title: PIK3CA Mutations Detected in Patients with Central Nervous System Metastases of Non-small Cell Lung Cancer.
abstract: BACKGROUND
  In non-small cell lung cancer (NSCLC) the phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) gene mutations have been reported in fewer than 5% of primary tumors.
  
  
  METHODS
  We assessed PIK3CA gene mutations in 145 tissue samples from central nervous system (CNS) metastases of NSCLC using three polymerase chain reaction (PCR) techniques: high resolution melting-PCR (HRM-PCR), allele-specific-quantitative PCR (ASP-qPCR) and TaqMan PCR.
  
  
  RESULTS
  HRM analysis allowed us to select three PIK3CA-positive specimens (2.1% of the studied group) and ASP-qPCR techniques identified them as one E542K and two H1047R substitutions, which were confirmed by TaqMan probes. The PIK3CA mutations were indicated only in males (3% of all males). One of the patients was reported to be a non-smoker with adenocarcinoma (AC; 2.5% of the AC group), however, the other two patients were smokers with squamous cell carcinoma (SCC; 3.4% of SCC group).
  
  
  CONCLUSIONS
  This is the first report of the presence of PIK3CA gene mutation in CNS-metastatic lesions of NSCLC worldwide that could broaden therapeutic choices in such patients.
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland marcin_nicos@interia.pl.
authors.forename: Marcin
authors.initials: M
authors.lastname: Nicoś
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Krawczyk
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Powrózek
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland.
authors.forename: Paulina
authors.initials: P
authors.lastname: Szudy
authors.affiliation: Department of Neurosurgery and Pediatric Neurosurgery, Medical University of Lublin, Lublin, Poland.
authors.forename: Bożena
authors.initials: B
authors.lastname: Jarosz
authors.affiliation: Department of Thoracic Surgery, Medical University of Lublin, Lublin, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Sawicki
authors.affiliation: Department of Clinical Pathomorphology, Medical University of Lublin, Lublin, Poland.
authors.forename: Justyna
authors.initials: J
authors.lastname: Szumiło
authors.affiliation: Department of Neurosurgery and Pediatric Neurosurgery, Medical University of Lublin, Lublin, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Trojanowski
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Milanowski
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000556:secondary*; D000368:Aged; D019943:Amino Acid Substitution; D001932:Brain Neoplasms / Q000235:genetics / Q000556:secondary*; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics / Q000556:secondary*; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000556:secondary*; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012907:Smoking
chemical_list: D009363:Neoplasm Proteins; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: ASP-qPCR; HRM-PCR; NSCLC; PIK3CA mutations; central nervous system metastases; real-time PCR