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Fredrik Mertens

Professor, specialist Physician

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Research

Soft tissue tumors (STT) constitute a heterogeneous group of neoplasms that clinically run the gamut from totally benign to highly malignant neoplasms. This clinical variability is reflected in the recognition of more than 100 histopathologic entities. Genetic analyses have provided a wealth of information on the genectic constitution of STT, and clearly nonrandom patterns of genetic changes, ranging from point mutations and gene fusions to massive genomic imbalalnces, have been identified in each histological entity studied in sufficient detail. The finding of a strong genotype-phenotype correlation has not only provided valuable clues to the cellular mechanisms behind STT development, but has also been of clinical significance by increasing the diagnostic accuracy.


Our research activites concerning STT are focused on the characterization of the spectrum of acquired genetic changes occuring in vivo, using state of the art  techniques. The aims of these studies are to identify genetic changes that are instrumental for tumor development and progression, to clarify the causes and consequences of increased genetic instability, which is a characteristic feature of several types of STT, and to establish objective and robust genetic assays that could improve the clinical management of patients with STT by adding diagnostic and prognostic precision.

UKÄ subject classification

  • Medical and Health Sciences
  • Cancer and Oncology
  • Medical Genetics

Keywords

  • Sarcoma
  • diagnosis
  • Gene fusions

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