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Cited by 317

The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Open access
Fernandez-Cuesta, Lynnette, Peifer, Martin, Lu, Xin, Sun, Ruping, Ozretić, Luka, Seidel, Danila, Zander, Thomas, Leenders, Frauke, George, Julie, Müller, Christian, Dahmen, Ilona, Pinther, Berit, Bosco, Graziella, Konrad, Kathryn, Altmüller, Janine, Nürnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M., Bogus, Magdalena, Soltermann, Alex, Brustugun, Odd Terje, Helland, Åslaug, Solberg, Steinar, Lund-Iversen, Marius, Ansén, Sascha, Stoelben, Erich, Wright, Gavin M., Russell, Prudence, Wainer, Zoe, Solomon, Benjamin, Field, John K., Hyde, Russell, Davies, Michael P. A., Heukamp, Lukas C., Petersen, Iver, Perner, Sven, Lovly, Christine M., Cappuzzo, Federico, Travis, William D., Wolf, Jürgen, Vingron, Martin, Brambilla, Elisabeth, Haas, Stefan A., Buettner, Reinhard, Thomas, Roman K.·2014·Nature Communications

Abstract

Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n=54), genome/exome (n=44) and transcriptome (n=69) sequencing of pulmonary carcinoids and observe frequent mutations in chromatin-remodelling genes. Covalent histone modifiers and subunits of the SWI/SNF complex are mutated in 40 and 22.2% of the cases, respectively, with MEN1, PSIP1 and ARID1A being recurrently affected. In contrast to small-cell lung cancer and large-cell neuroendocrine lung tumours, TP53 and RB1 mutations are rare events, suggesting that pulmonary carcinoids are not early progenitor lesions of the highly aggressive lung neuroendocrine tumours but arise through independent cellular mechanisms. These data also suggest that inactivation of chromatin-remodelling genes is sufficient to drive transformation in pulmonary carcinoids. Pulmonary carcinoids account for about 2% of pulmonary neoplasms. Here, the authors carry out gene copy number analysis, genome/exome, and transcriptome sequencing of pulmonary carcinoids and identify frequent mutations in chromatin-remodelling genes that can drive tumorigenesis in these tumours.

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Metadata

Authors
Fernandez-Cuesta, L., Peifer, M., Lu, X., Sun, R., Ozretić, L., Seidel, D., Zander, T., Leenders, F., George, J., Müller, C., Dahmen, I., Pinther, B., Bosco, G., Konrad, K., Altmüller, J., Nürnberg, P., Achter, V., Lang, U., Schneider, P. M., Bogus, M., Soltermann, A., Brustugun, O. T., Helland, Å., Solberg, S., Lund-Iversen, M., Ansén, S., Stoelben, E., Wright, G. M., Russell, P., Wainer, Z., Solomon, B., Field, J. K., Hyde, R., Davies, M. P. A., Heukamp, L. C., Petersen, I., Perner, S., Lovly, C. M., Cappuzzo, F., Travis, W. D., Wolf, J., Vingron, M., Brambilla, E., Haas, S. A., Buettner, R., & Thomas, R. K.
Venue
Nature Communications
Published
2014-03-27
Volume
5
Issue
1
Pages
3518-3518
ISSN
2041-1723 (ISSN-L)
OpenAlex
W2143827882
Cited by
317
References
8
FWCI
10.59
Type
journal article
Language
en
Open access
bronze

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