The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma

Nat Commun. 2019 Jul 16;10(1):3108. doi: 10.1038/s41467-019-10902-w.

Abstract

Pulmonary lymphoepithelioma-like carcinoma (LELC) is a rare and distinct subtype of primary lung cancer characterized by Epstein-Barr virus (EBV) infection. Herein, we reported the mutational landscape of pulmonary LELC using whole-exome sequencing, targeted deep sequencing and single-nucleotide polymorphism arrays. We identify a low degree of somatic mutation but widespread existence of copy number variations. We reveal predominant signature 2 mutations and frequent loss of type I interferon genes that are involved in the host-virus counteraction. Integrated analysis shows enrichment of genetic lesions affecting several critical pathways, including NF-κB, JAK/STAT, and cell cycle. Notably, multi-dimensional comparison unveils that pulmonary LELC resemble NPC but are clearly different from other lung cancers, natural killer/T-cell lymphoma or EBV-related gastric cancer in terms of genetic features. In all, our study illustrates a distinct genomic landscape of pulmonary LELC and provides a road map to facilitate genome-guided personalized treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Carcinoma / genetics*
  • Carcinoma / therapy
  • Carcinoma / virology
  • DNA Mutational Analysis
  • Epstein-Barr Virus Infections / genetics*
  • Epstein-Barr Virus Infections / therapy
  • Epstein-Barr Virus Infections / virology
  • Female
  • Genomics
  • Herpesvirus 4, Human / isolation & purification*
  • Humans
  • Lung / pathology
  • Lung / virology
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / therapy
  • Lung Neoplasms / virology
  • Male
  • Middle Aged
  • Precision Medicine / methods