In colorectal cancer (CRC), mutations of genes associated with the TGF-β/BMP signaling pathway, particularly affecting , are known to correlate with decreased overall survival and it is assumed that this signaling axis plays a key role in chemoresistance. Using CRISPR technology on syngeneic patient-derived organoids (PDOs), we investigated the role of a loss-of-function of in sensitivity to MEK-inhibitors. CRISPR-engineered PDOs were subjected to drug screening, RNA-Sequencing, and multiplex protein profiling (DigiWest).
View Article and Find Full Text PDFGardner fibroma represents a rare and recently described soft tissue tumor entity in children and young adults. It consists of haphazardly arranged coarse and hyalinized collagen fibers combined with loosely arranged bland spindle and fibroblastic cells. The case of a 13-year-old male patient with Gardner fibroma and osteoma and multicentric desmoid type fibromatosis in his mother is presented with detection of a (heterozygotic) germline mutation of the APC gene leading to a de novo stop codon (deletion of base pairs 5033-5036).
View Article and Find Full Text PDFMyxoid/round cell liposarcoma are characterized by typical chromosomal translocations. This genetic alteration might result in specific gene-expression profiles in this tumor entity. To identify over-expressed genes in myxoid/round cell liposarcoma DNA microarray analysis was performed on four tumors and four samples of adult fat tissue.
View Article and Find Full Text PDFSclerosing (pseudovascular) rhabdomyosarcoma in adults has been described as a rare variant of rhabdomyosarcoma characterized by extensive hyaline fibrosis and pseudovascular growth patterns. We describe another case of this rhabdomyosarcoma subtype including ultrastructural and genetic findings-the lesion presented in a 62-year-old male patient in the left lower leg. The tumor was located within the deep soft tissue with maximum diameter of 11.
View Article and Find Full Text PDFSeptins are filament-forming GTPases involved in cytokinesis and cortical organization. In the yeast Saccharomyces cerevisiae, the septins encoded by CDC3, CDC10, CDC11, and CDC12 form a high-molecular-weight complex, localized at the cytoplasmic face of the plasma membrane in the mother-bud neck. While septin function at the cellular level is fairly well understood, progress on structure-function analysis of these proteins has been slow and limited by the lack of large amounts of pure complex.
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