Comparative genomic hybridization of ductal carcinoma in situ of the breast—evidence of multiple genetic pathways

H Buerger, F Otterbach, R Simon… - The Journal of …, 1999 - Wiley Online Library
H Buerger, F Otterbach, R Simon, C Poremba, R Diallo, T Decker, L Riethdorf…
The Journal of pathology, 1999Wiley Online Library
There is strong evidence that ductal carcinoma in situ (DCIS) represents a precursor lesion
of invasive breast cancer. In order to analyse specific chromosomal alterations of DCIS, 38
paraffin‐embedded specimens of DCIS and six associated invasive carcinomas were
examined by means of comparative genomic hybridization (CGH). Losses of 16q material
were seen almost exclusively in well‐and intermediately‐differentiated DCIS. These two
subgroups differed in the average number of genetic imbalances, 2· 5 and 5· 5 respectively …
Abstract
There is strong evidence that ductal carcinoma in situ (DCIS) represents a precursor lesion of invasive breast cancer. In order to analyse specific chromosomal alterations of DCIS, 38 paraffin‐embedded specimens of DCIS and six associated invasive carcinomas were examined by means of comparative genomic hybridization (CGH). Losses of 16q material were seen almost exclusively in well‐ and intermediately‐differentiated DCIS. These two subgroups differed in the average number of genetic imbalances, 2·5 and 5·5 respectively. Additionally, a higher frequency of gains of 1q and losses of 11q material was seen in intermediately‐differentiated in contrast to well‐differentiated DCIS. Poorly‐differentiated DCIS displayed a higher frequency of amplifications (17q12, 11q13) and a higher average rate of genetic imbalances (7·1). Analysis of adjacent invasive breast carcinoma revealed a genetic pattern almost identical to the one seen in the DCIS counterpart. These data characterize DCIS as a genetically far‐advanced, heterogeneous lesion and as a direct precursor of invasive breast cancer. Copyright © 1999 John Wiley & Sons, Ltd.
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