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  • Comprehensive genomic analy...
    RUDIN, Charles M; DURINCK, Steffen; RIVERS, Celina Sanchez; FOO, Catherine K; BHATT, Deepali; STINSON, Jeremy; GNAD, Florian; HAVERTY, Peter M; GENTLEMAN, Robert; CHAUDHURI, Subhra; JANAKIRAMAN, Vasantharajan; JAISWAL, Bijay S; STAWISKI, Eric W; PARIKH, Chaitali; WENLIN YUAN; ZEMIN ZHANG; KOEPPEN, Hartmut; WU, Thomas D; STERN, Howard M; YAUCH, Robert L; HUFFMAN, Kenneth E; PASKULIN, Diego D; ILLEI, Peter B; POIRIER, John T; VARELLA-GARCIA, Marileila; GAZDAR, Adi F; DE SAUVAGE, Frederic J; BOURGON, Richard; MINNA, John D; BROCK, Malcolm V; SESHAGIRI, Somasekar; MODRUSAN, Zora; SHAMES, David S; BERGBOWER, Emily A; YINGHUI GUAN; SHIN, James; GUILLORY, Joseph

    Nature genetics, 10/2012, Letnik: 44, Številka: 10
    Journal Article

    Small-cell lung cancer (SCLC) is an exceptionally aggressive disease with poor prognosis. Here, we obtained exome, transcriptome and copy-number alteration data from approximately 53 samples consisting of 36 primary human SCLC and normal tissue pairs and 17 matched SCLC and lymphoblastoid cell lines. We also obtained data for 4 primary tumors and 23 SCLC cell lines. We identified 22 significantly mutated genes in SCLC, including genes encoding kinases, G protein-coupled receptors and chromatin-modifying proteins. We found that several members of the SOX family of genes were mutated in SCLC. We also found SOX2 amplification in ∼27% of the samples. Suppression of SOX2 using shRNAs blocked proliferation of SOX2-amplified SCLC lines. RNA sequencing identified multiple fusion transcripts and a recurrent RLF-MYCL1 fusion. Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation. These data provide an in-depth view of the spectrum of genomic alterations in SCLC and identify several potential targets for therapeutic intervention.