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Multiple fibroadenomas harbouring carcinoma in situ in a woman with a family history of breast/ovarian cancer

¹ Department of Pathology, Free University Medical Centre, 1007 MB Amsterdam, The Netherlands
² Department of Surgical Oncology, Free University Medical Centre
³ Department of Human Genetics, Free University Medical Centre
⁴ Department of Medical Oncology, Free University Medical Centre
⁵ Department of Human Genetics, Westfälische Wilhelms University, Münster, Germany

Correspondence to:
Professor P J van Diest, Department of Pathology, Free University Medical Centre, PO Box 7057, 1007 MB Amsterdam, The Netherlands;
pj.vandiest{at}vumc.nl
ABSTRACT
A 46 year old woman with a family history of breast and ovarian cancer presented with multiple fibroadenomas in both breasts. From three fibroadenomas removed from the left breast carcinoma in situ (CIS) had developed. One fibroadenoma gave rise to ductal CIS, whereas the other two harboured lobular CIS. This is the first report of three fibroadenomas simultaneously giving rise to CIS. In addition, synchronous fibroadenomas harbouring different types of CIS from one fibroadenoma to the other have never been described. Direct sequencing revealed a mutation (5075GA) in the BRCA1 gene, but retention of BRCA1 immunohistochemical staining and no loss of heterozygosity at the BRCA1 locus by polymerase chain reaction made a pathogenic mutation in BRCA1 unlikely. Furthermore, in this family no cosegregation of breast cancer with this BRCA1 mutation was seen. Indeed, this mutation is now regarded as a polymorphism. This case stresses the need for histological evaluation of all breast masses in women with a strong positive family history for breast and/or ovarian cancer.

Keywords: breast; fibroadenoma; carcinoma in situ; BRCA1

Abbreviations: CIS, carcinoma in situ; DIS, ductal carcinoma in situ; H&E, haematoxylin and eosin; LCIS, lobular carcinoma in situ; LOH, loss of heterozygosity; PCR, polymerase chain reaction