Molecular screening Investigation of somatic mutations as diagnostic tool, malignancy grade determination and prognostic factors in sarcomas

Sarcomas are difficult to classify because of their rarity and diversity. Morphological and immunophenotypic criteria are used to subclassify cases, and several subgroups have unclear properties, and even undetermined malignancy. Some subgroups carry pathognomonic genetic aberrations, but at present the diagnostic tests are low-throughput and time-consuming. New techniques, including next-generation sequencing (NGS), are promising and may improve the understanding and diagnostics in sarcomas.

We have set up a translational project on sarcomas to bridge routine molecular pathology with targeted sequencing in a research setting.

Aim

• Assess molecular pathology including NGS based analysis of mutations and sarcoma-specific translocations as a tool for classification and malignancy grade staging and to identify prognostic and predictive biomarkers in sarcoma.
• Participate in the development of new approaches to evaluate genome-based diagnostics for routine clinical practice.

The study will mainly focus on three specific histological subgroups among sarcomas:  leiomyosarcoma (LMS), solitary fibrous tumor (SFT) and undifferentiated pleomorphic sarcoma (UPS).