Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier

Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, Pesochny-2, St. Petersburg, Russia.
Breast Cancer (Impact Factor: 1.59). 05/2009; 18(2):137-40. DOI: 10.1007/s12282-009-0105-0
Source: PubMed


This case report describes a 35-year-old woman who was diagnosed with mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast. Genetic analysis of blood DNA revealed a common founder mutation, BRCA1 5382insC. Examination of microdissected tumor samples determined that both epithelial and mesenchymal components contained deletion of the wild-type BRCA1 allele. This report exemplifies that even very uncommon breast tumor types may develop through biallelic inactivation of BRCA1 gene, that has to be considered in the genetic testing settings.

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    • "Suspitsin et al. described a mixed epithelial/mesenchimal metaplastic carcinoma that was diagnosed in a 35-year-old female carrier of the c.5266dupC mutation. The molecular analysis revealed the loss of the wild-type BRCA1 allele in both the epithelial and the mesenchymal components of the tumor, supporting the role of BRCA1 in its development [49]. A low-grade adenosquamous carcinoma of the breast described by Noel et al. was diagnosed in a 49-year-old woman with a previous diagnosis of IDC and the presence of the c.66dupA mutation [50]. "
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    ABSTRACT: Breast cancers occurring in women with germline BRCA1 mutations tend to fall into the category of triple-negative or basal-like phenotypes, such as metaplastic carcinoma. Low-grade adenosquamous carcinoma of the breast is a rare variant of metaplastic carcinoma. We present the case of a 49-year-old woman with a past medical history of invasive ductal breast carcinoma 13 years ago, and who was recently diagnosed as having a low-grade adenosquamous carcinoma in the same breast. Genetic analysis of blood DNA revealed a BRCA1 mutation. To our knowledge, BRCA1 mutation in association with a low-grade adenosquamous carcinoma of the breast has not yet been reported. Thus, it may be important to consider the possibility of an association, but supplemental studies are needed.
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