title: Sensitive methods for the detection of an insertion in exon 20 of theHER2gene in the metastasis of non-small cell lung cancer to the central nervous system.
abstract: The HER2 (ErbB2/neu) protein is a member of the HER (ErbB) receptor family (EGFR, HER2, HER3 and HER4) that expresses tyrosine kinase activity in the intracellular domain. EGFR and HER2 overexpression is observed in numerous types of cancer, nevertheless, the susceptibility of patients with non-small cell lung cancer (NSCLC) to therapy with EGFR and HER2 tyrosine kinase inhibitors (TKIs) depends on mutations present in the respective coding genes (driver mutations). In the present study, PCR and amplified DNA fragment length analysis (FLA) were used along with the multi-temperature single-strand conformation polymorphism (MSSCP) technique in order to identify the 12 base pair insertion in exon 20 of theHER2gene in 143 patients with NSCLC metastasis to the central nervous system. The prevalence of theHER2gene mutation was correlated with mutations in theEGFRandBRAFgenes. The insertion in exon 20 of theHER2gene was observed in a single 77-year-old, non-smoking male, with poorly-differentiated adenocarcinoma of the lung (1.5% of adenocarcinoma patients). No other genetic abnormalities were identified in this patient. In the therapy of NSCLC patients withHER2gene mutations, drugs that inhibit the EGFR and HER2 receptors, for example afatinib, may be effective. The identification of other driving mutations in NSCLC cells appears to be key to the appropriate qualification of molecular targeted therapies.
authors.affiliation: Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, Lubin 20-954, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Krawczyk
authors.forename: Marcin
authors.initials: M
authors.lastname: Nicoœ
authors.forename: Tomasz
authors.initials: T
authors.lastname: Powrózek
authors.forename: Radosław
authors.initials: R
authors.lastname: Mlak
authors.forename: Marek
authors.initials: M
authors.lastname: Sawicki
authors.forename: Bożena
authors.initials: B
authors.lastname: Jarosz
authors.forename: Beata
authors.initials: B
authors.lastname: Pająk
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Kucharczyk
authors.forename: Dariusz
authors.initials: D
authors.lastname: Stencel
authors.forename: Tomasz
authors.initials: T
authors.lastname: Trojanowski
authors.forename: Janusz
authors.initials: J
authors.lastname: Milanowski
keywords: HER2 mutation; metastasis to the central nervous system; non-small cell lung cancer