Whole Genome Sequencing (Wgs) To Reveal The Distinct Genomic Landscape Of Pulmonary Lymphoepithelioma-Like Carcinoma (Lelc).

JOURNAL OF CLINICAL ONCOLOGY(2016)

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摘要
1530Background: Pulmonary lymphoepithelioma-like carcinoma (LELC) is a rare and distinct type of primary lung cancer which is characterized by Epstein-Barr virus (EBV) infection. The genomic alterations of pulmonary LELC remains unknown and well-established treatment strategies are not available. We described the first whole genome sequencing (WGS) study of this virus-associated lung cancer. Methods: Forty-one fresh LELC tumors and adjacent normal tissues underwent WGS on Complete Genomics Platform with ~100× of depth and over 95% of coverage. Somatic mutations, copy number alterations, structural rearrangements were identified by in-depth bioinformatic analyses. Results: The demographics of 41 patients enrolled in the study: median age 53 years (range: 32-69), female 20 (48.8%) and history of tobacco smoking 12 (29.3%). A total of 1674 mutations including 1172 non-silent mutations, 483 silent mutations and 19 indels were identified. The mutation rate of pulmonary LELC is remarkably low compared with othe...
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