title: A somatic TSHR mutation in a patient with lung adenocarcinoma with bronchioloalveolar             carcinoma, coronary artery disease and severe chronic obstructive pulmonary disease.
abstract: In a screen for thoracic malignancy-associated markers, thyroid stimulating             hormone receptor (TSHR) was identified as a candidate as it binds to the previously-characterized             lung cancer marker NKX2-1. We screened for mutations in all coding regions of             the TSHR gene in 96 lung adenocarcinoma samples and their matched adjacent normal             lung samples. We found one patient with a somatic mutation at codon 458 (exon             10), which is located at the transmembrane domain where most TSHR mutations have             been found in thyroid-related diseases. This patient had lung adenocarcinoma with             BAC (bronchioloalveolar carcinoma) features in the setting of a prior medical             history significant for carotid stenosis and severe chronic obstructive pulmonary             disease (COPD). In order to characterize the genetic features of TSHR in lung             cancer, we checked for TSHR expression and copy number in the 96 lung cancer tissues.             TSHR protein expression was generally overexpressed in multiple thoracic malignancies             (adenocarcinoma, squamous cell carcinoma and malignant pleural mesothelioma) by             immunohistochemistry. Our data suggest that aberrant TSHR function may contribute             to lung cancer development or a subgroup of lung cancer with specific clinical             phenotypes.
authors: Thoracic Oncology Laboratory, Department of Surgery, Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA 94115, USA.
authors: James Wan Soo
authors: JW
authors: Kim
authors: Sharon
authors: S
authors: Lee
authors: Natalie
authors: N
authors: Lui
authors: Helen
authors: H
authors: Choi
authors: Michael
authors: M
authors: Mulvihill
authors: Li Tai
authors: LT
authors: Fang
authors: Hio Chung
authors: HC
authors: Kang
authors: Yong-Won
authors: YW
authors: Kwon
authors: David
authors: D
authors: Jablons
authors: Il-Jin
authors: IJ
authors: Kim
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000077192:Adenocarcinoma of Lung; D002282:Adenocarcinoma, Bronchiolo-Alveolar / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics* / Q000378:metabolism; D005260:Female; D018628:Gene Dosage; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008654:Mesothelioma / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D011989:Receptors, Thyrotropin / Q000235:genetics* / Q000378:metabolism
chemical_list: D011989:Receptors, Thyrotropin