Infiltrating epitheliosis of the breast: Characterization of histological features, immunophenotype and genomic profile Journal Article

   


Authors: Eberle, C. A.; Piscuoglio, S.; Rakha, E. A.; Ng, C. K. Y.; Geyer, F. C.; Edelweiss, M.; Sakr, R. A.; Weigelt, B.; Reis, J. S.; Ellis, I. O.
Article Title: Infiltrating epitheliosis of the breast: Characterization of histological features, immunophenotype and genomic profile
Abstract: Aims: Infiltrating epitheliosis is a rare complex sclerosing lesion (CSL) of the breast, characterized by infiltrating ducts immersed in a scleroelastotic stroma and filled with cells having architectural and cytological patterns reminiscent of those of usual ductal hyperplasia. In this study we sought to define the molecular characteristics of infiltrating epitheliosis. Methods and results: Eight infiltrating epitheliosis, adjacent breast lesions (one usual ductal hyperplasia, one papilloma, one micropapillary ductal carcinoma in situ and one low-grade adenosquamous carcinoma), and corresponding normal breast tissue from each case were microdissected and subjected to massively parallel sequencing analysis targeting all coding regions of 254 genes mutated recurrently in breast cancer and/or related to DNA repair. Mutations in components of the PI3K pathway were found in all infiltrating epitheliosis samples, seven of which harboured PIK3CA hotspot mutations, while the remaining case displayed a PIK3R1 somatic mutation. Conclusions: Somatic mutations affecting PI3K pathway genes were found to be highly prevalent in infiltrating epitheliosis, suggesting that these lesions may be neoplastic rather than hyperplastic. The landscape of somatic genetic alterations found in infiltrating epitheliosis is similar to that of radial scars/CSLs, suggesting that infiltrating epitheliosis may represent one end of this spectrum of lesions.
Keywords: immunohistochemistry; cancer risk; hyperplasia; in-situ; massively parallel sequencing; biopsies; pi3k pathway; pik3ca mutations; infiltrating; micropapillary carcinomas; tumor genetic-heterogeneity; complex sclerosing lesions; epitheliosis; radial scars
Journal Title: Histopathology
Volume: 68
Issue: 7
ISSN: 0309-0167
Publisher: Wiley Blackwell  
Date Published: 2016-06-01
Start Page: 1030
End Page: 1039
Language: English
ACCESSION: WOS:000378935100009
DOI: 10.1111/his.12897
PROVIDER: wos
PMCID: PMC4957818
PUBMED: 26497122
Notes: Article -- Source: Wos
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MSK Authors
  1. Rita Sakr
    61 Sakr
  2. Marcia Edelweiss
    104 Edelweiss
  3. Carey Eberle
    17 Eberle
  4. Britta Weigelt
    634 Weigelt
  5. Jorge Sergio Reis-Filho
    640 Reis-Filho
  6. Kiu Yan Charlotte Ng
    155 Ng
  7. Salvatore Piscuoglio
    130 Piscuoglio
  8. Felipe Correa Geyer
    108 Correa Geyer
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