Kuijper A, Preisler-Adams S S, Rahusen F D, Gille J J P, van der Wall E, van Diest P J
Department of Pathology, Free University Medical Centre, 1007 MB Amsterdam, The Netherlands.
J Clin Pathol. 2002 Oct;55(10):795-7. doi: 10.1136/jcp.55.10.795.
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 (5075G-->A) 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.
一名有乳腺癌和卵巢癌家族史的46岁女性双侧乳房出现多个纤维腺瘤。从左侧乳房切除的三个纤维腺瘤中已发展出原位癌(CIS)。一个纤维腺瘤发展为导管原位癌,而另外两个含有小叶原位癌。这是关于三个纤维腺瘤同时发展为原位癌的首例报告。此外,从未有过关于同步性纤维腺瘤从一个到另一个含有不同类型原位癌的描述。直接测序显示BRCA1基因存在一个突变(5075G→A),但BRCA1免疫组化染色保留,且聚合酶链反应显示BRCA1基因座无杂合性缺失,因此BRCA1致病突变的可能性不大。此外,在这个家族中未观察到乳腺癌与该BRCA1突变的共分离现象。实际上,现在认为该突变是一种多态性。该病例强调了对有乳腺癌和/或卵巢癌强阳性家族史的女性所有乳腺肿块进行组织学评估的必要性。