title: Analysis of significantly mutated genes as a clinical tool for the diagnosis in a case of lung cancer.
abstract: Bronchoendoscopic examination is not necessarily comfortable procedure and limited by its sensitivity, depending on the location and size of the tumor lesion. Patients with a non-diagnostic bronchoendoscopic examination often undergo further invasive examinations. Non-invasive diagnostic tool of lung cancer is desired. A 72-year-old man had a 3.0 cm × 2.5 cm mass lesion in the segment B1 of right lung. Cytological examination of sputum, bronchial washing and curetted samples were all "negative". We could confirm a diagnosis of lung cancer after right upper lung lobe resection pathologically, and also obtained concordant results by genomic analysis using cytological negative samples from airways collected before operation. Genetic analysis showed mutational profiles of both resected specimens and samples from airways were identical. These data clearly indicated the next generation sequencing (NGS) may yield a diagnostic tool to conduct "precision medicine".
authors.affiliation: Department of Pulmonary Medicine, Yamanashi Central Hospital, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Miyashita
authors.affiliation: Genome Analysis Center, Yamanashi Central Hospital, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Hirotsu
authors.affiliation: Department of Pulmonary Medicine, Yamanashi Central Hospital, Japan.
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Tsutsui
authors.affiliation: Department of Pulmonary Medicine, Yamanashi Central Hospital, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Higashi
authors.affiliation: Department of Pulmonary Medicine, Yamanashi Central Hospital, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Sogami
authors.affiliation: Department of Pulmonary Medicine, Yamanashi Central Hospital, Japan.
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Kakizaki
authors.affiliation: Department of Pulmonary Surgery, Yamanashi Central Hospital, Japan.
authors.forename: Taichiro
authors.initials: T
authors.lastname: Goto
authors.affiliation: Genome Analysis Center, Yamanashi Central Hospital, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Amemiya
authors.affiliation: Department of Pathology, Yamanashi Central Hospital, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Oyama
authors.affiliation: Genome Analysis Center, Yamanashi Central Hospital, Japan; University of Tokyo, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Omata
keywords: Bronchoendoscopy; Genomic analysis; Lung cancer; Next generation sequencing; Precision medicine