Breast cancers with special genetic-phenotypic correlations Review


Authors: Schwartz, C. J.; D'Alfonso, T. M.
Review Title: Breast cancers with special genetic-phenotypic correlations
Abstract: Some invasive breast carcinomas are unique in that they show a specific recurrent genetic abnormality that is associated with distinct morphologic features. These tumors are triple-negative and are generally associated with a favorable prognosis compared with other triple-negative breast carcinomas. Adenoid cystic carcinoma is a biphasic epithelial-myoepithelial invasive carcinoma that like its salivary gland counterpart, is characterized by a recurrent t(6; 9) (q22-23; p23-24) translocation which results in the formation of a MYB-NFIB fusion gene. Secretory carcinoma shows a recurrent (12; 15); (p13; q25) translocation that results in an ETV6-NTRK3 gene fusion, which is also seen in mammary analogue secretory carcinoma of the salivary gland. Tall cell carcinoma with reversed polarity, previously called “breast tumor resembling the tall cell variant of papillary thyroid carcinoma,” and “solid papillary carcinoma with reverse polarity” shows IDH2 hotspot mutations, which are rare in other breast carcinomas. This review will provide an overview of the morphologic, immunohistochemical, molecular, and clinical features of these rare examples of breast cancers with special genetic–phenotypic correlations. © 2021
Keywords: breast carcinoma; adenoid cystic carcinoma; secretory carcinoma; histologic special types; tall cell carcinoma with reversed polarity
Journal Title: Diagnostic Histopathology
Volume: 27
Issue: 4
ISSN: 1756-2317
Publisher: Elsevier Inc.  
Date Published: 2021-04-01
Start Page: 155
End Page: 163
Language: English
DOI: 10.1016/j.mpdhp.2021.01.003
PROVIDER: scopus
DOI/URL:
Notes: Review -- Export Date: 3 May 2021 -- Source: Scopus
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