Marotti Jonathan D, Schnitt Stuart J
Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA; Department of Pathology and Laboratory Medicine, Geisel School of Medicine at Dartmouth, One Rope Ferry Road, Hanover, NH 03755-1404, USA.
Department of Pathology, Brigham and Women's Hospital, Dana-Farber Cancer Institute, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Surg Pathol Clin. 2018 Mar;11(1):199-211. doi: 10.1016/j.path.2017.09.008. Epub 2017 Dec 15.
Only a few breast cancer histologic subtypes harbor distinct genetic alterations that are associated with a specific morphology (genotype-phenotype correlation). Secretory carcinomas and adenoid cystic carcinomas are each characterized by recurrent translocations, and invasive lobular carcinomas frequently have CDH1 mutations. Solid papillary carcinoma with reverse polarity is a rare breast cancer subtype with a distinctive morphology and recently identified IDH2 mutations. We review the clinical and pathologic features and underlying genetic alterations of those breast cancer subtypes with established genotype-phenotype correlations and discuss the phenotypes associated with germline mutations in genes associated with hereditary breast cancer.
只有少数乳腺癌组织学亚型具有与特定形态相关的独特基因改变（基因型-表型相关性）。分泌性癌和腺样囊性癌各自的特征是反复出现的易位，而浸润性小叶癌经常发生CDH1突变。具有反向极性的实性乳头状癌是一种罕见的乳腺癌亚型，具有独特的形态，且最近发现了IDH2突变。我们回顾了那些具有既定基因型-表型相关性的乳腺癌亚型的临床和病理特征以及潜在的基因改变，并讨论了与遗传性乳腺癌相关基因中的种系突变相关的表型。
