My research aim is to elucidate molecular genetic changes that are responsible for sarcoma development, progression or prognosis by using a wide range of molecular cytogenetic tools thereby improving genetic classification of these tumour entities allowing stratification for better diagnosis and treatment.
I built up an intense collaboration with the bone and soft tissue tumour pathology group at the department of Pathology (formerly lead by Prof. Hogendoorn and now by Prof. Bovee) resulting in key-discoveries including: the first identification and description of genetic changes in Ewing-like sarcoma caused by EWSR1-NFATC2 translocation and amplification, GRM1 upregulation in chondromyxoid fibroma, MYOD1 mutation in spindle cell rhabdomyosarcoma and FOS truncation in epithelioid hemangioma using NGS.
This translational research activity connected basic science (genetics and modelling) with applied clinical research (diagnostics, clinical classification) for bone and soft tissue tumours.
I graduated as a medical doctor at Pecs University Medical School in Pecs, Hungary and worked as clinical fellow before I started my PhD. In 2001 I obtained my PhD in Molecular Pathology at Leiden University to develop and translate molecular pathology techniques in cancer and mitochondrial diseases. As a post doc, I stayed at the Molecular Cell Biology department and started a joint project on molecular genetics of bone and soft tissue tumours with the Pathology department, LUMC. My background in medicine and my passion in developing in applying molecular techniques to translational research was the basis to join and stay at the department of Molecular Cell Biology. Since 2013 I work as associate professor. I work in collaboration with the Pathology department with the group of Prof Bovee as my work has a strong translational focus where obtained results and their translation is needed using clinical material giving a strong synergy for the research. Furthermore, I am the coordinator of the half minor on Molecular Targets and Cancer Therapy.
The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology.
Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PCW.
Clin Cancer Res. 2009 Apr 1;15(7):2259-68. doi: 10.1158/1078-0432.CCR-08-2184. PMID: 19318479
GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
Nord KH, Lilljebjörn H, Vezzi F, Nilsson J, Magnusson L, Tayebwa J, de Jong D, Bovée JVMG, Hogendoorn PCW, Szuhai K.
Nat Genet. 2014 May;46(5):474-7. doi: 10.1038/ng.2927. PMID: 24658000
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma.
Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PCW.
J Pathol. 2014 Feb;232(3):300-7. doi: 10.1002/path.4307. PMID: 24272621
Groups: Molecular tumour genetics