Identification of a characteristic copy number alteration profile by high-resolution single nucleotide polymorphism arrays associated with metastatic sporadic colorectal cancer

Cancer. 2014 Jul 1;120(13):1948-59. doi: 10.1002/cncr.28681. Epub 2014 Mar 25.

Abstract

Background: Metastatic dissemination is the most frequent cause of death in patients with sporadic colorectal cancer (sCRC). It is believed that the metastatic process is related at least in part to a specific background of genetic alterations accumulated in cells from primary tumors, and the ability to detect such alterations is critical for the identification of patients with sCRC who are at risk of developing metastases.

Methods: The authors used high-resolution, 500-K single nucleotide polymorphism arrays to identify copy number alteration profiles present at diagnosis in primary tumors from patients with metastatic (n = 23) versus nonmetastatic (n = 26) sCRC.

Results: The results revealed a characteristic pattern of copy number alterations in metastatic sCRC tumors that involved losses of 23 regions at chromosomes 1p, 17p, and 18q, together with gains of 35 regions at chromosomes 7 and 13q.

Conclusions: In line with expectations, the copy number profile investigated involved multiple genes that were associated previously with sCRC (ie, SMAD2) and/or the metastatic process (ie, podocalyxin-like [PODXL]), and it also was associated with a poorer outcome.

Keywords: colorectal carcinoma; copy number change; liver metastases; single nucleotide polymorphism array.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Chemotherapy, Adjuvant
  • Chromosome Aberrations*
  • Colorectal Neoplasms / drug therapy
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology*
  • Colorectal Neoplasms / surgery
  • DNA Copy Number Variations*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Liver Neoplasms / secondary
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Neoplasm Staging
  • Polymorphism, Single Nucleotide*

Substances

  • Neoplasm Proteins