Papillary carcinomas are a special histological type of
breast cancer and have a relatively good outcome. We characterized the genomic and phenotypic characteristics of
papillary carcinomas to determine whether they would constitute an entity distinct from grade- and oestrogen receptor (ER)-matched invasive
ductal carcinomas of no special type (IDC-NSTs). The phenotype of 63
papillary carcinomas of the breast and grade- and ER-matched IDC-NSTs was determined by immunohistochemistry.
DNA of sufficient quality was extracted from 49 microdissected
papillary carcinomas and 49 microdissected grade- and ER-matched IDC-NSTs. These samples were subjected to high-resolution microarray-based comparative genomic hybridization (aCGH) and Sequenom MassARRAY sequencing analysis of 19 known oncogenes.
Papillary carcinomas were predominantly of low histological grade, expressed immunohistochemical markers consistent with a
luminal phenotype, and a lower rate of
lymph node metastasis and p53 expression than grade- and ER-matched IDC-NSTs.
Papillary carcinomas displayed less genomic aberrations than grade- and ER-matched IDC-NSTs; however, the patterns of gene copy number aberrations found in
papillary carcinomas were similar to those of ER- and grade-matched IDC-NSTs, including 16q losses. Furthermore, PIK3CA mutations were found in 43% and 29% of
papillary carcinomas and grade- and ER-matched IDC-NSTs, respectively. The genomic profiles of encapsulated, solid and invasive
papillary carcinomas, the three morphological subtypes, were remarkably similar. Our results demonstrate that
papillary carcinomas are a homogeneous special histological type of
breast cancer. The similarities in the genomic profiles of
papillary carcinomas and grade- and ER-matched IDC-NSTs suggest that
papillary carcinomas may be best positioned as part of the spectrum of ER-positive breast
cancers, rather than as a distinct entity. Furthermore, the good prognosis of
papillary carcinomas may stem from the low rates of
lymph node metastasis and p53 expression, low number of gene copy number aberrations and high prevalence of PIK3CA mutations.