a systematic study of gene mutations in urothelial carcinoma; inactivating mutations in tsc2 and pik3r1系统在移行细胞癌基因突变的研究;.pdfVIP

A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1 ¨ 1 1 2 2,3 ´ 4 Gottfrid Sjodahl , Martin Lauss , Sigurdur Gudjonsson , Fredrik Liedberg , Christer Hallden , Gunilla 5 ˚ 2 ¨ 1 1,6 Chebil , Wiking Mansson , Mattias Hoglund *, David Lindgren ˚ ˚ 1 Department of Clinical Sciences, Oncology, Lund University, Skane University Hospital, Lund, Sweden, 2 Department of Clinical Sciences, Urology, Skane University ¨ ¨ ¨ ¨ ¨ ˚ Hospital, Malmo, Sweden, 3 Section of Urology, Vaxjo County Hospital, Vaxjo, Sweden, 4 Department of Laboratory Medicine, Clinical Chemistry, Lund University, Skane ¨ University Hospital, Malmo, Sweden, 5 Department of Pathology, Helsingborg Hospital, Helsingborg, Sweden, 6 Center for Molecular Pathology, Department of ˚ ¨ Laboratory Medicine, Lund University, Skane University Hospital, Malmo, Sweden Abstract Background: Urothelial carcinoma (UC) is characterized by frequent gene mutations of which activating mutations in FGFR3 are the most frequent. Several downstream targets of FGFR3 are also mutated in UC, e.g., PIK3CA, AKT1, and RAS. Most mutation studies of UCs have been foc