Invasive tubular carcinoma of the breast frequently is clonally related to flat epithelial atypia and low-grade ductal carcinoma in situ

Am J Surg Pathol. 2009 Nov;33(11):1646-53. doi: 10.1097/PAS.0b013e3181adfdcf.

Abstract

Low-grade precursor lesions, such flat epithelial atypia (FEA), low-grade ductal carcinoma in situ (lg-DCIS), and lobular neoplasia (LN) often coexist with invasive tubular carcinomas (TCs) of the breast. To evaluate a possible clonal relationship, we have examined a series of 27 TC and the surrounding putative precursor lesions using loss of heterozygosity analysis and mitochondrial DNA sequencing. In these lesions (22 FEA, 10 lg-DCIS, 3 LN), loss of heterozygosity was most frequently observed on the long arm of chromosome 16 as well as at chromosome 8p21, 3p14, 1p36 and 11q14 with a high degree of homology of allelic losses between FEA, lg-DCIS and tubular carcinomas. In the adjacent invasive tubular carcinomas, mitochondrial DNA sequencing revealed identical mutation patterns in 50% of the lg-DCIS and in 12 of 21 (57%) informative cases of FEA. No direct association was seen between TC and LN or columnar cell lesions without nuclear atypia. Our data indicate, that in the majority of cases lg-DCIS and FEA are directly related to tubular breast cancer with a possible precursor role.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / chemistry
  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology*
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / analysis
  • Breast Neoplasms / chemistry
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology*
  • Carcinoma, Intraductal, Noninfiltrating / chemistry
  • Carcinoma, Intraductal, Noninfiltrating / genetics
  • Carcinoma, Intraductal, Noninfiltrating / pathology*
  • Carcinoma, Lobular / chemistry
  • Carcinoma, Lobular / genetics
  • Carcinoma, Lobular / pathology*
  • Clone Cells
  • DNA Mutational Analysis
  • DNA, Mitochondrial / analysis
  • DNA, Neoplasm / analysis
  • Epithelial Cells / chemistry
  • Epithelial Cells / pathology
  • Female
  • Humans
  • Loss of Heterozygosity
  • Middle Aged
  • Neoplasms, Multiple Primary

Substances

  • Biomarkers, Tumor
  • DNA, Mitochondrial
  • DNA, Neoplasm