KIT V559

P2, N=40, Active, not recruiting, National Cancer Institute (NCI) | Suspended --> Active, not recruiting

P2, N=40, Suspended, National Cancer Institute (NCI) | Recruiting --> Suspended

P2, N=40, Recruiting, National Cancer Institute (NCI) | Initiation date: Sep 2023 --> Dec 2023

KMT2C A2254T has only been reported in astrocytoma. To our knowledge, this is the first case report of FBXW7 and KMT2C mutations in FDCS, which may indicate biologic and therapeutic relevance (Figure 1.82, A–D).

P2, N=40, Recruiting, National Cancer Institute (NCI) | Not yet recruiting --> Recruiting

Nearly half of them correspond to the malignant/high-risk category. The frequency of KIT mutations (79.31%) is in line with the literature.

P2, N=40, Recruiting, National Cancer Institute (NCI) | Initiation date: Jun 2023 --> Sep 2023

P2, N=40, Recruiting, National Cancer Institute (NCI) | Not yet recruiting --> Recruiting | Initiation date: Dec 2022 --> Jun 2023

Current treatments include surgery, tyrosine kinase inhibitors (e.g. sorafenib, pazopanib, sunitinib), and NSAIDs while gamma secretase inhibitors are under study. A large cohort of 204 desmoid-type fibromatosis samples analysed by targeted next-generation sequencing at the University Munster revealed imatinib sensitive KIT V559D in addition to AKT1, ALK, EGFR and ERBB2, however, NRG1 and MAFB were not included in the gene panel. Copy number alterations and mutations in NRG1 and MAFB may be relevant to the pathogenesis and a potential targeted therapy of desmoid fibromatosis. Copy number alterations and mutations in NRG1 and MAFB may be relevant to the pathogenesis and a potential targeted therapy of desmoid fibromatosis. Further analyses will be needed to confirm the relevance of these genes. Larger studies that include copy number analysis, whole exome and RNA sequencing are warranted.