title: Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus.
abstract: Mutation of PIK3CA, the gene coding for the p110alpha catalytic subunit of phosphoinositide 3-kinase (PI3K), has been reported in a limited range of human tumors. We now report that PIK3CA is also mutated in esophageal tumors. Single-strand conformational polymorphism (SSCP) and denaturing high-performance liquid chromatography (DHPLC) were used to screen all 20 exons of PIK3CA in 101 samples from 95 individuals with esophageal cancer and/or Barrett's esophagus. Somatic mutation of PIK3CA was detected in 4 of 35 (11.8%) of esophageal squamous cell carcinomas (SCC) and 3 of 50 (6%) adenocarcinomas. No mutations were detected in any of 17 samples of Barrett's esophagus. For PIK3CB, we screened exons 11 and 22, which code for the regions corresponding to the exon 9 and 20 mutational 'hotspots' of PIK3CA. No somatic changes were detected in PIK3CB This study extends previous observations in other tumor types by demonstrating the presence of somatic PIK3CA mutations in both SCC and adenocarcinoma of the esophagus, thus implicating the PI3K pathway in the initiation and/or progression of esophageal cancers.
authors.affiliation: Surgical Oncology Laboratory, Peter MacCallum Cancer Centre, and Department of Surgery (St. Vincent's Hospital), University of Melbourne, Parkville, VIC, Australia. wayne.phillips@petermac.org
authors.forename: Wayne A
authors.initials: WA
authors.lastname: Phillips
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Russell
authors.forename: Marianne L
authors.initials: ML
authors.lastname: Ciavarella
authors.forename: David Y H
authors.initials: DY
authors.lastname: Choong
authors.forename: Karen G
authors.initials: KG
authors.lastname: Montgomery
authors.forename: Katherine
authors.initials: K
authors.lastname: Smith
authors.forename: Richard B
authors.initials: RB
authors.lastname: Pearson
authors.forename: Robert J S
authors.initials: RJ
authors.lastname: Thomas
authors.forename: Ian G
authors.initials: IG
authors.lastname: Campbell
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000503:physiopathology; D001471:Barrett Esophagus / Q000235:genetics* / Q000503:physiopathology; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000503:physiopathology; D002851:Chromatography, High Pressure Liquid; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human