Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing.

Abstract:

BACKGROUND:Asbestos is a carcinogen linked to malignant mesothelioma (MM) and lung cancer. Some gene aberrations related to asbestos exposure are recognized, but many associated mutations remain obscure. We performed exome sequencing to determine the association of previously known mutations (driver gene mutations) with asbestos and to identify novel mutations related to asbestos exposure in lung adenocarcinoma (LAC) and MM. METHODS:Exome sequencing was performed on DNA from 47 tumor tissues of MM (21) and LAC (26) patients, 27 of whom had been asbestos-exposed (18 MM, 9 LAC). In addition, 9 normal lung/blood samples of LAC were sequenced. Novel mutations identified from exome data were validated by amplicon-based deep sequencing. Driver gene mutations in BRAF, EGFR, ERBB2, HRAS, KRAS, MET, NRAS, PIK3CA, STK11, and ephrin receptor genes (EPHA1-8, 10 and EPHB1-4, 6) were studied for both LAC and MM, and in BAP1, CUL1, CDKN2A, and NF2 for MM. RESULTS:In asbestos-exposed MM patients, previously non-described NF2 frameshift mutation (one) and BAP1 mutations (four) were detected. Exome data mining revealed some genes potentially associated with asbestos exposure, such as MRPL1 and SDK1. BAP1 and COPG1 mutations were seen exclusively in MM. Pathogenic KRAS mutations were common in LAC patients (42 %), both in non-exposed (n = 5) and exposed patients (n = 6). Pathogenic BRAF mutations were found in two LACs. CONCLUSION:BAP1 mutations occurred in asbestos-exposed MM. MRPL1, SDK1, SEMA5B, and INPP4A could possibly serve as candidate genes for alterations associated with asbestos exposure. KRAS mutations in LAC were not associated with asbestos exposure.

journal_name

Lung

journal_title

Lung

authors

Mäki-Nevala S,Sarhadi VK,Knuuttila A,Scheinin I,Ellonen P,Lagström S,Rönty M,Kettunen E,Husgafvel-Pursiainen K,Wolff H,Knuutila S

doi

10.1007/s00408-015-9814-7

subject

Has Abstract

pub_date

2016-02-01 00:00:00

pages

125-35

issue

1

eissn

0341-2040

issn

1432-1750

pii

10.1007/s00408-015-9814-7

journal_volume

194

pub_type

杂志文章

相关文献

LUNG文献大全
  • Mechanics of the pleural space: fundamental concepts.

    abstract::The transmission of forces from the respiratory muscles to the lung across the extremely thin pleural space has been poorly understood because of the difficulty of accurately measuring pleural liquid and pleural surface pressure (lung static recoil or transpulmonary pressure). Recent results using relatively noninvasi...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/BF02714442

    authors: Lai-Fook SJ

    更新日期:1987-01-01 00:00:00

  • Correlation between polymorphonuclear leukocyte counts and levels of tumor necrosis factor-a in pleural fluid of patients with parapneumonic effusion.

    abstract::High concentrations of tumor necrosis factor-a (TNF), as well as excess of polymorphonuclear leukocytes (PMNs), are present in pleural fluid of patients with complicated parapneumonic effusion (CPPE). Several studies have shown that PMNs are capable of secreting TNF. However, the correlation between levels of TNF and ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s004080000100

    authors: Odeh M,Sabo E,Srugo I,Oliven A

    更新日期:2002-01-01 00:00:00

  • Management of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia: Review and a Single Center Experience.

    abstract:BACKGROUND:Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pulmonary condition, characterized by diffuse proliferation of neuroendocrine cells in the respiratory epithelium. DIPNECH lesions are less than 5 mm in size and are limited to the basement membrane with no invasion. There is li...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/s00408-018-0149-z

    authors: Myint ZW,McCormick J,Chauhan A,Behrens E,Anthony LB

    更新日期:2018-10-01 00:00:00

  • Drinking influences exhaled breath condensate acidity.

    abstract::Exhaled breath condensate analysis is a developing method for investigating airway pathology. Impact of food and drink on breath condensate composition has not been systematically addressed. The aim of the study was to follow exhaled breath condensate pH after drinking an acidic and a neutral beverage. Breath condensa...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-008-9086-6

    authors: Kullmann T,Barta I,Antus B,Horváth I

    更新日期:2008-07-01 00:00:00

  • Effect of CPAP on long-term mortality in overlap syndrome: is hypercapnic the best appropriate determinant?

    abstract::Overlap syndrome and represents a complex clinical condition in pulmonary medicine. We discuss in this letter factors related with mortality after long-term effects CPAP and key differences between hypercapnic versus hypoxemic overlap patients. ...

    journal_title:Lung

    pub_type: 评论,信件

    doi:10.1007/s00408-014-9613-6

    authors: Esquinas AM,Marrero FL,Esteva JN

    更新日期:2014-10-01 00:00:00

  • Association of gastroesophageal reflux disease symptoms with stable chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Patients with various chronic respiratory diseases have a higher incidence of gastroesophageal reflux disease (GERD)-related symptoms, but the mechanisms of the relationship between GERD symptoms and chronic obstructive pulmonary disease (COPD) remain unclear. The aim of the present study was to explore the ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-011-9365-5

    authors: Liang BM,Feng YL

    更新日期:2012-06-01 00:00:00

  • Alpha 1-adrenergic and muscarinic receptors in adult and neonatal rat type II pneumocytes.

    abstract::Binding characteristics of the alpha 1-adrenergic radioloigand [3H]prazosin, and the muscarinic cholinergic radioligand, [3H]quinuclidinyl benzilate, were determined both in intact cell preparations of rat alveolar type II pneumocytes (TIIPs) and in membrane preparations of rat lung tissue. Binding in adult and neonat...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/BF00165701

    authors: Keeney SE,Oelberg DG

    更新日期:1993-01-01 00:00:00

  • Idiopathic interstitial fibrosis.

    abstract::The lung has only a limited pattern of response to injury. Idiopathic interstitial fibrosis is a descriptive term, describing the end stage of one pattern of pulmonary fibrosis in which the inflammation lies within the structure of the alveolar walls and around vessels and bronchioli, in the interstitium. The disease ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/BF02718237

    authors: Lambe D

    更新日期:1990-01-01 00:00:00

  • Lung cancer screening: review and performance comparison under different risk scenarios.

    abstract::Lung cancer is currently one of the most common malignant diseases and is responsible for substantial mortality worldwide. Compared with never smokers, former smokers remain at relatively high risk for lung cancer, accounting for approximately half of all newly diagnosed cases in the US. Screening offers former smoker...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/s00408-013-9517-x

    authors: Tota JE,Ramanakumar AV,Franco EL

    更新日期:2014-02-01 00:00:00

  • Interferon γ stimulates accumulation of gas phase nitric oxide in differentiated cultures of normal and cystic fibrosis airway epithelial cells.

    abstract:BACKGROUND:Exhaled nitric oxide (NO) levels have been reported to be lower in patients with cystic fibrosis (CF) than in controls; however the mechanism(s) responsible and the effect on pathogenesis are unclear. The objective of these studies was to determine if the low levels of gas phase NO (gNO) could be reproduced ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-012-9395-7

    authors: Ostrowski LE,Stewart D,Hazucha M

    更新日期:2012-10-01 00:00:00

  • Assessing the Therapeutic Response to Pirfenidone in Idiopathic Pulmonary Fibrosis: Can We Do Better than with Forced Vital Capacity Alone?

    abstract:ABSTARCT:New anti-fibrotic agents for idiopathic pulmonary fibrosis (IPF) were approved based on the results of forced vital capacity (FVC) trends, although concerns were raised about the reliability of FVC as the only endpoint parameter. We hypothesized that IPF-specific multi-dimensional scores (Composite Physiologic...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-016-9963-3

    authors: Hosein K,Le J,Mura M

    更新日期:2017-02-01 00:00:00

  • The "Tree-in-Bud" Pattern on Chest CT: Radiologic and Microbiologic Correlation.

    abstract:BACKGROUND:Tree-in-bud (TIB) is a radiologic pattern seen on high-resolution chest CT reflecting bronchiolar mucoid impaction occasionally with additional involvement of adjacent alveoli. Its microbiologic significance has not been systematically evaluated. OBJECTIVES:We aimed to establish the incidence of the TIB pat...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-015-9759-x

    authors: Shimon G,Yonit WW,Gabriel I,Naama BR,Nissim A

    更新日期:2015-10-01 00:00:00

  • Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

    abstract::Bronchiectasis is characterized by deregulated inflammatory response and recurrent bacterial infection resulting in progressive lung damage and an irreversible dilatation of bronchi and bronchioles. Generally accepted model of the development of bronchiectasis is the "vicious cycle hypothesis" that proposes compromisi...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/s00408-018-0121-y

    authors: Nikolic A

    更新日期:2018-08-01 00:00:00

  • Changes in Red Cell Distribution Width During Hospitalization for Community-Acquired Pneumonia: Clinical Characteristics and Prognostic Significance.

    abstract:PURPOSE:We investigated outcomes of patients hospitalized with community-acquired pneumonia (CAP) according to the changes in red cell distribution width (RDW). METHODS:For 980 adults, clinical characteristics, outcomes during hospitalization for CAP (transfer to the intensive care unit, treatment with mechanical vent...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-016-9942-8

    authors: Gorelik O,Izhakian S,Barchel D,Almoznino-Sarafian D,Tzur I,Swarka M,Beberashvili I,Feldman L,Cohen N,Shteinshnaider M

    更新日期:2016-12-01 00:00:00

  • Adiponectin in Asthma and Obesity: Protective Agent or Risk Factor for More Severe Disease?

    abstract:PURPOSE:The relationship between asthma and obesity is well established, although the pathophysiological mechanisms linking both diseases remain unknown. Adiponectin is a hormone secreted by adipose cells, plays a role in the modulation of inflammation and may be the key linking these two types of inflammation. METHOD...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-015-9793-8

    authors: de Lima Azambuja R,da Costa Santos Azambuja LS,Costa C,Rufino R

    更新日期:2015-10-01 00:00:00

  • Klotho Regulates Cigarette Smoke-Induced Autophagy: Implication in Pathogenesis of COPD.

    abstract:INTRODUCTION:Chronic obstructive pulmonary disease is a progressive lung disease characterized by abnormal cellular responses to cigarette smoke, resulting in tissue destruction and airflow limitation. Autophagy is a fundamental cellular process that eliminates long-lived proteins and damaged organelles through lysosom...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-017-9997-1

    authors: Li L,Zhang M,Zhang L,Cheng Y,Tu X,Lu Z

    更新日期:2017-06-01 00:00:00

  • Long-term effect of vasodilator therapy in pulmonary hypertension due to COPD: a retrospective analysis.

    abstract:PURPOSE:Pulmonary hypertension (PH) due to COPD has dismal prognosis. We reviewed the long-term effect of PH-target therapy in severe PH-COPD. METHOD:Patients attending our PH-clinic were reviewed for PH-COPD receiving PH-target therapy. Baseline characteristics, death/transplantation until 2014, therapy, NYHA functio...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-014-9650-1

    authors: Fossati L,Müller-Mottet S,Hasler E,Speich R,Bloch KE,Huber LC,Ulrich Somaini S

    更新日期:2014-12-01 00:00:00

  • Discovery of alpha 1-antitrypsin deficiency.

    abstract::The author reviews the early history of alpha 1-antitrypsin (AAT) deficiency; the biochemical characterization of this inborn error of metabolism, its pattern of inheritance, frequency and predisposition to early, panacinar emphysema. The importance of the destructive element in emphysema and the gradual focusing on n...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/BF02718174

    authors: Eriksson S

    更新日期:1990-01-01 00:00:00

  • Acid glycosaminoglycans in experimental pleural effusions.

    abstract::Acid glycosaminoglycans (GAG) were quantitated and partially characterized in pleural effusions in guinea pigs with experimental allergic pleurisy. Increase of GAG in the pleural effusion preceded the increase of effusion volume. Effusion was associated with the presence of cuboidal mesothelial cells on visceral pleur...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/BF02714437

    authors: Satoh K,Arai H,Nagai H,Ito M,Sato H,Motomiya M,Konno K

    更新日期:1987-01-01 00:00:00

  • A phase II study of the docetaxel-carboplatin chemotherapy regimen in advanced non-small-cell lung cancer.

    abstract::The efficacy of the docetaxel-carboplatin combination chemotherapy was studied in various phase II studies. Based on these data we aimed to test the regimen in previously untreated patients with advanced advanced non-smoking lung cancer (NSCLC) with docetaxel 80 mg/m2 a standard dose of carboplatin at AUC = 5, in an a...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-005-2552-5

    authors: Tsavaris N,Kosmas C,Skopelitis E,Gennatas K,Zorbala A,Papas P,Gouveris P,Antypas G,Rokana S,Tzelepis G

    更新日期:2005-11-01 00:00:00

  • Comparing the relationship of Taxol-based chemotherapy response with P-glycoprotein and lung resistance-related protein expression in non-small cell lung cancer.

    abstract::Our aim was to compare Taxol-based chemotherapy response of non-small cell lung cancer (NSCLC) with P-glycoprotein (Pgp) or lung resistance protein expression (LRP). Immunohistochemical analyses were performed on multiple nonconsecutive sections of the biopsy specimens to detect Pgp and LPR expressions in 40 patients ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-003-1029-7

    authors: Chiou JF,Liang JA,Hsu WH,Wang JJ,Ho ST,Kao A

    更新日期:2003-01-01 00:00:00

  • Formoterol, fenoterol, and salbutamol as partial agonists for relaxation of maximally contracted guinea pig tracheae: comparison of relaxation with receptor binding.

    abstract::In severe asthma attacks beta 2-sympathomimetics lose part of their therapeutic efficiency. To elucidate this loss of efficiency in an experimental model we compared the relaxant potency of salbutamol (SAL), fenoterol (FEN), formoterol (FOR), and (-)-isoprenaline (ISO) in guinea pig tracheae partially and maximally pr...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/BF00174319

    authors: Lemoine H,Overlack C,Köhl A,Worth H,Reinhardt D

    更新日期:1992-01-01 00:00:00

  • Aerosol therapy in AIDS.

    abstract::Pneumocystis carinii pneumonia (PCP) is the most common presenting symptom in patients with the acquired immunodeficiency syndrome (AIDS). Clinical trials have shown that inhaled pentamidine, delivered by nebulizer, is an effective prophylaxis for PCP in high-risk patients, and can be used to treat mild to moderate ep...

    journal_title:Lung

    pub_type: 杂志文章,评审

    doi:10.1007/BF02718195

    authors: Newman SP,Simonds AK

    更新日期:1990-01-01 00:00:00

  • Exposure to vehicular pollution and assessment of respiratory function in urban inhabitants.

    abstract::Particulate matter less than PM(10) and aromatic chemicals formed during incomplete combustion of organic matter are major environmental pollutants because of their toxic potential. The present study reports on the respiratory morbidity pattern of people exposed to auto exhaust as a result of the traffic load consisti...

    journal_title:Lung

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00408-007-9015-0

    authors: Chattopadhyay BP,Mukherjee A,Mukherjee K,Roychowdhury A

    更新日期:2007-09-01 00:00:00

  • Effects of vitamin E deficiency on bleomycin-induced pulmonary fibrosis in the hamster.

    abstract::The effects of vitamin E deficiency on bleomycin (BLM)-induced pulmonary fibrosis have been studied by analyses of pressure volume (PV) curves and morphological examinations. Golden hamsters were divided into groups on a control diet (group C), vitamin E-deficient diet (E), control diet with BLM treatment (CB), and vi...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/BF02714044

    authors: Nakamura H,Sato S,Takahashi K

    更新日期:1988-01-01 00:00:00

  • Volumetric capnography for the evaluation of pulmonary disease in adult patients with cystic fibrosis and noncystic fibrosis bronchiectasis.

    abstract::This study was designed to use volumetric capnography to evaluate the breathing pattern and ventilation inhomogeneities in patients with chronic sputum production and bronchiectasis and to correlate the phase 3 slope of the capnographic curve to spirometric measurements. Twenty-four patients with cystic fibrosis (CF) ...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-009-9213-z

    authors: Veronez L,Moreira MM,Soares ST,Pereira MC,Ribeiro MA,Ribeiro JD,Terzi RG,Martins LC,Paschoal IA

    更新日期:2010-06-01 00:00:00

  • Increased pleural soluble fas ligand (sFasL) levels in tuberculosis pleurisy and its relation with T-helper type 1 cytokines.

    abstract::Tuberculosis (TB) pleurisy is accepted to be the best model for evaluating the local protective cellular immune response to Mycobacterium tuberculosis (MTB) since it can be spontaneously self-cured. Therefore, we aimed to evaluate the involvement of cytokines and the soluble apoptosis-modulating factors sFas and sFasL...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-008-9107-5

    authors: Budak F,Uzaslan EK,Cangür S,Göral G,Oral HB

    更新日期:2008-09-01 00:00:00

  • Ischiocrural Strength May Be a Better Prognostic Marker Than Quadriceps Strength in COPD.

    abstract::It is well known that chronic obstructive pulmonary disease (COPD) patients present with muscle dysfunction that may not correlate with the degree of severity of airflow obstruction. Historically, the strength deficit of the knee extensor musculature (quadriceps) has been described as an independent factor of mortalit...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-018-0164-0

    authors: Pleguezuelos E,Guirao L,Moreno E,Samitier B,Ortega P,Vila X,Garnacho-Castaño MV,Majó M,Ovejero L,Miravitlles M

    更新日期:2018-12-01 00:00:00

  • Transition of PH patients from sildenafil to tadalafil: feasibility and practical considerations.

    abstract:BACKGROUND:Sildenafil was the only phosphodiesterase-5 inhibitor available for the treatment of pulmonary arterial hypertension (PAH) until the approval and availability of once-daily tadalafil. Since no direct comparative study is likely to be performed between these agents, we sought to evaluate the feasibility of tr...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-012-9408-6

    authors: Shlobin OA,Brown AW,Weir N,Ahmad S,Lemma M,Nathan SD

    更新日期:2012-10-01 00:00:00

  • Heme oxygenase-1 promoter polymorphism is associated with risk of malignant mesothelioma.

    abstract:BACKGROUND:Malignant mesothelioma is an aggressive tumor of serosal surfaces that is closely associated with asbestos exposure which induces oxidative stress. Heme oxygenase (HO)-1, a rate-limiting enzyme of heme degradation, plays a protective role against oxidative stress. The HO-1 gene promoter carries (GT)n repeats...

    journal_title:Lung

    pub_type: 杂志文章

    doi:10.1007/s00408-012-9371-2

    authors: Murakami A,Fujimori Y,Yoshikawa Y,Yamada S,Tamura K,Hirayama N,Terada T,Kuribayashi K,Tabata C,Fukuoka K,Tamaoki T,Nakano T

    更新日期:2012-06-01 00:00:00