PMID- 19670217
OWN - NLM
STAT- MEDLINE
DCOM- 20091009
LR  - 20220129
IS  - 1096-9896 (Electronic)
IS  - 0022-3417 (Linking)
VI  - 219
IP  - 1
DP  - 2009 Sep
TI  - Does chromosome 17 centromere copy number predict polysomy in breast cancer? A 
      fluorescence in situ hybridization and microarray-based CGH analysis.
PG  - 16-24
LID - 10.1002/path.2574 [doi]
AB  - Approximately 8% of breast cancers show increased copy numbers of chromosome 17 
      centromere (CEP17) by fluorescence in situ hybridization (FISH) (ie average CEP17 
      >3.0 per nucleus). Currently, this pattern is believed to represent polysomy of 
      chromosome 17. HER2-amplified cancers have been shown to harbour complex patterns 
      of genetic aberrations of chromosome 17, in particular involving its long arm. We 
      hypothesized that aberrant copy numbers of CEP17 in FISH assays may not 
      necessarily represent true chromosome 17 polysomy. Eighteen randomly selected 
      CEP17 polysomic cases and a control group of ten CEP17 disomic cases, as defined 
      by dual-colour FISH, were studied by microarray-based comparative genomic 
      hybridization (aCGH), which was performed on microdissected samples using a 32K 
      tiling-path bacterial artificial chromosome microarray platform. Additional FISH 
      probes were employed for SMS (17p11.2) and RARA (17q21.2) genes, as references 
      for chromosome 17 copy number. Microarray-based comparative genomic hybridization 
      revealed that 11 out of the 18 polysomic cases harboured gains of 17q with 
      involvement of the centromere, one displayed 17q gain sparing the centromeric 
      region, and only one could be defined as polysomic. The remaining five cases 
      displayed amplification of the centromeric region. Among these, one case, showing 
      score 2+ by immunohistochemistry and 8.5 HER2 mean copy number, was classified as 
      not amplified by HER2/CEP17 ratio and as amplified by HER2/SMS ratio. Our results 
      suggest that true chromosome 17 polysomy is likely to be a rare event in breast 
      cancer and that CEP17 copy number greater than 3.0 in FISH analysis is frequently 
      related to gain or amplification of the centromeric region. Larger studies 
      investigating the genetic profiles of CEP17 polysomic cases are warranted.
FAU - Marchio, Caterina
AU  - Marchio C
AD  - The Breakthrough Breast Cancer Research Centre-Institute of Cancer Research, 
      London, UK.
FAU - Lambros, Maryou B
AU  - Lambros MB
FAU - Gugliotta, Patrizia
AU  - Gugliotta P
FAU - Di Cantogno, Ludovica Verdun
AU  - Di Cantogno LV
FAU - Botta, Cristina
AU  - Botta C
FAU - Pasini, Barbara
AU  - Pasini B
FAU - Tan, David S P
AU  - Tan DS
FAU - Mackay, Alan
AU  - Mackay A
FAU - Fenwick, Kerry
AU  - Fenwick K
FAU - Tamber, Narinder
AU  - Tamber N
FAU - Bussolati, Gianni
AU  - Bussolati G
FAU - Ashworth, Alan
AU  - Ashworth A
FAU - Reis-Filho, Jorge S
AU  - Reis-Filho JS
FAU - Sapino, Anna
AU  - Sapino A
LA  - eng
GR  - BREAST CANCER NOW RESEARCH CENTRE/BCN_/Breast Cancer Now/United Kingdom
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Pathol
JT  - The Journal of pathology
JID - 0204634
RN  - 0 (RARA protein, human)
RN  - 0 (Receptors, Retinoic Acid)
RN  - 0 (Retinoic Acid Receptor alpha)
RN  - EC 2.7.10.1 (Receptor, ErbB-2)
SB  - IM
CIN - J Pathol. 2009 Sep;219(1):1-2. PMID: 19670216
MH  - Breast Neoplasms/*genetics
MH  - *Centromere
MH  - *Chromosomes, Human, Pair 17
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Gene Amplification
MH  - Gene Expression Regulation, Neoplastic
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Microarray Analysis
MH  - Polyploidy
MH  - Receptor, ErbB-2/genetics
MH  - Receptors, Retinoic Acid/genetics
MH  - Retinoic Acid Receptor alpha
EDAT- 2009/08/12 09:00
MHDA- 2009/10/10 06:00
CRDT- 2009/08/12 09:00
PHST- 2009/08/12 09:00 [entrez]
PHST- 2009/08/12 09:00 [pubmed]
PHST- 2009/10/10 06:00 [medline]
AID - 10.1002/path.2574 [doi]
PST - ppublish
SO  - J Pathol. 2009 Sep;219(1):16-24. doi: 10.1002/path.2574.