dr. Joni Van der Meulen (PhD)

As coordinator of the platform molecular diagnostics UZ Gent (MDG), novel next-generation sequencing technologies are implemented for the detection of SNVs, indels, CNVs and fusions in DNA/RNA of tumor tissue, blood, bone marrow samples and liquid biopsies of cancer patients. The presence of certain genetic defects can help to predict therapy response, can guide the diagnosis and/or can fine tune the prognosis of cancer patients with solid tumors or hematological malignancies. Using these DNA and RNA-based NGS technologies, MDG collaborates with the pathology department in the further characterization of rare tumor entities and the detection of novel variants and fusions in tumor samples resulting in interesting case reports. Novel technologies including comprehensive genomic profiling, mutation analysis in liquid biopsies using digital PCR, methylation sequencing, homology recombination deficiency testing are being explored to implement further in the clinical setting.
 

• Atypical spindle cell/pleomorphic lipomatous tumour: a clinicopathologic, immunohistochemical and molecular study of 55 cases, highlighting TP53 gene alterations as a genetic hallmark of atypical pleomorphic lipomatous tumour. Histopathology. 2025 May 23. doi: 10.1111/his.15474. (PMID: 40405626)
• Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors. Nat Med. 2025 May;31(5):1567-1577. doi: 10.1038/s41591-025-03562-5. Epub 2025 Mar 25. (PMID: 40133526)
• A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer. NPJ Precis Oncol. 2025 Mar 10;9(1):66. doi: 10.1038/s41698-025-00858-0. (PMID: 40065106)
• Clinical, Morphologic, and Genomic Findings in Spitz Tumors With RET Fusion: A Series of 31 Cases. Mod Pathol. 2025 May;38(5):100740. doi: 10.1016/j.modpat.2025.100740. Epub 2025 Feb 20. (PMID: 39986469)
• Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics. Mol Oncol. 2025 Jan 31. doi: 10.1002/1878-0261.13812. Online ahead of print. (PMID: 39887903)
• Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. Sci Rep 2021. Accepted. Impact factor 3.998 (2019).
• Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion. Pathol Res Pract. 2020 Dec;216(12):153239. Impact factor 2.05 (2019).
• Establishment and characterization of a cell line and patient-derived xenograft (PDX) from peritoneal metastasis of low-grade serous ovarian carcinoma. Sci Rep. 2020 Apr 21;10(1):6688. Impact factor 3.998 (2019).
• Distinct Notch1 and BCL11B requirements mediate human γδ/αβ T cell development. EMBO Rep. 2020 May 6;21(5):e49006. Impact factor 7.497 (2019).
• Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel. Cancers (Basel). 2019 Dec 16;11(12). Impact factor 6.126 (2019).
   

• address: UZ-MRB (Medical Research Building), 1st floor, room 110.050, Corneel Heymanslaan 10, 9000 Gent
• moleculaire diagnostiek UZ Gent (in Dutch)
• Molecular Diagnostics.be
• LinkedIn profile Joni Van der Meulen
• Member of the Consortium for Sarcoma Research Ghent (ConSaRGhent)