Publications by authors named "Mike van den Berg"
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in another as yet unidentified gene.
View Article and Find Full Text PDFArticle Synopsis
- Uveal melanoma is a deadly cancer that tends to spread, with limited treatment options after metastasis occurs.
- Loss of chromosome 3 and mutations in the BAP1 gene are significant indicators of metastasis in this type of cancer.
- In this study, BAP1 mutations were found in 47% of cases, correlating strongly with poor protein expression and higher chances of metastasis, highlighting the need for routine BAP1 screening in patient diagnostics.
Purpose: To examine the prognostic relevance of expression of the chemokine receptors CCR7 and CXCR4 and its ligand CXCL12 in uveal melanoma in nonmetastatic and metastatic patients with correlation to liver metastasis and overall survival.
Methods: Primary uveal melanoma specimens from 19 patients with correlating liver metastasis specimens and 30 primary uveal melanoma specimens of patients without metastasis were collected between the years 1988 and 2008. Expression of CCR7, CXCR4, and CXCL12 were studied using immunohistochemistry.