignant soft tissue tumors, among them numerous novel entities which in the majority of cases are defined by novel molecular findings. These alterations may be of diagnostic, prognostic, and/or therapeutic relevance. Due to the increased use of RNA sequencing, increasing numbers of established but also novel fusion transcripts are being detected although the clinical relevance is not always known. This leads to an increase of novel tumor entities with novel defining criteria. At the same time, sarcomas without recurrent genomic alterations are decreasing in number. In a subgroup of sarcomas, identification of the driving alteration ideally results in a therapeutic target. In the following review, we present preferentially tumor entities in which potential therapeutic options may arise based on the molecular characteristics.