Faculty of Medicine

Lund University

Genetic studies of bone and soft tissue tumors

Principal investigator; Mertens, Fredrik, Professor, MD/PhD

Clinical speciality: Clinical genetics

Phone: +46462224594

Co-workers, Lund University: Domanski Henryk, Hansén Nord Karolin, Vult von Steyern Fredrik

International networks: Sarcoma centers in Bari, Birmingham, Boston, Helsinki, Leuven, Oslo, Stockholm

Research area/areas: Cancer and Oncology, Cell and Molecular Biology, Clinical Laboratory Medicine, Medical Genetics, Orthopaedics

Tumor cells are characterized by acquired genetic changes, many of which are detectable at the chromosome level. Cytogenetic studies of tumor cells have disclosed that different neoplasms have characteristic, sometimes pathognomonic, aberration patterns. Through molecular genetic analyses of recurrent chromosomal rearrangements, a large number of neoplasia-associated genes have been identified.

The aim of the study is to identify those genetic changes that are of particular importance for tumorigenesis and tumor progression in bone and soft tissue tumors. Selected aberrations are then further analyzed by molecular cytogenetic and molecular genetic, in particular array-based, techniques. Furthermore, the project aims at studying the mechanisms underlying the formation of neoplasia-associated chromosomal aberrations.

By combining cytogenetic and molecular genetic studies, a detailed as well as comprehensive picture of tumorigenesis may be achieved. Furthermore, identified neoplasia-associated gene and chromosome rearrangements may serve as diagnostic and prognostic markers.

Link to project homepage: http://www.research.med.lu.se/sv_projektdetaljer.php?Proj=490

5 recent original publications

Mitelman F, Johansson B, Mertens F
The impact of translocations and gene fusions on cancer causation
Nat Genet. 2007; 7: 233-245

Hallor KH, Staaf J, Bovée JVMG, Hogendoorn PCW, Cleton-Jansen A-M, Knuutila S, Savola S, Niini T, Brosjö O, Bauer HCF, Vult von Steyern F, Jonsson K, Skorpil M, Mandahl N, Mertens F
Genomic profiling of chondrosarcoma: Chromosomal patterns in central and peripheral tumors
Clin Cancer Res. 2009; 15: 2685-2694

Hallor KH, Sciot R, Staaf J, Heidenblad M, Rydholm A, Bauer HCF, Åström K, Domanski HA, Meis JM, Kindblom LG, Panagopoulos I, Mandahl N, Mertens F
Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions
J Pathol. 2009; 217: 716-727

Möller E, Hornick JL, Magnusson L, Veerla S, Domanski HA, Mertens F
FUS-CREB3L2/L1 positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1
Clin Cancer Res. 2011; 17: 2646-2656

Bartuma H, Nord KH, Macchia G, Isaksson M, Nilsson J, Domanski HA, Mandahl N, Mertens F
Gene expression and SNP array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion
Genes Chromosomes Cancer. 2011; 50: 619-632

Further publications here (new window)

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