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Cytogenetic heterogeneity and clonal evolution in synchronous bilateral breast carcinomas and their lymph node metastases from a male patient without any detectable BRCA2 germline mutation

  • A Adeyinka
  • F Mertens
  • L Bondeson
  • J P Garne
  • A Borg
  • B Baldetorp
  • N Pandis
Publishing year: 2000-04-01
Language: English
Pages: 42-47
Publication/Series: Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
Volume: 118
Issue: 1
Document type: Journal article
Publisher: Elsevier

Abstract english

Two synchronous bilateral breast carcinomas and their matched lymph node metastases from a 70-year-old man were cytogenetically analyzed. All four tumors were near-diploid, and except for the primary tumor from the right breast, had a 45,X,-Y clone in common. The loss of the Y chromosome was, however, common to all four tumors, whereas metaphase cells from peripheral blood lymphocytes showed a normal 46, XY chromosome complement. The primary tumor from the right breast was monoclonal, with loss of the Y chromosome and gain of 1q, whereas its metastasis had two related clones: the 45,X,-Y clone, and the other a more complex version of the clone in the primary tumor, with inv(3), -14, and del(16)(q13) as additional changes. The primary tumor from the left breast was polyclonal with three unrelated clones: 45,X,-Y/45,XY,-18/47,XY,+20, two of which were present in its metastasis. DNA flow cytometric studies showed diploidy for both primary tumors. No mutation in the BRCA2 gene was found on analysis of DNA from peripheral blood lymphocytes. The present findings show that del(16)(q13) is a recurrent finding among male breast carcinomas and that some of the primary cytogenetic abnormalities, as well as the pattern of chromosomal changes during the progression of sporadic breast carcinoma in the male, are similar to those in the female. In addition, the loss of the Y chromosome in the tumors but not in peripheral blood lymphocytes, suggests a possible role for this abnormality in the pathogenesis of male breast carcinoma.


  • Cancer and Oncology
  • Aged
  • Aneuploidy
  • BRCA2 Protein
  • Breast Neoplasms, Male
  • Carcinoma, Ductal, Breast
  • Chromosome Aberrations
  • Chromosome Deletion
  • Clone Cells
  • Flow Cytometry
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Lymphatic Metastasis
  • Lymphocytes
  • Male
  • Neoplasm Proteins
  • Receptors, Estrogen
  • Transcription Factors
  • Y Chromosome
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't


  • Pathology, Malmö
  • ISSN: 0165-4608
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2