Clonal relationships between lobular carcinoma in situ and other breast malignancies. Academic Article uri icon

Overview

abstract

  • BACKGROUND: Recent evidence suggests that lobular carcinoma in situ (LCIS) can be a clonal precursor of invasive breast cancers of both the ductal and lobular phenotypes. We sought to confirm these findings with an extensive study of fresh frozen breast specimens from women undergoing mastectomy. METHODS: Patients with a history of LCIS presenting for therapeutic mastectomy were identified prospectively. Frozen tissue blocks were collected, screened for lesions of interest, and subjected to microdissection and DNA extraction. Copy number profiling, whole-exome sequencing, or both were performed. Clonal relatedness was assessed using specialized statistical techniques developed for this purpose. RESULTS: After exclusions for genotyping failure, a total of 84 lesions from 30 patients were evaluated successfully. Strong evidence of clonal relatedness was observed between an LCIS lesion and the invasive cancer for the preponderance of cases with lobular carcinoma. Anatomically distinct in situ lesions of both ductal and lobular histology were also shown to be frequently clonally related. CONCLUSIONS: These data derived from women with LCIS with or without invasive cancer confirm that LCIS is commonly the clonal precursor of invasive lobular carcinoma and that distinct foci of LCIS frequently share a clonal origin, as do foci of LCIS and ductal carcinoma in situ.

publication date

  • June 23, 2016

Research

keywords

  • Breast Carcinoma In Situ
  • Breast Neoplasms
  • Carcinoma, Lobular
  • Clonal Evolution

Identity

PubMed Central ID

  • PMC4918003

Scopus Document Identifier

  • 84978148567

Digital Object Identifier (DOI)

  • 10.1186/s13058-016-0727-z

PubMed ID

  • 27334989

Additional Document Info

volume

  • 18

issue

  • 1