High-resolution genomic profiles of human lung cancer

Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9625-30. doi: 10.1073/pnas.0504126102. Epub 2005 Jun 27.

Abstract

Lung cancer is the leading cause of cancer mortality worldwide, yet there exists a limited view of the genetic lesions driving this disease. In this study, an integrated high-resolution survey of regional amplifications and deletions, coupled with gene-expression profiling of non-small-cell lung cancer subtypes, adenocarcinoma and squamous-cell carcinoma (SCC), identified 93 focal copy-number alterations, of which 21 span <0.5 megabases and contain a median of five genes. Whereas all known lung cancer genes/loci are contained in the dataset, most of these recurrent copy-number alterations are previously uncharacterized and include high-amplitude amplifications and homozygous deletions. Notably, despite their distinct histopathological phenotypes, adenocarcinoma and SCC genomic profiles showed a nearly complete overlap, with only one clear SCC-specific amplicon. Among the few genes residing within this amplicon and showing consistent overexpression in SCC is p63, a known regulator of squamous-cell differentiation. Furthermore, intersection with the published pancreatic cancer comparative genomic hybridization dataset yielded, among others, two focal amplicons on 8p12 and 20q11 common to both cancer types. Integrated DNA-RNA analyses identified WHSC1L1 and TPX2 as two candidates likely targeted for amplification in both pancreatic ductal adenocarcinoma and non-small-cell lung cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Carrier Proteins / genetics
  • Cell Cycle Proteins / genetics
  • Cell Line, Tumor
  • DNA-Binding Proteins
  • Databases, Genetic
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic*
  • Genes, Tumor Suppressor
  • Genome, Human*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Lung Neoplasms / genetics*
  • Microtubule-Associated Proteins / genetics
  • Mutation / genetics*
  • Neoplasm Proteins / genetics
  • Nuclear Proteins / genetics
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Phosphoproteins / genetics
  • Trans-Activators / genetics
  • Transcription Factors
  • Tumor Suppressor Proteins

Substances

  • Carrier Proteins
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Microtubule-Associated Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • Phosphoproteins
  • TP63 protein, human
  • TPX2 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins
  • Histone-Lysine N-Methyltransferase
  • NSD3 protein, human