Chromosome 20 aberrations at the diploid-aneuploid transition in sporadic colorectal cancer

Massimo Maffei, Sandra Mongera, Libia Terpstra, Alessandra Donadini, Quirinus J M Voorham, Gerrit A. Meijer, Walter Giaretti, Beatriz Carvalho, Patrizio Castagnola

Research output: Contribution to journalArticlepeer-review


DNA aneuploid sublines in sporadic colorectal cancers (CRCs) are quite frequent (about 85%) and likely the consequence of chromosomal instability and DNA copy number aberrations (CNAs). In order to gain insight into the mechanisms of the diploid-aneuploid transition in CRCs, we compared the CNA status in both diploid and aneuploid sublines. We used fresh/frozen material from 17 aneuploid CRCs, which was separated into 17 DNA diploid and 17 aneuploid sublines using enrichment of the epithelial component by multiparameter flow cytometry and sorting. CNA status of both sublines was obtained by array comparative genomic hybridization. The DNA diploid sublines from the aneuploid CRCs showed already CNAs, in particular, gains at 20p and 20q. The same aberrations were detected at increased frequencies in the corresponding DNA aneuploid sublines. Moreover, the very frequent gains/losses of chromosomes 4, 7, 8, 13, 15, and 18 in the DNA aneuploid sublines were absent or rare in the DNA diploid sublines from the same sporadic aneuploid CRCs. The comparison of the DNA diploid and aneuploid sublines from aneuploid CRCs suggests that 20p and 20q gains may play a role in the diploid-aneuploid transition. The 20q chromosomal arm appears of particular interest since it harbors several genes implicated in chromosomal instability.

Original languageEnglish
Pages (from-to)9-14
Number of pages6
JournalCytogenetic and Genome Research
Issue number1
Publication statusPublished - Nov 19 2014


  • Aneuploidy
  • Chromosomal instability
  • Colorectal cancer
  • DNA copy number aberrations
  • Tumor heterogeneity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology
  • Medicine(all)


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