Copy number analysis of ductal carcinoma in situ with and without recurrence.

2015-09

Gorringe, Kylie L

Hunter, Sally M

Pang, Jia-Min

Opeskin, Ken

Hill, Prue

Rowley, Simone M

Choong, David Y H

Thompson, Ella R

Dobrovic, Alexander

Fox, Stephen B

Mann, G Bruce

Campbell, Ian G

Journal Article

0000-0003-3414-112X

0000-0001-5681-2022

10.1038/modpathol.2015.75

Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive breast cancer and a frequent mammographic finding requiring treatment. Up to 25% of DCIS can recur and half of recurrences are invasive, but there are no reliable biomarkers for recurrence. We hypothesised that copy number aberrations could predict likelihood of recurrence. We analysed a cohort of pure DCIS cases treated only with wide local excision for genome-wide copy number and loss of heterozygosity using Affymetrix OncoScan MIP arrays. Cases included those without recurrence within 7 years (n = 25) and with recurrence between 1 and 5 years after diagnosis (n = 15). Pure DCIS were broadly similar in copy number changes compared with invasive breast cancer, with the consistent exception of a greater frequency of ERBB2 amplification in DCIS. There were no significant differences in age or ER status between the cases with a recurrence vs those without. Overall, the DCIS cases with recurrence had more copy number events than the DCIS without recurrence. The increased copy number appeared non-random with several genomic regions showing an increase in frequency in recurrent cases, including 20 q gain, ERBB2 amplification and 15q loss. Copy number changes may provide prognostic information for DCIS recurrence, but validation in additional cohorts is required.

link

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015; 28(9): 1174-84

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc