title: AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma.
abstract: The PI3K/AKT pathway is frequently activated in human cancer. Recently, a G to A point mutation (E17K) was found in the pleckstrin homology domain of AKT1. We aimed to explore this mutation in cases of urothelial carcinoma. Using chip-based matrix-assisted laser desorption-time-of-flight (MALDI-TOF) mass spectrometer, AKT1 E17K mutation was searched in 26 total RNA samples obtained from 26 patients known to have urothelial carcinoma. Mutation was found in one out of 26 (3.8%) patients - a 46 year old female with a low grade transitional cell carcinoma located to the lamina propria (Ta disease). Our finding is in line with previous studies showing AKT1 E17K mutation to be rare. Yet, further studies are required to determine whether this mutation is indeed related to less aggressive disease and carries better prognosis.
authors.affiliation: Department of Urology, The Chaim Sheba Medical Center, Tel-Ha'Shomer, Ramat-Gan, Affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. dorit1e@yahoo.com
authors.forename: Dorit E
authors.initials: DE
authors.lastname: Zilberman
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Edward
authors.initials: E
authors.lastname: Fridman
authors.forename: Jacob
authors.initials: J
authors.lastname: Ramon
authors.forename: Gideon
authors.initials: G
authors.lastname: Rechavi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D002295:Carcinoma, Transitional Cell / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D003710:Demography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary; D051057:Proto-Oncogene Proteins c-akt / Q000737:chemistry / Q000235:genetics*; D019459:Urothelium / Q000201:enzymology* / Q000473:pathology*
chemical_list: D051057:Proto-Oncogene Proteins c-akt