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The Genetics of Soft Tissue Tumors


Mertens gruppbild

Soft tissue tumors (STT) constitute a heterogeneous group of approximately 100 distinct neoplasms, including more than 50 malignant subtypes, so-called sarcomas. Genetic analyses have shown that the clinical and biological variation among these neoplasms is reflected in their genotypes. While the diagnosis of STT has been improved by such genetic biomarkers, the use of genetic information for improved treatment stratification or for developing new treatment targets lags behind. Apart from identifying and implementing new STT biomarkers in the clinic, we pursue three different lines of investigation, aiming at (1) distiguishing patients with low and high, respectively, risks for relapse; (2) evaluating the cellular effects of driver mutations, such as gene fusions; and (3) understanding the genetic mechanisms causing genetic instability and clonal evolution. These questions will be resolved by combining comprehensive genetic analyses with functional studies and thorough clinical correlations. The identification of specific mutations is of immediate clinical importance by providing improved diagnostic precision and opportunities for prognostic evaluation. Furthermore, the results of our studies will shed light on potential new therapeutic targets.  

For publications: or


5 selected publications:

Hofvander J, Viklund B, Isaksson A, Brosjö O, Vult von Steyern F, Rissler P, Mandahl N, Mertens F. Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years. Nat Commun 2018;9:3662.

Al-Ibraheemi A, Folpe AL, Perez-Atayde AR, Perry K, Hofvander J, Arbajian E, Magnusson L, Nilsson J, Mertens F. Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases. Mod Pathol 2019;32:423-434.

Hofvander J, Jo VY, Fletcher CDM, Puls F, Flucke U, Nilsson J, Magnusson L, Mertens F. PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells. Mod Pathol 2020;33:1331-1340.

Puls F, Carter J, Pillay N, McCulloch T, Vaiyapuri S, Rissler P, Fagman H, Hansson M, Amary MF, Tirabosco R, Magnusson L, Nilsson J, Flanagan A, Folpe A, Mertens F. Overlapping morphological, immunohistochemical and genetic features of superficial CD34-positive fibroblastic tumor and PRDM10-rearranged soft tissue tumor. Mod Pathol 2022;35:767-776.    

Steele CD, Abbasi A, Islam SMA, Bowes AL, Khandekar A, Haase K, Hames-Fathi S, Ajayi D, Verfaillie A, Dhami P, McLatchie A, Lechner M, Light N, Shlien A, Malkin D, Feber A, Proszek P, Lesluyes T, Mertens F, Flanagan AM, Tarabichi M, Van Loo P, Alexandrov LB, Pillay N. Signatures of copy number alterations in human cancer. Nature 2022;606:984-991.


Fredrik Mertens edited

Fredrik Mertens
Professor, MD, PhD

Department of Laboratory Medicine
Division of Clinical Genetics
Klinikgatan 28
SE-221 84 Lund

Tel: +46 46 222 82 72 
Email: Fredrik [dot] Mertens [at] med [dot] lu [dot] se (Fredrik[dot]Mertens[at]med[dot]lu[dot]se)


Research group members
Maria Hellberg, PhD student
jakob [dot] hofvander [at] med [dot] lu [dot] se (Jakob Hofvander), Post doc
jan [dot] koster [at] med [dot] lu [dot] se (Jan Köster), PhD student
Linda [dot] Magnusson [at] med [dot] lu [dot] se (Linda Magnusson,) Technician
nils [dot] mandahl [at] med [dot] lu [dot] se (Nils Mandahl,) PhD, professor emeritus
Jenny [dot] Nilsson [at] med [dot] lu [dot] se (Jenny Nilsson), Technician
paul [dot] piccinelli [at] med [dot] lu [dot] se (Paul Piccinelli), Bioinformatician
saskia [dot] sydow [at] med [dot] lu [dot] se (Saskia Sydow), PhD student