Milea Timbergen

The Many Faces of Desmoid-type Fibromatosis Chapter 1 General Introduction and Aims of this thesis 7 Part I Genetics and Molecular Biology Chapter 2 Activated signalling pathways and targeted therapies in desmoid-type fibromatosis: A literature review 21 Chapter 3 Wnt target genes are not differentially expressed in desmoid tumours bearing different activating β-catenin mutations 57 Chapter 4 Differentially methylated regions in desmoid-type fibromatosis: A comparison between CTNNB1 S45F and T41A tumours 91 Part II Diagnosis and Treatment Chapter 5 Differential diagnosis and mutation stratification of desmoid-type fibromatosis on MRI using radiomics 123 Chapter 6 Active surveillance in desmoid-type fibromatosis: A systematic literature review 159 Chapter 7 The prognostic role of β-catenin mutations in desmoid-type fibromatosis undergoing resection only: A meta-analysis of individual patient data 185 Part III Health-related Quality of Life Chapter 8 Identification and assessment of health-related quality of life issues in patients with sporadic desmoid-type fibromatosis: A literature review and focus group study 219 Chapter 9 Assessing the desmoid-type fibromatosis patients’ voice: Comparison of health-related quality of life experiences from patients of two countries 245 Chapter 10 An international cohort study evaluating health-related quality of life issues experienced by patients with desmoid-type fibromatosis – the QUALIFIED study 275 Part IV General discussion and Future Perspectives Chapter 11 General discussion 315 Chapter 12 Future perspectives 325 Chapter 13 Summary Samenvatting 334 338 Appendices Contributing authors About the author PhD portfolio List of publications Dankwoord 346 350 351 352 354